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Atlas / Gene / RORC

RORC

gene
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Also known as RZRGRORGNR1F3TOR

Summary

RORC (RAR related orphan receptor C, HGNC:10260) is a protein-coding gene on chromosome 1q21.3, encoding Nuclear receptor ROR-gamma (P51449). Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5’-AGGTCA-3’ preceded by a short A-T-rich sequence.

The protein encoded by this gene is a DNA-binding transcription factor and is a member of the NR1 subfamily of nuclear hormone receptors. The specific functions of this protein are not known; however, studies of a similar gene in mice have shown that this gene may be essential for lymphoid organogenesis and may play an important regulatory role in thymopoiesis. In addition, studies in mice suggest that the protein encoded by this gene may inhibit the expression of Fas ligand and IL2. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 6097 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency (Strong, GenCC) — +1 more curated relationship
  • GWAS associations: 13
  • Clinical variants (ClinVar): 361 total — 9 pathogenic, 3 likely-pathogenic
  • Phenotypes (HPO): 10
  • Druggable target: yes — 9 molecules with ChEMBL bioactivity
  • Transcription factor: yes — 23 downstream targets (CollecTRI)
  • MANE Select transcript: NM_005060

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:10260
Approved symbolRORC
NameRAR related orphan receptor C
Location1q21.3
Locus typegene with protein product
StatusApproved
AliasesRZRG, RORG, NR1F3, TOR
Ensembl geneENSG00000143365
Ensembl biotypeprotein_coding
OMIM602943
Entrez6097

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 8 protein_coding, 4 retained_intron, 4 nonsense_mediated_decay

ENST00000318247, ENST00000356728, ENST00000480719, ENST00000638901, ENST00000651025, ENST00000651814, ENST00000651893, ENST00000652040, ENST00000697811, ENST00000697812, ENST00000697813, ENST00000859918, ENST00000859919, ENST00000859920, ENST00000859921, ENST00000859922

RefSeq mRNA: 2 — MANE Select: NM_005060 NM_001001523, NM_005060

CCDS: CCDS1004, CCDS30856

Canonical transcript exons

ENST00000318247 — 11 exons

ExonStartEnd
ENSE00000959584151816664151816805
ENSE00000959585151814913151815425
ENSE00000959586151814574151814695
ENSE00000959587151813488151813620
ENSE00000959588151813239151813346
ENSE00000959589151812947151813057
ENSE00001072282151811325151811434
ENSE00001423028151829429151829458
ENSE00001681892151817195151817280
ENSE00001873959151806071151807633
ENSE00003843865151831725151831802

Expression profiles

Bgee: expression breadth ubiquitous, 209 present calls, max score 96.46.

FANTOM5 (CAGE): breadth broad, TPM avg 2.1497 / max 188.7946, expressed in 361 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter IDTPM avgSamples expressed
144661.6002291
144620.375461
144630.076038
144670.057925
144650.025615
144610.01456

Top tissues by expression

289 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
gastrocnemiusUBERON:000138896.46gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047396.00gold quality
hindlimb stylopod muscleUBERON:000425295.92gold quality
right lobe of liverUBERON:000111495.19gold quality
muscle of legUBERON:000138394.77gold quality
right uterine tubeUBERON:000130294.25gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451193.94gold quality
parotid glandUBERON:000183193.04gold quality
muscle organUBERON:000163092.90gold quality
body of pancreasUBERON:000115092.81gold quality
liverUBERON:000210790.87gold quality
olfactory segment of nasal mucosaUBERON:000538689.78gold quality
vastus lateralisUBERON:000137989.08gold quality
skeletal muscle tissueUBERON:000113488.90gold quality
quadriceps femorisUBERON:000137788.72silver quality
skin of legUBERON:000151188.24gold quality
pancreasUBERON:000126487.97gold quality
saliva-secreting glandUBERON:000104487.95gold quality
gluteal muscleUBERON:000200087.50silver quality
skin of abdomenUBERON:000141687.19gold quality
thyroid glandUBERON:000204686.89gold quality
minor salivary glandUBERON:000183086.71gold quality
left lobe of thyroid glandUBERON:000112086.66gold quality
pituitary glandUBERON:000000786.59gold quality
adult mammalian kidneyUBERON:000008286.52gold quality
apex of heartUBERON:000209886.46gold quality
deltoidUBERON:000147686.37silver quality
diaphragmUBERON:000110386.25gold quality
tibialis anteriorUBERON:000138586.11silver quality
adenohypophysisUBERON:000219686.10gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-CURD-122yes11.63
E-ANND-3yes7.10
E-CURD-112no2.73

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

23 targets.

TargetRegulation
BCL2L1Activation
BMAL1Activation
CCR6Unknown
CYP2C19Activation
CYP2C8Activation
CYP2C9Activation
FASLGRepression
FOXP3Repression
IFNGActivation
IL17AUnknown
IL17FActivation
IL1R1Activation
IL2Repression
IL21Activation
IL22Unknown
IL23RRepression
IL6Activation
KLRB1Unknown
PTGER2Unknown
RORAActivation
TBXT
TNFActivation
TOB1

JASPAR motifs

MotifNameFamily
MA1151.1RORCThyroid hormone receptor-related factors (NR1)
MA1151.2RORCThyroid hormone receptor-related factors (NR1)

JASPAR matrix evidence (PMIDs): PMID:25500868

Upstream regulators (CollecTRI, top): AHR, GLI2, ID1, NCOR2, NR1D1, PPARG, PROX1, RUNX1, STAT3, USF1, USF2

miRNA regulators (miRDB)

84 targeting RORC, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-340-5P100.0072.504437
HSA-MIR-4455100.0065.481587
HSA-MIR-1252-5P100.0069.802774
HSA-MIR-450099.9972.722367
HSA-MIR-186-5P99.9970.833707
HSA-LET-7A-5P99.9872.291790
HSA-LET-7B-5P99.9872.311790
HSA-LET-7C-5P99.9872.291790
HSA-LET-7E-5P99.9872.291790
HSA-LET-7F-5P99.9872.561784
HSA-LET-7G-5P99.9872.371784
HSA-LET-7I-5P99.9872.371788
HSA-MIR-98-5P99.9872.331787
HSA-MIR-448799.9664.581252
HSA-LET-7D-5P99.9671.761632
HSA-MIR-445899.9671.641650
HSA-MIR-106A-5P99.9073.942683
HSA-MIR-17-5P99.8973.832665
HSA-MIR-153-5P99.8973.866317
HSA-MIR-4731-5P99.8967.232537
HSA-MIR-106B-5P99.8874.722795
HSA-MIR-20A-5P99.8874.762769
HSA-MIR-20B-5P99.8874.012621
HSA-MIR-519D-3P99.8873.972607
HSA-MIR-526B-3P99.8874.062587
HSA-MIR-93-5P99.8873.982606
HSA-MIR-4728-5P99.8569.394718
HSA-MIR-202-3P99.8471.411290
HSA-MIR-3663-3P99.8470.39798
HSA-MIR-6739-5P99.8067.872806

Literature-anchored findings (GeneRIF, showing 40)

  • We review here recent studies on the glucocorticoid receptor and the orphan receptors Nur77 and RORgamma (PMID:11983153)
  • data suggest that RORC cannot explain the linkage of type 2 diabetes in the 1q21-q23 region (PMID:12855222)
  • transcription factor driving the development of IL-17-producing T cells (PMID:17240331)
  • Review highlights the regulation of IL-17 production by orphan nuclear receptor ROR gamma t, which dictates the differentiation of pro-inflammatory T helper 17 (TH17) cells and is a therapeutic target for intervention of inflammatory autoimmunity. (PMID:17504012)
  • Foxp3 inhibits RORgammat-mediated IL-17A mRNA transcription through direct interaction with RORgammat (PMID:18434325)
  • Expression of the transcription factor RORgammat defined a previously unknown subset of NKp46+CD3- lymphocytes. (PMID:19029904)
  • the authors identify the upregulation of the TH17 lymphocyte subset transcription factor retinoid orphan receptor gamma T in contact sensitivity (PMID:19112760)
  • human memory Tregs secrete IL-17 ex vivo and constitutively express RORgamma t (PMID:19439651)
  • Findings demonstrate that expression of RORC2 in T cells has functional consequences beyond altering cytokine production and provides insight into the factors regulating the development of human Th17 cells. (PMID:19449310)
  • There is an increased synovial expression of the transcription factor of Th17, RORC2, in juvenile idiopathic arthritis and an inverse relationship with FOXP3 mRNA. (PMID:19648312)
  • Encephalitogenic T cells can be divided into those that are ROR gamma t negative and those that are positive. (PMID:19692128)
  • RORalpha and RORgamma are ligand-regulated members of the NR superfamily and may serve as sensors for 7-oxygenated sterols. (PMID:19965867)
  • higher expression in peripheral blood lymphocytes and decidua of recurrent spontaneous abortion patients (PMID:20106535)
  • Data showed that hydroxycholesterols promote the recruitment of coactivators by RORgamma, crystal structures reveal the binding modes of various hydroxycholesterols in the RORgamma pocket, with the receptors adopting the canonical active conformation. (PMID:20203100)
  • RORalpha and RORgamma display an overlapping ligand preference with another class of oxysterol nuclear receptors, the liver X receptors (LXRalpha [NR1H3] and LXRbeta [NR1H2]). (PMID:20211758)
  • this study identifies RORC2 as a polarizing factor in transcriptional cross-regulation (PMID:20427770)
  • Compared with healthy volunteers, patients with gastric cancer showed higher levels of RORgammat and FoxP3 in PBMC. (PMID:20450585)
  • Studies indicate that innate lymphocyte subset co-expressing RORgammat, NK cell receptors, and Il-22 has been identified. (PMID:21391996)
  • RORC2 and IL-17 are involved in the inflammatory response of allergic rhinitis and can be used as an indicator to judge the severity. (PMID:21426710)
  • RORgammat determined Th17 cell might be involved with increased IL-17A in Behcet’s Disease. (PMID:21455110)
  • Ursolic acid suppresses interleukin-17 (IL-17) production by selectively antagonizing the function of RORgamma t protein. (PMID:21566134)
  • Our data show a decreased Foxp3 expression and an increased ROR gamma t expression in COPD patients and normal smokers that parallels the aggravation of the disease. (PMID:21791252)
  • By allying with HIF1alpha, RORgammat wins the fight against FoxP3 and Treg cell commitment. (PMID:22058032)
  • RORgammat repressor isoform, RORgammat-Delta(5-8) may arbitrate IL-17 production in human T cells. (PMID:22237416)
  • High IL4I1 mRNA expression was detectable in Th17 cell precursors and was strictly dependent on Th17 cell master gene, the retinoid acid related orphan receptor (RORC). (PMID:22326581)
  • Single nucleotide polymorphisms in RORC gene is associated with lymphedema after breast cancer. (PMID:22404826)
  • Analysis of human RORgammaT promoter demonstrates the role of USF-1 and USF-2 transcription factors in regulating the expression of RORgammaT in human lymphocytes. (PMID:22891280)
  • Data indicate that the dominance of the SLAMF3/SLAMF6 pathway in inducing IL-17A production can be attributed to an increased nuclear abundance and recruitment of RORgammat to the IL17A promoter. (PMID:22989874)
  • study to evaluate gene expression of RORalpha and RORgammat and their potential role in acute-on-chronic hepatitis B liver failure (ACHBLF); mRNA level of RORgammat was positively correlated with model of end-stage liver disease (MELD) score; RORgammat plays an important role in the pathogenesis of ACHBLF (PMID:23043388)
  • SULT2A1 as a novel ROR-alpha and ROR-gamma target gene. (PMID:23211525)
  • Data suggest that expression of RORC and interleukin-17 is up-regulated in mononuclear cells cultured with interleukin-23 but only in cells from subjects with Graves disease; this response is independent of thyroid function (i.e., euthyroid or not). (PMID:23327801)
  • Collectively, these data suggest that FoxP3 interacts with RORgammat transcription factor in a viral load-dependent fashion and brings about negative impact on IL-17 production in HIV-1 infection. (PMID:23409930)
  • Defective TH17 development in human neonatal T cells involves reduced RORC2 mRNA content (PMID:23726039)
  • Expression of RORC in nasal epithelial cells was higher in nasal polyps compared to control mucosa. (PMID:23765061)
  • Increased plasmacytoid dendritic cells and RORgammat-expressing immune effectors in cutaneous acute graft-versus-host disease. (PMID:23990625)
  • Neutrophils, but not mast cells, coexpressed the IL-17-associated transcription factor RORgammat and were able to form extracellular traps. (PMID:24317395)
  • Data suggest that RORgammat is a tractable drug target for the treatment of cutaneous inflammatory disorders. (PMID:24516202)
  • 20(OH)D3 and 20,23(OH)2D3 act as antagonists or inverse agonists of RORalpha and RORgamma. (PMID:24668754)
  • In Th17 cells, RORC repressed EP2 by directly silencing PTGER2 transcription, and knock down of RORC restored EP2 expression in Th17 cells. (PMID:24812667)
  • This study demonstrates the role and significant correlation between a histone methyltransferase (PRMT2)-dependent signature, RORgamma, the cell-cycle regulation, DNA repair circuits, and breast cancer survival outcomes. (PMID:24911119)

