DR1

gene
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Also known as NC2-BETANC2BNCB2

Summary

DR1 (down-regulator of transcription 1, HGNC:3017) is a protein-coding gene on chromosome 1p22.1, encoding Protein Dr1 (Q01658). The association of the DR1/DRAP1 heterodimer with TBP results in a functional repression of both activated and basal transcription of class II genes. It is a selective cancer dependency (DepMap: 87.5% of cell lines).

This gene encodes a TBP- (TATA box-binding protein) associated phosphoprotein that represses both basal and activated levels of transcription. The encoded protein is phosphorylated in vivo and this phosphorylation affects its interaction with TBP. This protein contains a histone fold motif at the amino terminus, a TBP-binding domain, and a glutamine- and alanine-rich region. The binding of DR1 repressor complexes to TBP-promoter complexes may establish a mechanism in which an altered DNA conformation, together with the formation of higher order complexes, inhibits the assembly of the preinitiation complex and controls the rate of RNA polymerase II transcription.

Source: NCBI Gene 1810 — RefSeq curated summary.

At a glance

  • GWAS associations: 30
  • Clinical variants (ClinVar): 11 total
  • Cancer dependency (DepMap): dependent in 87.5% of screened cell lines
  • MANE Select transcript: NM_001938

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:3017
Approved symbolDR1
Namedown-regulator of transcription 1
Location1p22.1
Locus typegene with protein product
StatusApproved
AliasesNC2-BETA, NC2B, NCB2
Ensembl geneENSG00000117505
Ensembl biotypeprotein_coding
OMIM601482
Entrez1810

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000370267, ENST00000370272, ENST00000481583, ENST00000937480

RefSeq mRNA: 1 — MANE Select: NM_001938 NM_001938

CCDS: CCDS744

Canonical transcript exons

ENST00000370272 — 3 exons

ExonStartEnd
ENSE000007770389335390893354071
ENSE000014522279336049393369493
ENSE000014522309334590793346865

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 98.09.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 50.7236 / max 257.0457, expressed in 1820 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
405949.85471819
40610.5216202
40600.3473110

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
choroid plexus epitheliumUBERON:000391198.09gold quality
penisUBERON:000098996.89gold quality
adult organismUBERON:000702396.60gold quality
skeletal muscle tissue of biceps brachiiUBERON:000450296.09gold quality
amniotic fluidUBERON:000017396.04gold quality
buccal mucosa cellCL:000233695.94gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451195.90gold quality
biceps brachiiUBERON:000150795.63gold quality
upper leg skinUBERON:000426295.27gold quality
tibiaUBERON:000097995.16gold quality
body of tongueUBERON:001187695.05gold quality
oral cavityUBERON:000016794.96gold quality
superficial temporal arteryUBERON:000161494.62gold quality
skin of hipUBERON:000155494.53gold quality
heart right ventricleUBERON:000208094.53gold quality
urethraUBERON:000005794.18gold quality
synovial jointUBERON:000221794.12gold quality
superior surface of tongueUBERON:000737194.11gold quality
seminal vesicleUBERON:000099893.99gold quality
bone marrowUBERON:000237193.99gold quality
trabecular bone tissueUBERON:000248393.99gold quality
tongueUBERON:000172393.96gold quality
monocyteCL:000057693.79gold quality
mononuclear cellCL:000084293.71gold quality
leukocyteCL:000073893.68gold quality
jejunumUBERON:000211593.51gold quality
pigmented layer of retinaUBERON:000178293.45gold quality
cartilage tissueUBERON:000241893.42gold quality
lateral nuclear group of thalamusUBERON:000273693.35gold quality
germinal epithelium of ovaryUBERON:000130493.08gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes10.74
E-MTAB-7303no36.28

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

4 targets.