Cross-species orthologs

188 orthologs

OrganismSymbolGene ID
danio_reriororcENSDARG00000087195
mus_musculusRorcENSMUSG00000028150
rattus_norvegicusRorcENSRNOG00000020836
drosophila_melanogasterEcRFBGN0000546
drosophila_melanogasterHr96FBGN0015240
caenorhabditis_elegansWBGENE00001062
caenorhabditis_elegansnhr-2WBGENE00003601
caenorhabditis_elegansWBGENE00003608
caenorhabditis_elegansWBGENE00003611
caenorhabditis_elegansWBGENE00003614
caenorhabditis_elegansWBGENE00003615
caenorhabditis_elegansWBGENE00003617
caenorhabditis_elegansWBGENE00003618
caenorhabditis_elegansWBGENE00003620
caenorhabditis_elegansnhr-23WBGENE00003622
caenorhabditis_elegansWBGENE00003624
caenorhabditis_elegansWBGENE00003632
caenorhabditis_elegansWBGENE00003634
caenorhabditis_elegansWBGENE00003638
caenorhabditis_elegansWBGENE00003640
caenorhabditis_elegansWBGENE00003641
caenorhabditis_elegansWBGENE00003642
caenorhabditis_elegansWBGENE00003643
caenorhabditis_elegansWBGENE00003644
caenorhabditis_elegansWBGENE00003645
caenorhabditis_elegansWBGENE00003646
caenorhabditis_elegansWBGENE00003648
caenorhabditis_elegansWBGENE00003649
caenorhabditis_elegansWBGENE00003651
caenorhabditis_elegansWBGENE00003653
caenorhabditis_elegansWBGENE00003655
caenorhabditis_elegansWBGENE00003658
caenorhabditis_elegansWBGENE00003660
caenorhabditis_elegansWBGENE00003662
caenorhabditis_elegansnhr-73WBGENE00003663
caenorhabditis_elegansnhr-77WBGENE00003667
caenorhabditis_elegansWBGENE00003669
caenorhabditis_elegansnhr-81WBGENE00003671
caenorhabditis_elegansnhr-82WBGENE00003672
caenorhabditis_elegansWBGENE00003676
caenorhabditis_elegansWBGENE00003677
caenorhabditis_elegansWBGENE00003680
caenorhabditis_elegansWBGENE00003682
caenorhabditis_elegansWBGENE00003684
caenorhabditis_elegansWBGENE00003685
caenorhabditis_elegansWBGENE00003686
caenorhabditis_elegansWBGENE00003688
caenorhabditis_elegansWBGENE00003689
caenorhabditis_elegansWBGENE00003692
caenorhabditis_elegansWBGENE00003693
caenorhabditis_elegansWBGENE00003694
caenorhabditis_elegansWBGENE00003696
caenorhabditis_elegansWBGENE00003698
caenorhabditis_elegansWBGENE00003699
caenorhabditis_elegansWBGENE00003700
caenorhabditis_elegansWBGENE00003702
caenorhabditis_elegansWBGENE00003704
caenorhabditis_elegansWBGENE00003705
caenorhabditis_elegansWBGENE00003707
caenorhabditis_elegansWBGENE00003708
caenorhabditis_elegansWBGENE00003712
caenorhabditis_elegansWBGENE00003713
caenorhabditis_elegansWBGENE00003714
caenorhabditis_elegansWBGENE00003715
caenorhabditis_elegansWBGENE00003716
caenorhabditis_elegansWBGENE00003717
caenorhabditis_elegansWBGENE00003718
caenorhabditis_elegansWBGENE00003720
caenorhabditis_elegansWBGENE00003721
caenorhabditis_elegansWBGENE00003722
caenorhabditis_elegansWBGENE00003723
caenorhabditis_elegansWBGENE00003724
caenorhabditis_elegansWBGENE00003725
caenorhabditis_elegansWBGENE00003728
caenorhabditis_elegansWBGENE00004786
caenorhabditis_elegansWBGENE00006471
caenorhabditis_elegansunc-55WBGENE00006790
caenorhabditis_elegansWBGENE00007367
caenorhabditis_elegansWBGENE00008056
caenorhabditis_elegansnhr-165WBGENE00008158
caenorhabditis_elegansWBGENE00008208
caenorhabditis_elegansnhr-169WBGENE00008289
caenorhabditis_elegansWBGENE00008309
caenorhabditis_elegansnhr-174WBGENE00008474
caenorhabditis_elegansWBGENE00008619
caenorhabditis_elegansWBGENE00008630
caenorhabditis_elegansWBGENE00008778
caenorhabditis_elegansWBGENE00008830
caenorhabditis_elegansWBGENE00008884
caenorhabditis_elegansWBGENE00008901
caenorhabditis_elegansnhr-265WBGENE00009608
caenorhabditis_elegansWBGENE00010017
caenorhabditis_elegansWBGENE00010180
caenorhabditis_elegansWBGENE00010186
caenorhabditis_elegansWBGENE00010215
caenorhabditis_elegansWBGENE00010410
caenorhabditis_elegansWBGENE00010600
caenorhabditis_elegansWBGENE00010601
caenorhabditis_elegansWBGENE00010602
caenorhabditis_elegansWBGENE00010603
caenorhabditis_elegansWBGENE00010604
caenorhabditis_elegansWBGENE00011002
caenorhabditis_elegansWBGENE00011150
caenorhabditis_elegansWBGENE00011396
caenorhabditis_elegansWBGENE00011520
caenorhabditis_elegansWBGENE00011565
caenorhabditis_elegansWBGENE00011566
caenorhabditis_elegansWBGENE00011568
caenorhabditis_elegansnhr-217WBGENE00011651
caenorhabditis_elegansWBGENE00011750
caenorhabditis_elegansWBGENE00012050
caenorhabditis_elegansWBGENE00012056
caenorhabditis_elegansWBGENE00012446
caenorhabditis_elegansWBGENE00012449
caenorhabditis_elegansWBGENE00012596
caenorhabditis_elegansWBGENE00012703
caenorhabditis_elegansWBGENE00013067
caenorhabditis_elegansWBGENE00013483
caenorhabditis_elegansnhr-276WBGENE00013512
caenorhabditis_elegansWBGENE00013584
caenorhabditis_elegansWBGENE00013940
caenorhabditis_elegansWBGENE00014068
caenorhabditis_elegansnhr-245WBGENE00014189
caenorhabditis_elegansWBGENE00014193
caenorhabditis_elegansWBGENE00015497
caenorhabditis_elegansWBGENE00015758
caenorhabditis_elegansWBGENE00015897
caenorhabditis_elegansWBGENE00015900
caenorhabditis_elegansWBGENE00015901
caenorhabditis_elegansWBGENE00015902
caenorhabditis_elegansWBGENE00016091
caenorhabditis_elegansWBGENE00016233
caenorhabditis_elegansWBGENE00016364
caenorhabditis_elegansWBGENE00016365
caenorhabditis_elegansWBGENE00016366
caenorhabditis_elegansWBGENE00016367
caenorhabditis_elegansWBGENE00016368
caenorhabditis_elegansWBGENE00016517
caenorhabditis_elegansWBGENE00016772
caenorhabditis_elegansWBGENE00016926
caenorhabditis_elegansWBGENE00016927
caenorhabditis_elegansWBGENE00017503
caenorhabditis_elegansWBGENE00017512
caenorhabditis_elegansWBGENE00017961
caenorhabditis_elegansWBGENE00018189
caenorhabditis_elegansWBGENE00018265
caenorhabditis_elegansWBGENE00018266
caenorhabditis_elegansWBGENE00018404
caenorhabditis_elegansWBGENE00018412
caenorhabditis_elegansWBGENE00018415
caenorhabditis_elegansWBGENE00018539
caenorhabditis_elegansWBGENE00018541
caenorhabditis_elegansWBGENE00018542
caenorhabditis_elegansWBGENE00018544
caenorhabditis_elegansWBGENE00018545
caenorhabditis_elegansWBGENE00018622
caenorhabditis_elegansWBGENE00019115
caenorhabditis_elegansWBGENE00019116
caenorhabditis_elegansWBGENE00019741
caenorhabditis_elegansWBGENE00019742
caenorhabditis_elegansWBGENE00019743
caenorhabditis_elegansWBGENE00020015
caenorhabditis_elegansWBGENE00020062
caenorhabditis_elegansWBGENE00020152
caenorhabditis_elegansWBGENE00020153
caenorhabditis_elegansWBGENE00020385
caenorhabditis_elegansWBGENE00020460
caenorhabditis_elegansWBGENE00020555
caenorhabditis_elegansWBGENE00020750
caenorhabditis_elegansWBGENE00020849
caenorhabditis_elegansWBGENE00020850
caenorhabditis_elegansWBGENE00020851
caenorhabditis_elegansWBGENE00020852
caenorhabditis_elegansWBGENE00021163
caenorhabditis_elegansWBGENE00021522
caenorhabditis_elegansWBGENE00021610
caenorhabditis_elegansWBGENE00021611
caenorhabditis_elegansWBGENE00021617
caenorhabditis_elegansWBGENE00022097
caenorhabditis_elegansWBGENE00022637
caenorhabditis_elegansWBGENE00022639
caenorhabditis_elegansWBGENE00022640
caenorhabditis_elegansWBGENE00022726
caenorhabditis_elegansWBGENE00022756
caenorhabditis_elegansWBGENE00022805
caenorhabditis_elegansWBGENE00044353
caenorhabditis_elegansWBGENE00044699
caenorhabditis_elegansWBGENE00045515

Paralogs (18): NR1H4 (ENSG00000012504), NR1H3 (ENSG00000025434), RORA (ENSG00000069667), RARB (ENSG00000077092), VDR (ENSG00000111424), PPARD (ENSG00000112033), THRA (ENSG00000126351), NR1D1 (ENSG00000126368), NR1H2 (ENSG00000131408), RARA (ENSG00000131759), PPARG (ENSG00000132170), NR1I3 (ENSG00000143257), NR1I2 (ENSG00000144852), THRB (ENSG00000151090), RARG (ENSG00000172819), NR1D2 (ENSG00000174738), PPARA (ENSG00000186951), RORB (ENSG00000198963)

Protein

Protein identifiers

Nuclear receptor ROR-gamma — P51449 (reviewed: P51449)

Alternative names: Nuclear receptor RZR-gamma, Nuclear receptor subfamily 1 group F member 3, RAR-related orphan receptor C, Retinoid-related orphan receptor-gamma

All UniProt accessions (9): P51449, A0A1W2PRM4, A0A494C0H2, A0A494C0S6, A0A494C174, A0A8V8TL94, B6ZGS6, F1D8P6, Q6I9R9

UniProt curated annotations — full annotation on UniProt →

Function. Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5’-AGGTCA-3’ preceded by a short A-T-rich sequence. Key regulator of cellular differentiation, immunity, peripheral circadian rhythm as well as lipid, steroid, xenobiotics and glucose metabolism. Considered to have intrinsic transcriptional activity, have some natural ligands like oxysterols that act as agonists (25-hydroxycholesterol) or inverse agonists (7-oxygenated sterols), enhancing or repressing the transcriptional activity, respectively. Recruits distinct combinations of cofactors to target gene regulatory regions to modulate their transcriptional expression, depending on the tissue, time and promoter contexts. Regulates the circadian expression of clock genes such as CRY1, BMAL1 and NR1D1 in peripheral tissues and in a tissue-selective manner. Competes with NR1D1 for binding to their shared DNA response element on some clock genes such as BMAL1, CRY1 and NR1D1 itself, resulting in NR1D1-mediated repression or RORC-mediated activation of the expression, leading to the circadian pattern of clock genes expression. Therefore influences the period length and stability of the clock. Involved in the regulation of the rhythmic expression of genes involved in glucose and lipid metabolism, including PLIN2 and AVPR1A. Negative regulator of adipocyte differentiation through the regulation of early phase genes expression, such as MMP3. Controls adipogenesis as well as adipocyte size and modulates insulin sensitivity in obesity. In liver, has specific and redundant functions with RORA as positive or negative modulator of expression of genes encoding phase I and Phase II proteins involved in the metabolism of lipids, steroids and xenobiotics, such as SULT1E1. Also plays a role in the regulation of hepatocyte glucose metabolism through the regulation of G6PC1 and PCK1. Regulates the rhythmic expression of PROX1 and promotes its nuclear localization. Plays an indispensable role in the induction of IFN-gamma dependent anti-mycobacterial systemic immunity. Nuclear receptor essential for thymopoiesis and the development of several secondary lymphoid tissues, including lymph nodes and Peyer’s patches. Required for the generation of LTi (lymphoid tissue inducer) cells. Regulates thymocyte survival through DNA-binding on ROREs of target gene promoter regions and recruitment of coactivaros via the AF-2. Also plays a key role, downstream of IL6 and TGFB and synergistically with RORA, for lineage specification of uncommitted CD4(+) T-helper (T(H)) cells into T(H)17 cells, antagonizing the T(H)1 program. Probably regulates IL17 and IL17F expression on T(H) by binding to the essential enhancer conserved non-coding sequence 2 (CNS2) in the IL17-IL17F locus. Plays a key role in tolerance to gut microbiota and foreign antigens in food by mediating differentiation of peripherally-induced regulatory T-cells (pTreg), which suppress inflammatory responses to commensal microorganisms and food proteins. Specifically expressed in antigen-presenting cell populations, such as (1) type 3 innate lymphoid cells (ILC3s), which are required for tolerance to gut microbiota, (2) Thetis cells, also named Janus cells, which are enriched in gut lymph nodes during early life and are required for oral tolerance, and (3) a subset of dendritic cells. Following activation by an unknown ligand in antigen-presenting cells, promotes recruitment of transcription regulators, such as PRDM16 or ZBTB46, and drives differentiation of pTreg cells, which maintain immune tolerance and prevent autoimmune diseases. May also play a role in the pre-TCR activation cascade leading to the maturation of alpha/beta T-cells and may participate in the regulation of DNA accessibility in the TCR-J(alpha) locus.

Subunit / interactions. Interacts (via AF-2 motif) with the coactivator NCOA2 (via LXXLL motif). Interacts with the corepressor NCOR1. Interacts with CRY1. Interacts (via AF-2 motif) with the coactivators NCOA1 and PPARGC1A (via LXXLL motif). Interacts (via AF-2 motif) with PROX1. Interacts with FOXP3. Interacts with NR0B2.

Subcellular location. Nucleus.

Tissue specificity. Isoform 1 is widely expressed in many tissues, including liver and adipose, and highly expressed in skeletal muscle. Isoform 2 is primarily expressed in immature thymocytes.

Disease relevance. Immunodeficiency 42 (IMD42) [MIM:616622] An autosomal recessive primary immunodeficiency characterized by increased susceptibility to concomitant candidiasis and mycobacteriosis. Candidiasis is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida. Mycobacteriosis is characterized by infections caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. IMD42 patients vaccinated with BCG are particularly at risk for developing disseminated mycobacterial infections. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The AF-2 (activation function-2) motif is required for recruiting coregulators containing LXXLL motifs such as NCOA1 and NCOA2.

Induction. Up-regulated in the state of obesity.

Similarity. Belongs to the nuclear hormone receptor family. NR1 subfamily.

Isoforms (2)

UniProt IDNamesCanonical?
P51449-11yes
P51449-22, RORgT, RORgammaT

RefSeq proteins (2): NP_001001523, NP_005051* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000536Nucl_hrmn_rcpt_lig-bdDomain
IPR001628Znf_hrmn_rcptDomain
IPR001723Nuclear_hrmn_rcptFamily
IPR003079ROR_rcptFamily
IPR013088Znf_NHR/GATAHomologous_superfamily
IPR035500NHR-like_dom_sfHomologous_superfamily
IPR044101NR_DBD_RORDomain

Pfam: PF00104, PF00105

UniProt features (39 total): helix 16, strand 4, mutagenesis site 3, region of interest 3, compositionally biased region 2, splice variant 2, turn 2, zinc finger region 2, chain 1, domain 1, sequence variant 1, DNA-binding region 1, short sequence motif 1

Structure

Experimental structures (PDB)

161 structures, top 30 by resolution.

PDBMethodResolution (Å)
7NPCX-RAY DIFFRACTION1.47
6T4XX-RAY DIFFRACTION1.48
5APHX-RAY DIFFRACTION1.54
6R7KX-RAY DIFFRACTION1.54
7NP5X-RAY DIFFRACTION1.55
6W9IX-RAY DIFFRACTION1.61
6SALX-RAY DIFFRACTION1.61
7OFKX-RAY DIFFRACTION1.61
6T4TX-RAY DIFFRACTION1.62
7KXDX-RAY DIFFRACTION1.62
9N9LX-RAY DIFFRACTION1.64
5NTWX-RAY DIFFRACTION1.64
6G07X-RAY DIFFRACTION1.66
5NTPX-RAY DIFFRACTION1.7
4WLBX-RAY DIFFRACTION1.7
6T4WX-RAY DIFFRACTION1.71
5G42X-RAY DIFFRACTION1.72
3L0LX-RAY DIFFRACTION1.74
5G46X-RAY DIFFRACTION1.76
6TLQX-RAY DIFFRACTION1.76
5C4TX-RAY DIFFRACTION1.77
5M96X-RAY DIFFRACTION1.77
7W3PX-RAY DIFFRACTION1.77
6T4JX-RAY DIFFRACTION1.79
6FZUX-RAY DIFFRACTION1.8
5NIBX-RAY DIFFRACTION1.82
5G44X-RAY DIFFRACTION1.84
6ESNX-RAY DIFFRACTION1.84
6R7JX-RAY DIFFRACTION1.84
6T4IX-RAY DIFFRACTION1.84

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P51449-F175.420.57

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Mutagenesis-validated functional residues (3):

PositionPhenotype
327completely abolishes transcriptional activity.
378completely abolishes transcriptional activity.
397nearly abolishes transcriptional activity.

Function

Pathways and Gene Ontology

Reactome pathways

12 pathways

IDPathway
R-HSA-383280Nuclear Receptor transcription pathway
R-HSA-6785807Interleukin-4 and Interleukin-13 signaling
R-HSA-9931509Expression of BMAL (ARNTL), CLOCK, and NPAS2
R-HSA-9931510Phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) activates expression of core clock genes
R-HSA-9933387RORA,B,C and NR1D1 (REV-ERBA) regulate gene expression
R-HSA-8949275RUNX3 Regulates Immune Response and Cell Migration
R-HSA-1280215Cytokine Signaling in Immune system
R-HSA-168256Immune System
R-HSA-212436Generic Transcription Pathway
R-HSA-449147Signaling by Interleukins
R-HSA-73857RNA Polymerase II Transcription
R-HSA-74160Gene expression (Transcription)

MSigDB gene sets: 315 (showing top): GOBP_CIRCADIAN_RHYTHM, GOBP_REGULATION_OF_FAT_CELL_DIFFERENTIATION, GOBP_TOLERANCE_INDUCTION, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_REGULATION_OF_LEUKOCYTE_APOPTOTIC_PROCESS, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_T_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, GCANCTGNY_MYOD_Q6, ATACCTC_MIR202, GOBP_ALPHA_BETA_T_CELL_DIFFERENTIATION, GOBP_LYMPH_NODE_DEVELOPMENT, GOBP_REGULATION_OF_LYMPHOCYTE_APOPTOTIC_PROCESS, GOBP_CIRCADIAN_REGULATION_OF_GENE_EXPRESSION, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, USF_C

GO Biological Process (23): negative regulation of transcription by RNA polymerase II (GO:0000122), tolerance induction in gut-associated lymphoid tissue (GO:0002394), regulation of transcription by RNA polymerase II (GO:0006357), xenobiotic metabolic process (GO:0006805), regulation of glucose metabolic process (GO:0010906), regulation of steroid metabolic process (GO:0019218), circadian regulation of gene expression (GO:0032922), cellular response to sterol (GO:0036315), T-helper cell differentiation (GO:0042093), positive regulation of circadian rhythm (GO:0042753), regulatory T cell differentiation (GO:0045066), regulation of fat cell differentiation (GO:0045598), positive regulation of DNA-templated transcription (GO:0045893), lymph node development (GO:0048535), Peyer’s patch development (GO:0048541), adipose tissue development (GO:0060612), negative regulation of thymocyte apoptotic process (GO:0070244), T-helper 17 cell differentiation (GO:0072539), regulation of DNA-templated transcription (GO:0006355), circadian rhythm (GO:0007623), regulation of gene expression (GO:0010468), intracellular receptor signaling pathway (GO:0030522), rhythmic process (GO:0048511)

GO Molecular Function (13): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA-binding transcription factor activity (GO:0003700), nuclear receptor activity (GO:0004879), oxysterol binding (GO:0008142), zinc ion binding (GO:0008270), ligand-modulated transcription factor activity (GO:0098531), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565), metal ion binding (GO:0046872)

GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), nuclear body (GO:0016604)

Reactome top-level categories

Rollup of top-8 pathways:

CategoryPathways
Circadian clock3
Generic Transcription Pathway1
Signaling by Interleukins1
Transcriptional regulation by RUNX31
Immune System1
RNA Polymerase II Transcription1
Cytokine Signaling in Immune system1
Gene expression (Transcription)1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
regulation of DNA-templated transcription3
RNA polymerase II transcription regulatory region sequence-specific DNA binding3
regulation of transcription by RNA polymerase II2
transcription by RNA polymerase II2
circadian rhythm2
regulation of gene expression2
DNA-templated transcription2
DNA-binding transcription factor activity2
DNA-binding transcription factor activity, RNA polymerase II-specific2
cellular anatomical structure2
negative regulation of DNA-templated transcription1
immune response in gut-associated lymphoid tissue1
tolerance induction in mucosal-associated lymphoid tissue1
metabolic process1
cellular response to xenobiotic stimulus1
glucose metabolic process1
regulation of carbohydrate metabolic process1
regulation of small molecule metabolic process1
steroid metabolic process1
regulation of lipid metabolic process1
response to sterol1
cellular response to lipid1
cellular response to oxygen-containing compound1
CD4-positive, alpha-beta T cell differentiation1
regulation of circadian rhythm1
positive regulation of biological process1
T cell differentiation1
fat cell differentiation1
regulation of cell differentiation1
positive regulation of RNA biosynthetic process1
hematopoietic or lymphoid organ development1
mucosa-associated lymphoid tissue development1
animal organ development1
connective tissue development1
negative regulation of T cell apoptotic process1
thymocyte apoptotic process1
regulation of thymocyte apoptotic process1
alpha-beta T cell activation involved in immune response1
T cell differentiation involved in immune response1
T-helper cell differentiation1

Protein interactions and networks

STRING

1500 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
RORCIL17AQ16552925
RORCTBX21Q9UL17906
RORCNFIL3Q16649887
RORCIL17FQ96PD4868
RORCCRY1Q16526863
RORCIL23RQ5VWK5859
RORCPER3P56645857
RORCNPAS2Q99743851
RORCIL22Q9GZX6841
RORCFOXP3Q9BZS1839
RORCBMAL1O00327821
RORCPER2O15055815
RORCBATFQ16520815
RORCBHLHE41Q9C0J9812
RORCCD4P01730802

IntAct

47 interactions, top by confidence:

ABTypeScore
RORCPSMC5psi-mi:“MI:0915”(physical association)0.560
RORCClockpsi-mi:“MI:0915”(physical association)0.510
Bmal1RORCpsi-mi:“MI:0915”(physical association)0.510
RORCNCOA1psi-mi:“MI:0407”(direct interaction)0.440
PPARGC1ARORCpsi-mi:“MI:0407”(direct interaction)0.440
RORCCREBBPpsi-mi:“MI:0407”(direct interaction)0.440
RORCFOXP3psi-mi:“MI:0915”(physical association)0.400
RORCpsi-mi:“MI:0915”(physical association)0.400
IL17ARORCpsi-mi:“MI:0915”(physical association)0.370
IL17FRORCpsi-mi:“MI:0915”(physical association)0.370
IL25RORCpsi-mi:“MI:0915”(physical association)0.370
IL26RORCpsi-mi:“MI:0915”(physical association)0.370
RORCpsi-mi:“MI:0915”(physical association)0.370
EVI2ARORCpsi-mi:“MI:0915”(physical association)0.370
JUNTPM3psi-mi:“MI:0914”(association)0.350
RORCGLB1psi-mi:“MI:0914”(association)0.350
RORCpsi-mi:“MI:0914”(association)0.350
PSMC5RORCpsi-mi:“MI:0915”(physical association)0.000
RORCCipcpsi-mi:“MI:0915”(physical association)0.000
Csnk1eRORCpsi-mi:“MI:0915”(physical association)0.000
RORCBHLHE40psi-mi:“MI:0915”(physical association)0.000
RORCBhlhe41psi-mi:“MI:0915”(physical association)0.000

BioGRID (47): RORC (Two-hybrid), RORC (Two-hybrid), RORC (Two-hybrid), RORC (Two-hybrid), RORC (Two-hybrid), RORC (Two-hybrid), RORC (Two-hybrid), RORC (Two-hybrid), RORC (Two-hybrid), RORC (Two-hybrid), RORC (Two-hybrid), RORC (Two-hybrid), RORC (Two-hybrid), RORC (Two-hybrid), RORC (Two-hybrid)

ESM2 similar proteins: A0A0R4IXF6, A0A1D5PRR9, A0JPN4, A4Q9E8, A4Q9F6, A6H8H5, A6ND36, A6NNM8, A8CVX7, O54828, O54928, P0CH95, P49805, P51449, P51450, Q08D35, Q14679, Q1LUC3, Q3UWM4, Q4V7W5, Q4ZHA6, Q5D1E7, Q5JV73, Q5NC05, Q5QNQ6, Q5RAP4, Q5RHD1, Q5SWY7, Q63099, Q6IRU7, Q6P1H6, Q6P9P8, Q6ZMT4, Q70CQ4, Q7TP65, Q7TSG2, Q80UG8, Q86XL3, Q8BGE5, Q8BN59

Diamond homologs: A0JNE3, A2T928, A4IIG7, G5ECR9, G5EDJ0, O02151, O45666, O76202, O97716, P10276, P10588, P10826, P10827, P10828, P11416, P12813, P13056, P13631, P16376, P18117, P18514, P18515, P18516, P18911, P20153, P22448, P22449, P22605, P22736, P22829, P28699, P31396, P33242, P33244, P41828, P41830, P43354, P45447, P49116, P49117

SIGNOR signaling

6 interactions.

AEffectBMechanism
STAT3up-regulatesRORC
SMAD2/STAT3/EP300up-regulatesRORC
RORCup-regulatesTh17
RORCup-regulatesIL17A“transcriptional regulation”
RORC“up-regulates quantity by expression”ARNTL“transcriptional regulation”
PROX1down-regulatesRORC

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 33 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
Signaling by GSK3beta mutants5146.4×5e-09
CTNNB1 S33 mutants aren’t phosphorylated5146.4×5e-09
CTNNB1 S37 mutants aren’t phosphorylated5146.4×5e-09
CTNNB1 S45 mutants aren’t phosphorylated5146.4×5e-09
CTNNB1 T41 mutants aren’t phosphorylated5146.4×5e-09
Beta-catenin phosphorylation cascade5129.2×8e-09
Platelet sensitization by LDL5129.2×8e-09
Co-inhibition by CTLA4599.8×3e-08

GO biological processes:

GO termPartnersFoldFDR
regulation of circadian rhythm769.8×2e-09
circadian regulation of gene expression763.0×2e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

361 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic9
Likely pathogenic3
Uncertain significance130
Likely benign156
Benign27

Top pathogenic / likely-pathogenic (12)

Variant IDHGVSClassification
217445NM_005060.4(RORC):c.113C>T (p.Ser38Leu)Pathogenic
217446NM_005060.4(RORC):c.985C>T (p.Gln329Ter)Pathogenic
217447NM_005060.4(RORC):c.1321C>T (p.Gln441Ter)Pathogenic
2697193NM_005060.4(RORC):c.292C>T (p.Arg98Ter)Pathogenic
2860649NM_005060.4(RORC):c.682C>T (p.Arg228Ter)Pathogenic
3722087NM_005060.4(RORC):c.908del (p.Glu303fs)Pathogenic
4720711NM_005060.4(RORC):c.990C>A (p.Tyr330Ter)Pathogenic
4725563NM_005060.4(RORC):c.205_208del (p.Arg69fs)Pathogenic
4734088NM_005060.4(RORC):c.811G>T (p.Glu271Ter)Pathogenic
1068314NM_005060.4(RORC):c.934-1G>ALikely pathogenic
2585221NM_005060.4(RORC):c.1165C>T (p.Arg389Ter)Likely pathogenic
4813333NM_005060.4(RORC):c.991G>A (p.Val331Met)Likely pathogenic

SpliceAI

1874 predictions. Top by Δscore:

VariantEffectΔscore
1:151811323:ACCTT:Adonor_loss1.0000
1:151811434:TCTGG:Tacceptor_loss1.0000
1:151811454:C:CTacceptor_gain1.0000
1:151811454:C:Tacceptor_gain1.0000
1:151811455:G:Cacceptor_gain1.0000
1:151811458:A:ACacceptor_gain1.0000
1:151811458:A:Cacceptor_gain1.0000
1:151812945:A:ACdonor_gain1.0000
1:151812946:C:CCdonor_gain1.0000
1:151812946:CGGG:Cdonor_gain1.0000
1:151813353:A:Tacceptor_gain1.0000
1:151813354:G:Cacceptor_gain1.0000
1:151813617:TGGA:Tacceptor_gain1.0000
1:151813621:C:CCacceptor_gain1.0000
1:151814569:CTCA:Cdonor_loss1.0000
1:151814570:TCACC:Tdonor_loss1.0000
1:151814572:ACCTT:Adonor_gain1.0000
1:151814573:CCTTC:Cdonor_gain1.0000
1:151814576:T:TAdonor_gain1.0000
1:151814596:T:TAdonor_gain1.0000
1:151814694:CT:Cacceptor_gain1.0000
1:151814696:C:CCacceptor_gain1.0000
1:151814703:C:CTacceptor_gain1.0000
1:151814703:C:Tacceptor_gain1.0000
1:151814704:G:Tacceptor_gain1.0000
1:151815332:T:TAdonor_gain1.0000
1:151816663:CCAT:Cdonor_gain1.0000
1:151817193:A:ACdonor_gain1.0000
1:151817193:AC:Adonor_gain1.0000
1:151817194:C:CCdonor_gain1.0000

AlphaMissense

3376 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
1:151816675:A:GM96T1.000
1:151816715:A:GC83R1.000
1:151816800:G:CF54L1.000
1:151816800:G:TF54L1.000
1:151816802:A:GF54L1.000
1:151817207:A:CC48W1.000
1:151817208:C:TC48Y1.000
1:151817209:A:GC48R1.000
1:151817250:C:TC34Y1.000
1:151817258:G:CC31W1.000
1:151817259:C:TC31Y1.000
1:151817260:A:GC31R1.000
1:151813496:A:GL353P0.999
1:151816689:G:CC91W0.999
1:151816691:A:GC91R0.999
1:151816703:G:TR87S0.999
1:151816704:G:CC86W0.999
1:151816705:C:GC86S0.999
1:151816706:A:GC86R0.999
1:151816706:A:TC86S0.999
1:151816713:G:CC83W0.999
1:151816714:C:GC83S0.999
1:151816715:A:TC83S0.999
1:151816763:A:GC67R0.999
1:151816797:G:CF55L0.999
1:151816797:G:TF55L0.999
1:151816798:A:CF55C0.999
1:151816798:A:GF55S0.999
1:151816799:A:GF55L0.999
1:151816801:A:CF54C0.999

dbSNP variants (sampled 300 via entrez): RS1000005664 (1:151811507 C>T), RS1000214224 (1:151831846 G>A), RS1000419663 (1:151831713 T>C), RS1000609224 (1:151824892 CA>C), RS1000758080 (1:151825011 T>C), RS1000967449 (1:151812425 T>A), RS1001024694 (1:151812086 A>T), RS1001129662 (1:151819169 G>A), RS1001186860 (1:151812031 G>C,T), RS1001293704 (1:151822310 G>A,C), RS1001402492 (1:151813540 G>A,C,T), RS1001578251 (1:151832225 G>A,C), RS1001595806 (1:151816210 C>T), RS1001679167 (1:151811609 C>T), RS1001813850 (1:151816537 G>A,C)

Disease associations

OMIM: gene MIM:602943 | disease phenotypes: MIM:616622

GenCC curated gene-disease

DiseaseClassificationInheritance
autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiencyStrongAutosomal recessive
lymphatic malformationModerateAutosomal dominant

Mondo (2): autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency (MONDO:0014710), lymphatic malformation (MONDO:0019313)

Orphanet (1): Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency (Orphanet:477857)

HPO phenotypes

10 total (10 of 10 shown, HPO-id order):

HPOTerm
HP:0000007Autosomal recessive inheritance
HP:0000778Hypoplasia of the thymus
HP:0001744Splenomegaly
HP:0002240Hepatomegaly
HP:0003593Infantile onset
HP:0009098Chronic oral candidiasis
HP:0011107Recurrent aphthous stomatitis
HP:0011370Recurrent cutaneous fungal infections
HP:0011463Childhood onset
HP:0020087BCGosis

GWAS associations

13 associations (top):

StudyTraitp-value
GCST001725_34Inflammatory bowel disease4.000000e-16
GCST002755_3Depressive symptoms (SSRI exposure interaction)3.000000e-07
GCST004131_15Inflammatory bowel disease7.000000e-14
GCST004132_82Crohn’s disease6.000000e-07
GCST004133_51Ulcerative colitis2.000000e-11
GCST005038_9Allergic disease (asthma, hay fever or eczema)2.000000e-12
GCST005537_163Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy)2.000000e-16
GCST007798_5Asthma3.000000e-14
GCST007800_12Asthma (childhood onset)2.000000e-16
GCST008916_130Asthma1.000000e-12
GCST008916_82Asthma5.000000e-27
GCST008916_88Asthma1.000000e-25
GCST90013407_34Liver enzyme levels (gamma-glutamyl transferase)5.000000e-37

EFO canonical traits (4, from GWAS)

EFO IDTrait name
EFO:0007006depressive symptom measurement
EFO:0007010drug use measurement
EFO:0007011SSRI use measurement
EFO:0004532serum gamma-glutamyl transferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL1741186 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

9 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,090,613 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

MoleculeNamePhasePatents
CHEMBL1751DIGOXIN467,342
CHEMBL38TRETINOIN4194,008
CHEMBL705ALITRETINOIN439,246
CHEMBL112570CHOLESTEROL2747,957
CHEMBL169URSOLIC ACID220,825
CHEMBL269277BETULINIC ACID120,430
CHEMBL4225088GSK2981278147
CHEMBL4472508CINTIRORGON1749
CHEMBL4634542BMS-98625119

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

4 variants.