TargetRegulation
NR1I2Activation
NR2C2Unknown
PTGS2Activation
TBPRepression

Upstream regulators (CollecTRI, top): BTAF1, HNF4A, NCOA2, NR0B1, NR1H4, NR1I3, NR2F1, NR2F2, TBP, ZIC1

miRNA regulators (miRDB)

177 targeting DR1, 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-LET-7F-1-3P100.0074.023928
HSA-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-MIR-98-3P100.0074.083907
HSA-MIR-9-5P100.0072.282361
HSA-MIR-4425100.0067.591049
HSA-MIR-450A-1-3P100.0069.331837
HSA-MIR-3163100.0077.238605
HSA-MIR-656-3P100.0072.152788
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-5692B100.0071.322622
HSA-MIR-5692C100.0071.322622
HSA-MIR-200B-3P100.0073.312693
HSA-MIR-200C-3P100.0073.352685
HSA-MIR-429100.0073.442698
HSA-MIR-513B-5P99.9969.962150
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-428299.9975.366408
HSA-MIR-3667-3P99.9967.171636
HSA-MIR-548N99.9871.944170
HSA-MIR-480399.9871.993117
HSA-MIR-548P99.9872.253784
HSA-MIR-314899.9775.066478
HSA-MIR-365899.9673.874379
HSA-MIR-9-3P99.9670.882068
HSA-MIR-1468-3P99.9672.743797
HSA-MIR-548AJ-3P99.9673.385345
HSA-MIR-548X-3P99.9673.385345
HSA-MIR-1250-3P99.9670.044038

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 87.5% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 11)

  • NC2 controls TBP binding and maintenance on DNA that is largely independent of a canonical TATA sequence (PMID:15574413)
  • the initiator core promoter element antagonizes repression of TATA-directed transcription by negative cofactor NC2 (PMID:17584739)
  • Data show that NC2beta is specifically involved in neuroblastoma pathogenesis and may be considered a new neuroblastoma biomarker. (PMID:18538002)
  • ATAC Is a GCN5/PCAF-containing acetylase complex with a novel NC2-like histone fold module that interacts with the TATA-binding protein (PMID:18838386)
  • heterodimerization with NC2alpha masks the nuclear localization signal in NC2beta, which prevents nuclear export of the NC2 complex (PMID:19204005)
  • The physiological functions of human Dr1 include regulation of polymerase III transcription. (PMID:19965767)
  • Basal core promoters control the equilibrium between negative cofactor 2 and preinitiation complexes in human cells. (PMID:20230619)
  • Knockdown of DR1 resulted in reductions of viral RNA and protein production, demonstrating that DR1 acts as a positive host factor in influenza A virus replication. (PMID:25589657)
  • results suggest that DR1 are expressed in the osteosarcoma cells and inhibit the proliferation of osteosarcoma cells by the down-regulation of the ERK1/2 and PI3K-Akt pathways. (PMID:28181134)
  • Up-regulation of microRNA-203 in influenza A virus infection inhibits viral replication by targeting DR1. (PMID:29717211)
  • Downregulation of transcription 1 hinders the replication of Dabie bandavirus by promoting the expression of TLR7, TLR8, and TLR9 signaling pathway. (PMID:38194758)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_reriodr1ENSDARG00000105098
mus_musculusDr1ENSMUSG00000029265
rattus_norvegicusDr1ENSRNOG00000000070
drosophila_melanogasterNC2betaFBGN0028926
caenorhabditis_elegansWBGENE00001092

Paralogs (2): NFYB (ENSG00000120837), FAM47E (ENSG00000189157)

Protein

Protein identifiers

Protein Dr1Q01658 (reviewed: Q01658)

Alternative names: Down-regulator of transcription 1, Negative cofactor 2-beta, TATA-binding protein-associated phosphoprotein

All UniProt accessions (2): Q01658, Q658N3

UniProt curated annotations — full annotation on UniProt →

Function. The association of the DR1/DRAP1 heterodimer with TBP results in a functional repression of both activated and basal transcription of class II genes. This interaction precludes the formation of a transcription-competent complex by inhibiting the association of TFIIA and/or TFIIB with TBP. Can bind to DNA on its own. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4.