VariantGenesLevelScore#Clin annotsDrugs
rs12145375RORC0.000
rs2280471RORC0.000
rs12144914RORC0.000
rs55841824RORC0.000

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: nhr — 1F. Retinoic acid-related orphans

Most potent curated ligand interactions (15 total), top 15:

LigandActionAffinityParameter
compound 32 [PMID: 31638797]Inverse agonist10.44pIC50
compound 25 [Zhang et al., 2020]Negative9.0pIC50
TAK-828FInverse agonist8.72pIC50
GSK2981278Inverse agonist8.49pIC50
compound 14 [Schnute et al., 2023]Inverse agonist8.03pIC50
GNE-3500Inverse agonist7.92pEC50
MRL-871Inverse agonist7.8pEC50
RORC2 inverse agonist 66 [PMID: 30130103]Inverse agonist7.78pIC50
AZD0284Inverse agonist7.39pIC50
T0901317Inverse agonist7.29pKi
SR2211Inverse agonist6.98pKi
SR1001Inverse agonist6.95pKi
cintirorgonAgonist6.3pEC50
XY101Inverse agonist6.12pKd
SR1555Inverse agonist6.0pIC50

Binding affinities (BindingDB)

5640 measured of 6084 human assays (6100 total across all organisms); most potent 50 below. Values come from heterogeneous assays and are not directly comparable.

LigandMeasureValuePatent
[4-chloro-2-methoxy-3-[[4-(trifluoromethyl)phenyl]methyl]quinolin-6-yl]-bis(2,3-dimethylimidazol-4-yl)methanolKD0.017 nMUS-9290476: Methylene linked quinolinyl modulators of RORγt
(R)-[4-chloro-2-methoxy-3-[[4-(trifluoromethyl)piperidin-1-yl]methyl]quinolin-6-yl]-(2,6-dimethyl-4-pyridinyl)-(3-methyltriazol-4-yl)methanolKD0.02 nMUS-10201546: Quinolinyl modulators of RORγt
[4-chloro-2-methoxy-3-[[4-(trifluoromethyl)phenyl]methyl]quinolin-6-yl]-(2,3-dimethylimidazol-4-yl)-(3-methyltriazol-4-yl)methanolKD0.026 nMUS-9290476: Methylene linked quinolinyl modulators of RORγt
6-[(2,6-dimethyl-3-pyridinyl)-hydroxy-(3-methyltriazol-4-yl)methyl]-3-[[4-(trifluoromethyl)phenyl]methyl]quinoline-2,4-dicarbonitrileKD0.04 nMUS-9290476: Methylene linked quinolinyl modulators of RORγt
6-[(2,3-dimethylimidazol-4-yl)-hydroxy-(3-methyltriazol-4-yl)methyl]-2-methoxy-3-[[4-(trifluoromethyl)phenyl]methyl]quinoline-4-carbonitrileKD0.05 nMUS-9290476: Methylene linked quinolinyl modulators of RORγt
[4-chloro-2-methoxy-3-[[4-(trifluoromethyl)phenyl]methyl]quinolin-6-yl]-(2,6-dimethyl-3-pyridinyl)-(3-methyltriazol-4-yl)methanolKD0.14 nMUS-9290476: Methylene linked quinolinyl modulators of RORγt
[4-chloro-2-ethyl-3-[[4-(trifluoromethyl)phenyl]methyl]quinolin-6-yl]-(1-methylsulfonylazetidin-3-yl)-(3-methyltriazol-4-yl)methanolKD0.23 nMUS-9290476: Methylene linked quinolinyl modulators of RORγt
6-[(2,6-dimethyl-3-pyridinyl)-hydroxy-(3-methyltriazol-4-yl)methyl]-2-methoxy-3-[[4-(trifluoromethyl)phenyl]methyl]quinoline-4-carbonitrileKD0.28 nMUS-9290476: Methylene linked quinolinyl modulators of RORγt
[4-chloro-2-methoxy-8-methyl-3-[(4-pyrazol-1-ylphenyl)methyl]quinolin-6-yl]-bis(3-methylimidazol-4-yl)methanolKD0.29 nMUS-9290476: Methylene linked quinolinyl modulators of RORγt
1-[3-[[4-chloro-2-ethyl-3-[[4-(trifluoromethyl)phenyl]methyl]quinolin-6-yl]-hydroxy-(3-methyltriazol-4-yl)methyl]azetidin-1-yl]ethanoneKD0.32 nMUS-9290476: Methylene linked quinolinyl modulators of RORγt
4-{(6R or S)-1-({2- chloro-6-[1- (difluoromethyl)cyclo propyl]phenyl}car- bonyl)-6-[(3- methoxyazetidin-1- yl)carbonyl]-4,5,6,7- tetrahydro-1H- indazol-3-yl}-3- fluorobenzoic acidIC500.5 nMUS-10221142: Substituted pyrazole compounds as RORgammaT inhibitors and uses thereof
(R or S)-4-(1-(2- chloro-6-(1- (trifluoromethyl)cyclo- propyl)benzoyl)-6- (1-methyl-1,4,5,6- tetrahydropyrrolo[3,4- c]pyrazole-5- carbonyl)-4,5,6,7- tetrahydro-1H- indazol-3-yl)-3- fluorobenzoic acidIC500.5 nMUS-10221142: Substituted pyrazole compounds as RORgammaT inhibitors and uses thereof
(R or S)-4-(1-(2- chloro-6-(1- (trifluoromethyl)cyclo- propyl)benzoyl)-6- (2-methyl-4,5,6,7- tetrahydro-2H- pyrazolo[4,3- c]pyridine-5- carbonyl)-4,5,6,7- tetrahydro-1H- indazol-3-yl)-3- fluorobenzoic acidIC500.5 nMUS-10221142: Substituted pyrazole compounds as RORgammaT inhibitors and uses thereof
(R or S)-4-(1-(2- chloro-6-(1- (trifluoromethyl)cyclo- propyl)benzoyl)-6- (5,6,7,8-tetrahydro- [1,2,4]triazolo[1,5- a]pyrazine-7- carbonyl)-4,5,6,7- tetrahydro-1H- indazol-3-yl)-3- fluorobenzoic acidIC500.5 nMUS-10221142: Substituted pyrazole compounds as RORgammaT inhibitors and uses thereof
3-[5-[5-[4-(tert-butylsulfamoyl)-2,3-dichlorophenyl]-4-(cyclohexylmethyl)-1,3-thiazol-2-yl]-1,3,4-oxadiazol-2-yl]-2,2-dimethylpropanoic acidKD0.55 nMUS-10080744: Thiazoles as modulators of RORγt
4-[(6R or S)-1-({2- chloro-6-[1- (trifluoromethyl)cyclo- propyl]phenyl}car- bonyl)-6-(1-oxa-7- azaspiro[4.4]non-7- ylcarbonyl)-4,5,6,7- tetrahydro-1H- indazol-3-yl]-3- fluorobenzoic acidIC500.6 nMUS-10221142: Substituted pyrazole compounds as RORgammaT inhibitors and uses thereof
4-{(6R or S)-1-({2- chloro-6-[1- (trifluoromethyl)cyclo- propyl]phenyl}car- bonyl)-6-[(3-methoxy- 3-methylazetidin-1- yl)carbonyl]-4,5,6,7- tetrahydro-1H- indazol-3-yl}-3- fluorobenzoic acidIC500.6 nMUS-10221142: Substituted pyrazole compounds as RORgammaT inhibitors and uses thereof
4-{(6R or S)-1-({2- chloro-6-[1- (difluoromethyl)cyclo propyl]phenyl}car- bonyl)-6-[(3-methoxy- 3-methylazetidin-1- yl)carbonyl]-4,5,6,7- tetrahydro-1H- indazol-3-yl}-3- fluorobenzoic acidIC500.6 nMUS-10221142: Substituted pyrazole compounds as RORgammaT inhibitors and uses thereof
(R or S)-4-(1-(2- chloro-6-(1- (trifluoromethyl)cyclo- propyl)benzoyl)-6- (4,5,6,7-tetrahydro- 1H-pyrazolo[4,3- c]pyridine-5- carbonyl)-4,5,6,7- tetrahydro-1H- indazol-3-yl)-3- fluorobenzoic acidIC500.6 nMUS-10221142: Substituted pyrazole compounds as RORgammaT inhibitors and uses thereof
(R or S)-4-(1-(2- chloro-6-(1- (trifluoromethyl)cyclo- propyl)benzoyl)-6- (2-methyl-1,4,5,6- tetrahydropyrrolo[3,4- d]imidazole-5- carbonyl)-4,5,6,7- tetrahydro-1H- indazol-3-yl)-3- fluorobenzoic acidIC500.6 nMUS-10221142: Substituted pyrazole compounds as RORgammaT inhibitors and uses thereof
(R or S)-4-(1-(2- chloro-6-(1- (trifluoromethyl)cyclo- propyl)benzoyl)-6- (methyl(1-methyl- 1H-pyrazol-4- yl)carbamoyl)- 4,5,6,7-tetrahydro- 1H-indazol-3-yl)-3- fluorobenzoic acidIC500.6 nMUS-10221142: Substituted pyrazole compounds as RORgammaT inhibitors and uses thereof
4-[3-(2,6-dichlorobenzoyl)-7-fluoro-3a,7a-dihydroindol-1-yl]-3-fluorobenzoic acidIC500.615 nMUS-9855229: Treatment of respiratory disorders using ROR-gamma inhibitors
[4-chloro-2-methoxy-3-[[4-(trifluoromethyl)phenyl]methyl]quinolin-6-yl]-(2,4-dimethyl-1,3-oxazol-5-yl)-(3-methyltriazol-4-yl)methanolKD0.63 nMUS-9290476: Methylene linked quinolinyl modulators of RORγt
5-[4-(tert-butylsulfamoyl)-3,5-dichloro-2-methylphenyl]-4-(cyclohexylmethyl)-N-(1,1-dioxothian-4-yl)-1,3-thiazole-2-carboxamideIC500.631 nMUS-10301272: Carboxamide or sulfonamide substituted thiazoles and related derivatives as modulators for the orphan nuclear receptor ROR[γ]
1-[3-[[4-chloro-2-methoxy-3-[[4-(trifluoromethyl)phenyl]methyl]quinolin-6-yl]-hydroxy-(3-methyltriazol-4-yl)methyl]azetidin-1-yl]ethanoneKD0.64 nMUS-9290476: Methylene linked quinolinyl modulators of RORγt
4-[1-[2-chloro-6-[1-(trifluoromethyl)cyclopropyl]benzoyl]-6-(2-oxa-7-azaspiro[3.4]octane-7-carbonyl)-4,5,6,7-tetrahydroindazol-3-yl]-3-fluorobenzoic acidIC500.7 nMUS-10221142: Substituted pyrazole compounds as RORgammaT inhibitors and uses thereof
4-[(6R or S)-1-({2- chloro-6-[1- (trifluoromethyl)cyclo- propyl]phenyl}car- bonyl)-6-(5-oxa-2- azaspiro[3.4]oct-2- ylcarbonyl)-4,5,6,7- tetrahydro-1H- indazol-3-yl]-3- fluorobenzoic acidIC500.7 nMUS-10221142: Substituted pyrazole compounds as RORgammaT inhibitors and uses thereof
4-[(6R or S)-1-({2- chloro-6-[1- (trifluoromethyl)cyclo- propyl]phenyl}car- bonyl)-6-{[4- (dimethylamino)-3,3- difluoropyrrolidin-1- yl]carbonyl}-4,5,6,7- tetrahydro-1H- indazol-3-yl]-3- fluorobenzoic acidIC500.7 nMUS-10221142: Substituted pyrazole compounds as RORgammaT inhibitors and uses thereof
4-[(6R or S)-1-({2- chloro-6-[1- (trifluoromethyl)cyclo- propyl]phenyl}car- bonyl)-6-{[(3S,4S)-3- hydroxy-4- methoxypyrrolidin-1- yl]carbonyl}-4,5,6,7- tetrahydro-1H- indazol-3-yl]-3- fluorobenzoic acidIC500.7 nMUS-10221142: Substituted pyrazole compounds as RORgammaT inhibitors and uses thereof
(R or S)-4-(1-(2- chloro-6-(1- (trifluoromethyl)cyclo- propyl)benzoyl)-6- (2-oxa-6- azaspiro[3.3]heptane- 6-carbonyl)-4,5,6,7- tetrahydro-1H- indazol-3-yl)-3- fluorobenzoic acidIC500.7 nMUS-10221142: Substituted pyrazole compounds as RORgammaT inhibitors and uses thereof
(S)-(4-chloro-3-cyclopentyl-2-methoxyquinolin-6-yl)-(2,3-dimethylimidazol-4-yl)-(3-methyltriazol-4-yl)methanolKD0.75 nMUS-10201546: Quinolinyl modulators of RORγt
tert-butyl 3-[[4-chloro-2-ethyl-3-[[4-(trifluoromethyl)phenyl]methyl]quinolin-6-yl]-hydroxy-(3-methyltriazol-4-yl)methyl]azetidine-1-carboxylateKD0.77 nMUS-9290476: Methylene linked quinolinyl modulators of RORγt
4-{(6R or S)-1-({2- chloro-6-[1- (trifluoromethyl)cyclo- propyl]phenyl}car- bonyl)-6-[(3- methoxyazetidin-1- yl)carbonyl]-4,5,6,7- tetrahydro-1H- indazol-3-yl}-3- fluorobenzoic acidIC500.8 nMUS-10221142: Substituted pyrazole compounds as RORgammaT inhibitors and uses thereof
4-[(6R or S)-1-({2- chloro-6-[1- (difluoromethyl)cyclo propyl]phenyl}car- bonyl)-6-(2-oxa-6- azaspiro[3.4]oct-6- ylcarbonyl)-4,5,6,7- tetrahydro-1H- indazol-3-yl]-3- fluorobenzoic acidIC500.8 nMUS-10221142: Substituted pyrazole compounds as RORgammaT inhibitors and uses thereof
4-[(6R or S)-1-({2- chloro-6-[1- (difluoromethyl)cyclo propyl]phenyl)car- bonyl)-6-{[(3S,4R)-3- fluoro-4- hydroxypyrrolidin-1- yl]carbonyl}-4,5,6,7- tetrahydro-1H- indazol-3-yl]-3- fluorobenzoic acidIC500.8 nMUS-10221142: Substituted pyrazole compounds as RORgammaT inhibitors and uses thereof
(R or S)-4-(1-(2- chloro-6-(1- (trifluoromethyl)cyclo- propyl)benzoyl)-6- (methyl((1-methyl- 1H-pyrazol-4- yl)methyl)carbamoyl)- 4,5,6,7-tetrahydro- 1H-indazol-3-yl)-3- fluorobenzoic acidIC500.8 nMUS-10221142: Substituted pyrazole compounds as RORgammaT inhibitors and uses thereof
4-[(6R or S)-1-({2- chloro-6-[1- (trifluoromethyl)cyclo- propyl]phenyl}car- bonyl)-6-{[(3S,4S)-3- (dimethylamino)-4- hydroxypyrrolidin-1- yl]carbonyl}-4,5,6,7- tetrahydro-1H- indazol-3-yl]-3- fluorobenzoic acidIC500.8 nMUS-10221142: Substituted pyrazole compounds as RORgammaT inhibitors and uses thereof
4-{(6R or S)-1-({2- chloro-6-[1- (trifluoromethyl)cyclo- propyl]phenyl}car- bonyl)-6-[(3- hydroxyazetidin-1- yl)carbonyl]-4,5,6,7- tetrahydro-1H- indazol-3-yl}-3- fluorobenzoic acidIC500.8 nMUS-10221142: Substituted pyrazole compounds as RORgammaT inhibitors and uses thereof
[2,4-dichloro-3-[(4-chlorophenyl)methyl]quinolin-6-yl]-pyridin-3-yl-(1,3-thiazol-5-yl)methanolKD0.83 nMUS-9290476: Methylene linked quinolinyl modulators of RORγt
3-cyano-N-[1-methyl-3-[1-[(2S)-thiolane-2-carbonyl]piperidin-4-yl]-4-(trifluoromethyl)pyrrolo[2,3-b]pyridin-5-yl]benzamideIC500.9 nMUS-9670201: Methyl- and trifluoromethyl-substituted pyrrolopyridine modulators of RORC2 and methods of use thereof
4-[1-[2-chloro-6-[1-(trifluoromethyl)cyclopropyl]benzoyl]-6-[(3R)-3-(dimethylamino)pyrrolidine-1-carbonyl]-4,5,6,7-tetrahydroindazol-3-yl]-3-fluorobenzoic acidIC500.9 nMUS-10221142: Substituted pyrazole compounds as RORgammaT inhibitors and uses thereof
(R or S)-4-(1-(2- chloro-6-(1- (trifluoromethyl)cyclo- propyl)benzoyl)-6- (1-methyl-3- (trifluoromethyl)- 4,5,6,7-tetrahydro- 1H-pyrazolo[4,3- c]pyridine-5- carbonyl)-4,5,6,7- tetrahydro-1H- indazol-3-yl)-3- fluorobenzoic acidIC500.9 nMUS-10221142: Substituted pyrazole compounds as RORgammaT inhibitors and uses thereof
(R or S)-4-(6-(((1H- pyrazol-5- yl)methyl)(methyl)car- bamoyl)-1-(2- chloro-6-(1- (trifluoromethyl)cyclo- propyl)benzoyl)- 4,5,6,7-tetrahydro- 1H-indazol-3-yl)-3- fluorobenzoic acidIC500.9 nMUS-10221142: Substituted pyrazole compounds as RORgammaT inhibitors and uses thereof
(R or S)-4-(1-(2- chloro-6-(1- (trifluoromethyl)cyclo- propyl)benzoyl)-6- (methyl(2-(1-methyl- 1H-pyrazol-4- yl)ethyl)carbamoyl)- 4,5,6,7-tetrahydro- 1H-indazol-3-yl)-3- fluorobenzoic acidIC500.9 nMUS-10221142: Substituted pyrazole compounds as RORgammaT inhibitors and uses thereof
4-[(6R or S)-1-({2- chloro-6-[1- (trifluoromethyl)cyclo- propyl]phenyl}car- bonyl)-6-{[(3R)-3- cyanopyrrolidin-1- yl]carbonyl}-4,5,6,7- tetrahydro-1H- indazol-3-yl]-3- fluorobenzoic acidIC500.9 nMUS-10221142: Substituted pyrazole compounds as RORgammaT inhibitors and uses thereof
(R or S)-4-(1-(2- chloro-6-(1- (trifluoromethyl)cyclo- propyl)benzoyl)-6- (3-fluoro-[1,3’- biazetidine]-1’- carbonyl)-4,5,6,7- tetrahydro-1H- indazol-3-yl)-3- fluorobenzoic acidIC500.9 nMUS-10221142: Substituted pyrazole compounds as RORgammaT inhibitors and uses thereof
N-[3-[(3R,4R)-1-[(2R)-2-cyclopentylpropanoyl]-3-methylpiperidin-4-yl]-1-methylindol-5-yl]-2-fluorobenzenesulfonamideIC500.9 nMUS-10385036: Sulfonamide-substituted indole modulators of RORC2 and methods of use thereof
4-[6-(azetidine-1-carbonyl)-1-[[2-chloro-6-(trifluoromethyl)phenyl]methyl]-4-fluoroindazol-3-yl]-5-fluoro-2-hydroxybenzoic acidIC501 nMUS-9556168: N-alkylated indole and indazole compounds as RORgammaT inhibitors and uses thereof
4-(1-(2-chloro-6- (trifluoromethyl)benzoyl)-6- (3-methoxy-azetidine-1- carbonyl)-1H-indol-3-yl)-3- fluorobenzoic acidIC501 nMUS-10196354: 4-heteroaryl substituted benzoic acid compounds as RORgammaT inhibitors and uses thereof
(3S,6R)-2-[[2,5-difluoro-4-[(1R,5S)- 6-(1,2,4-triazol-4-yl)-3- azabicyclo[3.1.0]hexan-3- yl]phenyl]methyl]-3-ethyl-6- phenyl-thiazinane 1,1-dioxideIC501 nMUS-9751873: Aryl sultam derivatives as RORc modulators