Subunit / interactions. Heterodimer with DRAP1. DR1 exists in solution as a homotetramer that dissociates during interaction with TBP and then, after complexing with TBP, reassociates at a slow rate, to reconstitute the tetramer. Interacts with NFIL3. Component of the ADA2A-containing complex (ATAC), composed of KAT14, KAT2A, TADA2L, TADA3L, ZZ3, MBIP, WDR5, YEATS2, CCDC101 and DR1.

Subcellular location. Nucleus.

Post-translational modifications. Phosphorylation regulates its interaction with TBP. Not phosphorylated when bound to DRAP1.

Similarity. Belongs to the NC2 beta/DR1 family.

RefSeq proteins (1): NP_001929* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR003958CBFA_NFYB_domainDomain
IPR009072Histone-foldHomologous_superfamily
IPR042225Ncb2Family

Pfam: PF00808

UniProt features (20 total): helix 6, modified residue 5, strand 2, initiator methionine 1, chain 1, sequence variant 1, domain 1, region of interest 1, short sequence motif 1, compositionally biased region 1

Structure

Experimental structures (PDB)

1 structures.

PDBMethodResolution (Å)
1JFIX-RAY DIFFRACTION2.62

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q01658-F187.840.73

Functional residue map

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

Post-translational modifications (5): 167, 2, 105, 106, 166

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

IDPathway
R-HSA-3214847HATs acetylate histones
R-HSA-9772755Formation of WDR5-containing histone-modifying complexes
R-HSA-212165Epigenetic regulation of gene expression
R-HSA-3247509Chromatin modifying enzymes
R-HSA-4839726Chromatin organization
R-HSA-74160Gene expression (Transcription)
R-HSA-9917777Epigenetic regulation by WDR5-containing histone modifying complexes

MSigDB gene sets: 270 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, AAGCAAT_MIR137, WANG_CLIM2_TARGETS_UP, GOBP_REGULATION_OF_PROTEIN_DEACETYLATION, GOZGIT_ESR1_TARGETS_DN, GOBP_MACROMOLECULE_DEACYLATION, MORF_HDAC1, MORF_UBE2N, TATTATA_MIR374, GENTILE_RESPONSE_CLUSTER_D3, BROWNE_HCMV_INFECTION_16HR_UP, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, WEI_MYCN_TARGETS_WITH_E_BOX

GO Biological Process (8): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), regulation of embryonic development (GO:0045995), RNA polymerase II preinitiation complex assembly (GO:0051123), regulation of cell division (GO:0051302), regulation of cell cycle (GO:0051726), DNA-templated transcription (GO:0006351)

GO Molecular Function (6): DNA binding (GO:0003677), RNA polymerase II general transcription initiation factor activity (GO:0016251), TBP-class protein binding (GO:0017025), protein heterodimerization activity (GO:0046982), protein binding (GO:0005515), general transcription initiation factor activity (GO:0140223)

GO Cellular Component (6): nucleoplasm (GO:0005654), negative cofactor 2 complex (GO:0017054), mitotic spindle (GO:0072686), RNA polymerase II transcription regulator complex (GO:0090575), ATAC complex (GO:0140672), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-5 pathways:

CategoryPathways
Chromatin modifying enzymes1
Epigenetic regulation by WDR5-containing histone modifying complexes1
Gene expression (Transcription)1
Chromatin organization1
Epigenetic regulation of gene expression1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
transcription by RNA polymerase II3
DNA-templated transcription2
regulation of cellular process2
regulation of transcription by RNA polymerase II1
negative regulation of DNA-templated transcription1
regulation of gene expression1
regulation of RNA biosynthetic process1
regulation of DNA-templated transcription1
embryo development1
regulation of multicellular organismal development1
transcription initiation at RNA polymerase II promoter1
transcription preinitiation complex assembly1
cell division1
cell cycle1
gene expression1
RNA biosynthetic process1
nucleic acid binding1
general transcription initiation factor activity1
general transcription initiation factor binding1
protein dimerization activity1
binding1
molecular_function1
nuclear lumen1
cellular anatomical structure1
RNA polymerase II transcription repressor complex1
spindle1
transcription regulator complex1
nuclear protein-containing complex1
SAGA-type complex1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