ChEMBL bioactivities

6100 potent at pChembl≥5 of 6100 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
10.77Kd0.017nMCHEMBL3929357
10.72Kd0.019nMCHEMBL5821593
10.70Kd0.02nMCHEMBL4441287
10.70Kd0.02nMCHEMBL5766445
10.70Kd0.02nMCHEMBL5848238
10.70Kd0.02nMCHEMBL5948510
10.62Kd0.024nMCHEMBL3358455
10.62Kd0.024nMCHEMBL5782981
10.60Kd0.025nMCHEMBL4642631
10.59Kd0.026nMCHEMBL3910514
10.52Kd0.03nMCHEMBL4642631
10.52Kd0.03nMCHEMBL5999201
10.44Kd0.036nMCHEMBL5812593
10.42Kd0.038nMCHEMBL4637144
10.41Kd0.039nMCHEMBL5787501
10.40Kd0.04nMCHEMBL3969443
10.40Kd0.04nMCHEMBL4637144
10.40Kd0.04nMCHEMBL5948255
10.36Kd0.044nMCHEMBL6060307
10.35Kd0.045nMCHEMBL5870061
10.30Kd0.05nMCHEMBL3978521
10.30Kd0.05nMCHEMBL3314002
10.30Kd0.05nMCHEMBL4635066
10.30Kd0.05nMCHEMBL4647899
10.30Kd0.05nMCHEMBL5974922
10.30Kd0.05nMCHEMBL5772558
10.24Kd0.058nMCHEMBL6015906
10.24Kd0.058nMCHEMBL6171702
10.22Kd0.06nMCHEMBL4643698
10.22Kd0.06nMCHEMBL6046148
10.22Kd0.06nMCHEMBL6033780
10.22Kd0.06nMCHEMBL5943144
10.20Kd0.063nMCHEMBL5800104
10.15Kd0.07nMCHEMBL4646424
10.15Kd0.07nMCHEMBL4633899
10.15Kd0.07nMCHEMBL5745122
10.15Kd0.07nMCHEMBL5807349
10.15Kd0.07nMCHEMBL5869679
10.11Kd0.077nMCHEMBL4128575
10.11Kd0.078nMCHEMBL4635866
10.10Kd0.08nMCHEMBL5945490
10.10Kd0.08nMCHEMBL5901158
10.08Kd0.083nMCHEMBL5849731
10.00Kd0.1nMCHEMBL4442831
10.00Kd0.1nMCHEMBL3905654
10.00IC500.1nMCHEMBL4635823
10.00Kd0.1nMCHEMBL5854700
10.00Kd0.1nMCHEMBL5757627
9.96Kd0.11nMCHEMBL3910514
9.96Kd0.11nMCHEMBL4126366

PubChem BioAssay actives

3540 with measured affinity, of 6100 total; 50 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

CompoundAssayTypeValueUnit
[4-chloro-2-methoxy-3-[[4-(trifluoromethyl)piperidin-1-yl]methyl]quinolin-6-yl]-(2,6-dimethyl-4-pyridinyl)-(3-methyltriazol-4-yl)methanol1544476: Displacement of thermofluor from human recombinant N-terminal TEV cleavage site-fused-His-tagged RORgammat LBD expressed in Escherichia coli assessed as equilibrium binding constants by fluorescence-based thermal shift assaykd<0.0001uM
3-[5-[4-(cyclopentylmethyl)-5-[2-(difluoromethyl)-3-fluoro-4-[[(2S)-1,1,1-trifluorobutan-2-yl]sulfamoyl]phenyl]-1,3-thiazol-2-yl]-1,3,4-oxadiazol-2-yl]-2,2-dimethylpropanoic acid1662523: Binding affinity to RORgammat (unknown origin) assessed as dissociation constant by thermal shift binding assaykd<0.0001uM
3-[5-[4-(cyclohexylmethyl)-5-[2-(difluoromethyl)-3-fluoro-4-[[(2S)-1,1,1-trifluorobutan-2-yl]sulfamoyl]phenyl]-1,3-thiazol-2-yl]-1,3,4-oxadiazol-2-yl]-2,2-dimethylpropanoic acid1662523: Binding affinity to RORgammat (unknown origin) assessed as dissociation constant by thermal shift binding assaykd<0.0001uM
3-[5-[5-[2-(difluoromethyl)-3-fluoro-4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]phenyl]-4-[(2S)-2-methylpiperidine-1-carbonyl]-1,3-thiazol-2-yl]-1,3,4-oxadiazol-2-yl]-2,2-dimethylpropanoic acid1662523: Binding affinity to RORgammat (unknown origin) assessed as dissociation constant by thermal shift binding assaykd<0.0001uM
[4-chloro-3-[(4,4-difluorocyclohexyl)methyl]-2-methoxyquinolin-6-yl]-(2,6-dimethyl-3-pyridinyl)-(3-methyltriazol-4-yl)methanol1544476: Displacement of thermofluor from human recombinant N-terminal TEV cleavage site-fused-His-tagged RORgammat LBD expressed in Escherichia coli assessed as equilibrium binding constants by fluorescence-based thermal shift assaykd0.0001uM
3-[[5-[4-(tert-butylsulfamoyl)-5,6,7,8-tetrahydronaphthalen-1-yl]-4-(cyclohexylmethyl)-1,3-thiazole-2-carbonyl]amino]cyclobutane-1-carboxylic acid1494612: Binding affinity to recombinant human RORgamma LBD (237 to 497 residues) expressed in Escherichia coli BL21 (DE3) GOLD by 1,8-ANS dye-based thermofluor assaykd0.0001uM
3-[[4-(cyclohexylmethyl)-5-[4-(2-methylbutan-2-ylsulfamoyl)naphthalen-1-yl]-1,3-thiazole-2-carbonyl]amino]cyclobutane-1-carboxylic acid1494612: Binding affinity to recombinant human RORgamma LBD (237 to 497 residues) expressed in Escherichia coli BL21 (DE3) GOLD by 1,8-ANS dye-based thermofluor assaykd0.0001uM
3-[5-[5-[2-(difluoromethyl)-3-fluoro-4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]phenyl]-4-[(4-fluorophenyl)methyl]-1,3-thiazol-2-yl]-1,3,4-oxadiazol-2-yl]-2,2-dimethylpropanoic acid1662523: Binding affinity to RORgammat (unknown origin) assessed as dissociation constant by thermal shift binding assaykd0.0001uM
5-[2,3-dichloro-4-[[(2S)-1,1,1-trifluorobutan-2-yl]sulfamoyl]phenyl]-4-(4-fluoropiperidine-1-carbonyl)-N-(6-oxaspiro[2.5]octan-2-yl)-1,3-thiazole-2-carboxamide1660035: Binding affinity to human RORgamma LBD by thermofluor thermal shift assaykd0.0001uM
5-[2,3-dichloro-4-[[1-(trifluoromethyl)cyclopropyl]sulfamoyl]phenyl]-4-(4,4-difluoropiperidine-1-carbonyl)-N-(2-hydroxy-2-methylpropyl)-1,3-thiazole-2-carboxamide1660035: Binding affinity to human RORgamma LBD by thermofluor thermal shift assaykd0.0001uM
5-[2,3-dichloro-4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]phenyl]-4-[(2S,4R)-4-fluoro-2-methylpiperidine-1-carbonyl]-N-(2-hydroxy-2-methylpropyl)-1,3-thiazole-2-carboxamide1660035: Binding affinity to human RORgamma LBD by thermofluor thermal shift assaykd0.0001uM
5-[2,3-dichloro-4-[[(2S)-1,1,1-trifluoro-3,3-dimethylbutan-2-yl]sulfamoyl]phenyl]-4-(4-fluoropiperidine-1-carbonyl)-N-(2-hydroxy-2-methylpropyl)-1,3-thiazole-2-carboxamide1660035: Binding affinity to human RORgamma LBD by thermofluor thermal shift assaykd0.0001uM
3-[4-(cyclobutylmethyl)-5-[2,3-dichloro-4-[[(2S)-1,1,1-trifluorobutan-2-yl]sulfamoyl]phenyl]-1,3-thiazol-2-yl]-2,2-dimethylpropanoic acid1662523: Binding affinity to RORgammat (unknown origin) assessed as dissociation constant by thermal shift binding assaykd0.0001uM
4-(6-azaspiro[2.5]octane-6-carbonyl)-5-[2,3-dichloro-4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]phenyl]-N-(2-hydroxy-2-methylpropyl)-1,3-thiazole-2-carboxamide1660035: Binding affinity to human RORgamma LBD by thermofluor thermal shift assaykd0.0002uM
3-[[4-(cyclohexylmethyl)-5-[4-[(4-fluoro-2-methylbutan-2-yl)sulfamoyl]naphthalen-1-yl]-1,3-thiazole-2-carbonyl]amino]cyclobutane-1-carboxylic acid1494612: Binding affinity to recombinant human RORgamma LBD (237 to 497 residues) expressed in Escherichia coli BL21 (DE3) GOLD by 1,8-ANS dye-based thermofluor assaykd0.0002uM
5-[6-(2,2-dimethylpropylamino)-4-(trifluoromethyl)-3-pyridinyl]-N-(2-hydroxy-2-methylpropyl)-4-[(2S)-2-methylpiperidine-1-carbonyl]-1,3-thiazole-2-carboxamide1960093: Inhibition of human RORgammmat LBD expressed in Escherichia coli by ThermoFluro assaykd0.0002uM
N-[3-[(2R,4R)-2,4-dimethylpiperidine-1-carbonyl]-4,5,6,7-tetrahydro-1-benzothiophen-2-yl]pyridine-3-carboxamide1989383: Inverse agonist activity at GST-tagged RORgammaT LBD (unknown origin) expressed in insect cells assessed as inhibition of biotinyl-NH-Ahx NSHQKVTLLQLLLGHKNEEN-CONH coactivator peptide recruitment at pH 7.4 at 293K by TR-FRET assayic500.0002uM
5-[2,3-dichloro-4-[[(2S)-1,1,1-trifluoro-3-methylbutan-2-yl]sulfamoyl]phenyl]-4-(4-fluoropiperidine-1-carbonyl)-N-(2-hydroxy-2-methylpropyl)-1,3-thiazole-2-carboxamide1660035: Binding affinity to human RORgamma LBD by thermofluor thermal shift assaykd0.0002uM
4-N-(1-bicyclo[1.1.1]pentanyl)-5-[2,3-dichloro-4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]phenyl]-4-N-ethyl-2-N-(2-hydroxy-2-methylpropyl)-1,3-thiazole-2,4-dicarboxamide1660035: Binding affinity to human RORgamma LBD by thermofluor thermal shift assaykd0.0002uM
[4-chloro-2-methoxy-3-[(4-pyrazol-1-ylphenyl)methyl]quinolin-6-yl]-bis(2,3-dimethylimidazol-4-yl)methanol1366775: Displacement of 1,8-ANS from human N-terminal His-tagged RORgammat LBD (850 to 1635 residues) expressed in Escherichia coli by thermofluor assaykd0.0003uM
[4-chloro-2-methoxy-3-[[4-(trifluoromethyl)piperidin-1-yl]methyl]quinolin-6-yl]-(3-methylimidazol-4-yl)-[2-(trifluoromethyl)-4-pyridinyl]methanol1544476: Displacement of thermofluor from human recombinant N-terminal TEV cleavage site-fused-His-tagged RORgammat LBD expressed in Escherichia coli assessed as equilibrium binding constants by fluorescence-based thermal shift assaykd0.0003uM
3-[5-[4-(cyclobutylmethyl)-5-[4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]naphthalen-1-yl]-1,3-thiazol-2-yl]-1,3,4-oxadiazol-2-yl]-2,2-dimethylpropanoic acid1662523: Binding affinity to RORgammat (unknown origin) assessed as dissociation constant by thermal shift binding assaykd0.0003uM
5-[4-(tert-butylsulfamoyl)naphthalen-1-yl]-4-(cyclohexylmethyl)-N-[(4-ethylsulfonylphenyl)methyl]-1,3-thiazole-2-carboxamide1494612: Binding affinity to recombinant human RORgamma LBD (237 to 497 residues) expressed in Escherichia coli BL21 (DE3) GOLD by 1,8-ANS dye-based thermofluor assaykd0.0003uM
5-[2,3-dichloro-4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]phenyl]-N-(2-hydroxy-2-methylpropyl)-4-[(2S)-2-methylpiperidine-1-carbonyl]-1,3-thiazole-2-carboxamide1660035: Binding affinity to human RORgamma LBD by thermofluor thermal shift assaykd0.0003uM
5-[2,3-dichloro-4-[[(2S)-1,1,1-trifluorobutan-2-yl]sulfamoyl]phenyl]-4-(4,4-difluoropiperidine-1-carbonyl)-N-(2-hydroxy-2-methylpropyl)-1,3-thiazole-2-carboxamide1660035: Binding affinity to human RORgamma LBD by thermofluor thermal shift assaykd0.0003uM
5-[2,3-dichloro-4-[[(2S)-1,1,1-trifluorobutan-2-yl]sulfamoyl]phenyl]-4-N,4-N-diethyl-2-N-(2-hydroxy-2-methylpropyl)-1,3-thiazole-2,4-dicarboxamide1660035: Binding affinity to human RORgamma LBD by thermofluor thermal shift assaykd0.0003uM
5-[2,3-dichloro-4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]phenyl]-4-(4-fluoropiperidine-1-carbonyl)-N-[2-methyl-2-(5-oxo-4H-1,2,4-oxadiazol-3-yl)propyl]-1,3-thiazole-2-carboxamide1660035: Binding affinity to human RORgamma LBD by thermofluor thermal shift assaykd0.0003uM
3-[4-(cyclobutylmethyl)-5-[2-(difluoromethyl)-3-fluoro-4-[[(2S)-1,1,1-trifluorobutan-2-yl]sulfamoyl]phenyl]-1,3-thiazol-2-yl]-2,2-dimethylpropanoic acid1662523: Binding affinity to RORgammat (unknown origin) assessed as dissociation constant by thermal shift binding assaykd0.0003uM
3-[5-[5-[2-(difluoromethyl)-3-fluoro-4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]phenyl]-4-[(3,3-difluoropiperidin-1-yl)methyl]-1,3-thiazol-2-yl]-1,3,4-oxadiazol-2-yl]-2,2-dimethylpropanoic acid1662523: Binding affinity to RORgammat (unknown origin) assessed as dissociation constant by thermal shift binding assaykd0.0003uM
5-[2,3-dichloro-4-[[(2S)-1,1,1-trifluorobutan-2-yl]sulfamoyl]phenyl]-N-(1,1-dioxothian-4-yl)-4-(4-fluoropiperidine-1-carbonyl)-1,3-thiazole-2-carboxamide1660035: Binding affinity to human RORgamma LBD by thermofluor thermal shift assaykd0.0003uM
[4-chloro-2-methoxy-3-[(4-pyrazol-1-ylphenyl)methyl]quinolin-6-yl]-(2,3-dimethylimidazol-4-yl)-(3-methyltriazol-4-yl)methanol1366775: Displacement of 1,8-ANS from human N-terminal His-tagged RORgammat LBD (850 to 1635 residues) expressed in Escherichia coli by thermofluor assaykd0.0004uM
5-[4-(tert-butylsulfamoyl)naphthalen-1-yl]-4-(cyclohexylmethyl)-N-(oxan-4-yl)-1,3-thiazole-2-carboxamide1494612: Binding affinity to recombinant human RORgamma LBD (237 to 497 residues) expressed in Escherichia coli BL21 (DE3) GOLD by 1,8-ANS dye-based thermofluor assaykd0.0004uM
N-(3-amino-2,2-dimethyl-3-oxopropyl)-5-[4-(tert-butylsulfamoyl)naphthalen-1-yl]-4-(cyclohexylmethyl)-1,3-thiazole-2-carboxamide1494614: Inverse agonist activity at human GAL4 DBD-fused RORgammat LBD (237 to 497 residues) expressed in HEK293T cells assessed as reduction in ROR mediated transcriptional activity after 24 hrs by dual glo luciferase reporter gene assayic500.0004uM
3-[[5-[4-(tert-butylsulfamoyl)-2,3-dichlorophenyl]-4-(cyclohexylmethyl)-1,3-thiazole-2-carbonyl]amino]cyclobutane-1-carboxylic acid1494612: Binding affinity to recombinant human RORgamma LBD (237 to 497 residues) expressed in Escherichia coli BL21 (DE3) GOLD by 1,8-ANS dye-based thermofluor assaykd0.0004uM
3-[3-[4-(cyclobutylmethyl)-5-[2,3-dichloro-4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]phenyl]-1,3-thiazol-2-yl]-1,2,4-oxadiazol-5-yl]-2,2-dimethylpropanoic acid1662523: Binding affinity to RORgammat (unknown origin) assessed as dissociation constant by thermal shift binding assaykd0.0004uM
N-[3-(benzylcarbamoyl)-4,5,6,7-tetrahydro-1-benzothiophen-2-yl]-5-chloro-2-methylsulfanylpyrimidine-4-carboxamide1989383: Inverse agonist activity at GST-tagged RORgammaT LBD (unknown origin) expressed in insect cells assessed as inhibition of biotinyl-NH-Ahx NSHQKVTLLQLLLGHKNEEN-CONH coactivator peptide recruitment at pH 7.4 at 293K by TR-FRET assayic500.0004uM
5-[2-chloro-3-fluoro-4-[[(2S)-1,1,1-trifluorobutan-2-yl]sulfamoyl]phenyl]-4-(4,4-difluoropiperidine-1-carbonyl)-N-(2-hydroxy-2-methylpropyl)-1,3-thiazole-2-carboxamide1660035: Binding affinity to human RORgamma LBD by thermofluor thermal shift assaykd0.0004uM
5-[2,3-dichloro-4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]phenyl]-4-N-ethyl-2-N-(2-hydroxy-2-methylpropyl)-4-N-(2,2,2-trifluoroethyl)-1,3-thiazole-2,4-dicarboxamide1660035: Binding affinity to human RORgamma LBD by thermofluor thermal shift assaykd0.0004uM
3-[4-(cyclobutylmethyl)-5-[2,3-dichloro-4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]phenyl]-1,3-thiazol-2-yl]-2,2-dimethylpropanoic acid1662523: Binding affinity to RORgammat (unknown origin) assessed as dissociation constant by thermal shift binding assaykd0.0004uM
(2,4-dichloro-3-phenylquinolin-6-yl)-(3-methylimidazol-4-yl)-quinolin-4-ylmethanol1366775: Displacement of 1,8-ANS from human N-terminal His-tagged RORgammat LBD (850 to 1635 residues) expressed in Escherichia coli by thermofluor assaykd0.0005uM
5-[4-(tert-butylsulfamoyl)naphthalen-1-yl]-4-(cyclohexylmethyl)-N-(1,1-dioxothietan-3-yl)-1,3-thiazole-2-carboxamide1494612: Binding affinity to recombinant human RORgamma LBD (237 to 497 residues) expressed in Escherichia coli BL21 (DE3) GOLD by 1,8-ANS dye-based thermofluor assaykd0.0005uM
3-[5-[4-(cyclobutylmethyl)-5-[2,3-dichloro-4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]phenyl]-1,3-thiazol-2-yl]-1,3-thiazol-2-yl]-2,2-dimethylpropanoic acid1662523: Binding affinity to RORgammat (unknown origin) assessed as dissociation constant by thermal shift binding assaykd0.0005uM
(S)-[4-chloro-2-methoxy-3-[[4-(trifluoromethyl)piperidin-1-yl]methyl]quinolin-6-yl]-(2,3-dimethylimidazol-4-yl)-[2-(trifluoromethyl)-4-pyridinyl]methanol1544476: Displacement of thermofluor from human recombinant N-terminal TEV cleavage site-fused-His-tagged RORgammat LBD expressed in Escherichia coli assessed as equilibrium binding constants by fluorescence-based thermal shift assaykd0.0005uM
5-[2,3-dichloro-4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]phenyl]-4-[(2S,4S)-4-fluoro-2-methylpiperidine-1-carbonyl]-N-(2-hydroxy-2-methylpropyl)-1,3-thiazole-2-carboxamide1660035: Binding affinity to human RORgamma LBD by thermofluor thermal shift assaykd0.0005uM
5-[2,3-dichloro-4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]phenyl]-N-(2-hydroxy-2-methylpropyl)-4-(4-methylpiperidine-1-carbonyl)-1,3-thiazole-2-carboxamide1660035: Binding affinity to human RORgamma LBD by thermofluor thermal shift assaykd0.0005uM
4-N-cyclobutyl-5-[2,3-dichloro-4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]phenyl]-4-N-ethyl-2-N-(2-hydroxy-2-methylpropyl)-1,3-thiazole-2,4-dicarboxamide1660035: Binding affinity to human RORgamma LBD by thermofluor thermal shift assaykd0.0005uM
5-[2-(difluoromethyl)-3-fluoro-4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]phenyl]-N-(2-hydroxy-2-methylpropyl)-4-[(2S)-2-methylpiperidine-1-carbonyl]-1,3-thiazole-2-carboxamide1660035: Binding affinity to human RORgamma LBD by thermofluor thermal shift assaykd0.0005uM
[4-chloro-2-methoxy-3-[[4-(trifluoromethyl)piperidin-1-yl]methyl]quinolin-6-yl]-(2,3-dimethylimidazol-4-yl)-(oxan-4-yl)methanol1544476: Displacement of thermofluor from human recombinant N-terminal TEV cleavage site-fused-His-tagged RORgammat LBD expressed in Escherichia coli assessed as equilibrium binding constants by fluorescence-based thermal shift assaykd0.0006uM
5-[2,3-dichloro-4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]phenyl]-4-(4,4-difluoropiperidine-1-carbonyl)-N-(2-hydroxy-2-methylpropyl)-1,3-thiazole-2-carboxamide1660035: Binding affinity to human RORgamma LBD by thermofluor thermal shift assaykd0.0006uM
N-[5-chloro-6-[(1S)-1-phenylethoxy]-3-pyridinyl]-2-(4-ethylsulfonylphenyl)acetamide1506236: Inverse agonist activity at human His6-tagged RORgammat LBD (264 to 518 residues) assessed as reduction in biotinylated RIP140 co-activator recruitment after 1hr by TR-FRET assayic500.0006uM