1274 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
DR1DRAP1Q14919990
DR1COL18A1P39060959
DR1TBPP20226953
DR1YEATS2Q9ULM3858
DR1MBIPQ9NS73842
DR1CENPWQ5EE01792
DR1GTF2BQ00403777
DR1COL8A1P27658762
DR1BTAF1O14981712
DR1CFAP20Q9Y6A4702
DR1COL7A1Q02388689
DR1ZZZ3Q8IYH5686
DR1WDR5P61964684
DR1COL8A2P25067669
DR1PPARGP37231641

IntAct

303 interactions, top by confidence:

ABTypeScore
DR1DRAP1psi-mi:“MI:0915”(physical association)0.950
DR1DRAP1psi-mi:“MI:2364”(proximity)0.950

BioGRID (151): TBP (Two-hybrid), POLE3 (Two-hybrid), DR1 (Two-hybrid), DR1 (Affinity Capture-MS), DR1 (Affinity Capture-MS), DR1 (Affinity Capture-MS), DR1 (Affinity Capture-MS), DR1 (Affinity Capture-MS), POLE3 (Two-hybrid), CCDC101 (Co-fractionation), COPS3 (Co-fractionation), DR1 (Co-fractionation), DRAP1 (Co-fractionation), DR1 (Affinity Capture-MS), DRAP1 (Co-fractionation)

ESM2 similar proteins: A0MQH0, A2AWA9, A4FUD6, A6QL63, A6QR06, A7MAZ4, B5KFI0, O75486, P54198, P70398, P79987, Q01658, Q148V7, Q1LVW0, Q3ZBE1, Q503N9, Q5BJQ7, Q5R8N4, Q5RAN1, Q5RCC1, Q5RCR8, Q5RCW6, Q5RDB9, Q5XI68, Q5ZMQ0, Q5ZMS1, Q5ZMV3, Q61666, Q62784, Q6GMF2, Q6GQW0, Q7Z7C8, Q7ZYA2, Q8BHL5, Q8BPU7, Q8R418, Q8VHE0, Q91WV0, Q92556, Q93008

Diamond homologs: B0Y0F3, O04027, O14348, O17286, O23310, O82248, P13434, P25207, P25208, P25209, P25210, P36611, P40914, P49592, P63139, P63140, Q01658, Q0J7P4, Q32KW0, Q4WFF8, Q54WV0, Q55DJ5, Q5QMG3, Q5XI68, Q5ZMV3, Q60EQ4, Q65XK1, Q67XJ2, Q69J40, Q6BIP4, Q6RG77, Q75IZ7, Q84W66, Q8VYK4, Q91WV0, Q92317, Q9FGJ3, Q9SFD8, Q9SIT9, Q9SLG0

SIGNOR signaling

1 interactions.

AEffectBMechanism
DR1“form complex”“NC2 complex”binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 86 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
Formation of WDR5-containing histone-modifying complexes530.2×1e-04
Epigenetic regulation by WDR5-containing histone modifying complexes517.5×7e-04
Epigenetic regulation of gene expression813.0×7e-05
Chromatin organization713.0×1e-04
Chromatin modifying enzymes711.5×2e-04

GO biological processes:

GO termPartnersFoldFDR
regulation of cell division550.4×2e-05
regulation of embryonic development626.1×3e-05
chromatin remodeling76.7×8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance6
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

461 predictions. Top by Δscore:

VariantEffectΔscore
1:93346862:CAAGG:Cdonor_loss1.0000
1:93346864:AGGT:Adonor_loss1.0000
1:93346866:GT:Gdonor_loss1.0000
1:93353906:A:AGacceptor_gain1.0000
1:93353907:G:GGacceptor_gain1.0000
1:93354067:CAAAA:Cdonor_gain1.0000
1:93354068:AAAA:Adonor_gain1.0000
1:93354069:AAA:Adonor_gain1.0000
1:93354070:AA:Adonor_gain1.0000
1:93354070:AAGT:Adonor_loss1.0000
1:93354071:AGT:Adonor_loss1.0000
1:93354072:G:GGdonor_gain1.0000
1:93360483:G:Aacceptor_gain1.0000
1:93360650:C:Gdonor_gain1.0000
1:93346867:T:Gdonor_loss0.9900
1:93353907:GC:Gacceptor_gain0.9900
1:93353907:GCA:Gacceptor_gain0.9900
1:93353907:GCACT:Gacceptor_gain0.9900
1:93354073:TAA:Tdonor_loss0.9900
1:93355980:T:Gdonor_gain0.9900
1:93360482:T:TAacceptor_gain0.9900
1:93360492:GGCTA:Gacceptor_gain0.9900
1:93360650:C:CGdonor_gain0.9900
1:93353903:TCTA:Tacceptor_loss0.9800
1:93353906:A:ACacceptor_loss0.9800
1:93354075:A:AGdonor_gain0.9800
1:93354076:G:GGdonor_gain0.9800
1:93360477:T:Gacceptor_gain0.9800
1:93360492:GGCT:Gacceptor_gain0.9800
1:93346866:G:GGdonor_gain0.9700

AlphaMissense

1158 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
1:93346685:C:TP14S1.000
1:93346686:C:AP14H1.000
1:93346686:C:TP14L1.000
1:93346690:A:CR15S1.000
1:93346690:A:TR15S1.000
1:93346692:C:AA16D1.000
1:93346695:C:AA17D1.000
1:93346703:A:GK20E1.000
1:93346705:A:CK20N1.000
1:93346705:A:TK20N1.000
1:93346712:A:GK23E1.000
1:93346713:A:TK23I1.000
1:93346714:A:CK23N1.000
1:93346714:A:TK23N1.000
1:93346737:T:AV31E1.000
1:93346748:G:CA35P1.000
1:93346749:C:AA35D1.000
1:93346752:G:CR36P1.000
1:93346758:T:CL38P1.000
1:93346769:T:CC42R1.000
1:93346772:T:CC43R1.000
1:93346773:G:AC43Y1.000
1:93346774:C:GC43W1.000
1:93346781:T:CF46L1.000
1:93346782:T:CF46S1.000
1:93346783:C:AF46L1.000
1:93346783:C:GF46L1.000
1:93346785:T:AI47N1.000
1:93346791:T:CL49P1.000
1:93346796:T:CS51P1.000

dbSNP variants (sampled 300 via entrez): RS1000141571 (1:93360334 G>A), RS1000209246 (1:93358820 C>T), RS1000310400 (1:93356965 G>A), RS1000494221 (1:93360743 C>T), RS1001291617 (1:93347757 C>G), RS1001743054 (1:93347458 G>A), RS1002311781 (1:93368030 A>T), RS1002321041 (1:93360855 A>G), RS1002375660 (1:93350129 A>C), RS1002383699 (1:93367838 C>G,T), RS1002428132 (1:93349726 A>T), RS1002652805 (1:93362517 G>A), RS1002673818 (1:93361050 G>GGGA,GGGC,GGGGGT), RS1002814172 (1:93348173 G>A), RS1002822939 (1:93356711 T>A,C,G)

Disease associations

OMIM: gene MIM:601482 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

30 associations (top):

StudyTraitp-value
GCST006003_1Triglyceride levels6.000000e-10
GCST008070_127HDL cholesterol levels6.000000e-09
GCST008070_62HDL cholesterol levels3.000000e-15
GCST008074_12Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)1.000000e-06
GCST008074_83Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)1.000000e-06
GCST008075_164HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)4.000000e-28
GCST008075_216HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)5.000000e-10
GCST008075_35HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)1.000000e-17
GCST008083_31Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)9.000000e-07
GCST008083_96Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)6.000000e-07
GCST008084_1HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)3.000000e-17
GCST008084_115HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)4.000000e-12
GCST008084_213HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)4.000000e-31
GCST008085_144HDL cholesterol levels in current drinkers8.000000e-12
GCST008085_61HDL cholesterol levels in current drinkers3.000000e-19
GCST008085_89HDL cholesterol levels in current drinkers3.000000e-07