CTD chemical–gene interactions

60 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Acetaminophendecreases expression, increases expression3
Benzo(a)pyreneaffects methylation, decreases expression, decreases methylation3
Estradiolaffects cotreatment, decreases expression3
Tetrachlorodibenzodioxinaffects cotreatment, decreases expression3
25-hydroxycholesteroldecreases reaction, affects binding2
2-(1’H-indole-3’-carbonyl)thiazole-4-carboxylic acid methyl esteraffects expression, affects cotreatment, increases expression, decreases expression2
Nickeldecreases expression2
Aflatoxin B1affects expression, decreases expression, decreases methylation2
dihydroouabainaffects binding, increases reaction, increases expression1
triptolidedecreases expression1
bufotalindecreases expression1
methyleugenoldecreases expression1
triphenyl phosphateaffects expression1
bisphenol Aaffects binding, decreases activity, decreases reaction1
helveticosideincreases expression1
lead acetatedecreases expression1
sulforaphanedecreases expression1
3-phenoxybenzoic acidaffects binding1
sodium arsenitedecreases expression1
butyraldehydedecreases expression1
cupric chloridedecreases expression1
fluvalinateaffects binding1
cyhalothrinaffects binding1
tryptanthrinedecreases reaction, increases expression1
azoxystrobinincreases activity1
bifenthrinaffects binding1
6-formylindolo(3,2-b)carbazoleaffects expression1
rofecoxibdecreases expression1
dihydroxy-vitamin D3decreases response to substance, increases expression1
T0901317decreases activity, decreases reaction, affects binding1

ChEMBL screening assays

758 unique, capped per target: 707 binding, 50 functional, 1 unclassified

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL1738628UnclassifiedPUBCHEM_BIOASSAY: Late stage results from the probe development effort to identify novel modulators of the Retinoic acid receptor-related Orphan Receptors (ROR). (Class of assay: screening) [Related pubchem assays (depositor defined):AID213PubChem BioAssay data set
CHEMBL1961836BindingEffect on RORG(NR1F3) dependent reporter activity in HEK293 cells at 20 uMRegulation of circadian behaviour and metabolism by synthetic REV-ERB agonists. — Nature
CHEMBL2114768FunctionalPubChem BioAssay. Late stage assay provider counterscreen from the probe development effort to identify selective inverse agonists of the Retinoic acid receptor-related Orphan Receptor Gamma (RORC): radioligand binding for ROR gamma using SPubChem BioAssay data set

Cellosaurus cell lines

7 cell lines: 3 embryonic stem cell, 3 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_A5X1SEES3-1V human RORC, clone1Embryonic stem cellMale
CVCL_A5X2SEES3-1V human RORC, clone2Embryonic stem cellMale
CVCL_A5X3SEES3-1V human RORC, clone3Embryonic stem cellMale
CVCL_B2E2Abcam HeLa RORC KOCancer cell lineFemale
CVCL_B8NWAbcam HCT 116 RORC KOCancer cell lineMale
CVCL_B9R8Abcam A-549 RORC KOCancer cell lineMale
CVCL_D7HDUbigene HEK293T RORC KOTransformed cell lineFemale

Clinical trials (associated diseases)

28 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT07285005PHASE3NOT_YET_RECRUITINGA Study to Investigate Efficacy and Safety of KP-001 Compared With Placebo in Patients Aged ≥2 Years With Common VM, Common LM, or KTS/CLOVES Syndrome
NCT02335242PHASE2COMPLETEDSildenafil for the Treatment of Lymphatic Malformations
NCT03243019PHASE2RECRUITINGEfficacy of Rapamycin in the Treatment of Cervico-facial Lymphatic Malformations
NCT03427619PHASE2COMPLETEDOK432 (Picibanil) in the Treatment of Lymphatic Malformations
NCT03972592PHASE2COMPLETEDTopical Sirolimus in Cutaneous Lymphatic Malformations
NCT04861064PHASE2RECRUITINGWeekly Sirolimus Therapy
NCT05871970PHASE2RECRUITINGSafety and Efficacy Study of Intracystic TARA-002 for the Treatment of Lymphatic Malformations in Participants 6 Months to Less Than 18 Years of Age
NCT05983159PHASE2RECRUITINGA Trial of Targeted Therapies for Patients With Slow-Flow or Fast-Flow Vascular Malformations
NCT06437158PHASE2RECRUITINGUse of Bleomycin in the Sclerotherapy of Lymphatic Malformations for Pediatric Patients
NCT06789913PHASE2RECRUITINGA Phase 2 Study of Mutant-selective PI3Kα Inhibitor, RLY-2608, in Adults and Children With PIK3CA Related Overgrowth Spectrum and Malformations Driven by PIK3CA Mutation
NCT01212965PHASE1TERMINATEDSelenium in the Treatment of Complicated Lymphatic Malformations
NCT04994002PHASE1WITHDRAWNA Pharmacokinetic, Pharmacodynamic, Safety and Tolerability Study of CERC-006 in Adults With Complex Lymphatic Malformations
NCT00010452PHASE2/PHASE3COMPLETEDStudy of Picibanil (OK432) Sclerotherapy in Children With Macrocystic Lymphatic Malformations
NCT05948943PHASE2/PHASE3RECRUITINGAlpelisib in Pediatric and Adult Patients With Lymphatic Malformations Associated With a PIK3CA Mutation.
NCT06673290PHASE2/PHASE3RECRUITINGDifferent Doses of Sirolimus for the Treatment of Cystic Lymphatic Malformations
NCT04409145PHASE1/PHASE2TERMINATEDFirst in Human Trial of Topical VT30 in Pts With Venous/Lymphatic Malformations Assoc With PIK3CA or TEK Gene Mutations
NCT00577213Not specifiedCOMPLETEDDiagnosis of Hemangiomas and Vascular Malformations
NCT00866827Not specifiedCOMPLETEDAirway Vascular Lesions
NCT02399527Not specifiedRECRUITINGLymphatic Anomalies Registry for the Assessment of Outcome Data
NCT04836884Not specifiedCOMPLETEDVascular Anomaly Pathology and Genomics Biopsy Study
NCT05563831Not specifiedCOMPLETEDNational Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS)
NCT06257719Not specifiedCOMPLETEDClinical Characteristics of Lymphatic Malformations
NCT06275022Not specifiedRECRUITINGA Prospective Study on the Treatment of cLM Based on ICG Imaging
NCT06755905Not specifiedCOMPLETEDIndocyanine Green Lymphography in Management of Lingual Lymphatic Malformation
NCT06892964Not specifiedRECRUITINGInstitution of an Italian Registry and Biobank for Biological Sample Collection
NCT06943703Not specifiedCOMPLETEDBleomycin as an Effective and Curative Adjunct Therapy for Lymphangioma
NCT06994260Not specifiedNOT_YET_RECRUITINGDiagnostic Imaging of Vascular Malformations Using MSOT and ULM
NCT07189832Not specifiedCOMPLETEDBleomycin Intralesional Injections of Cystic Hygromas

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

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This page pulls from 81 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgtopdb_interactiongwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpatentpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomereactomeparentrefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot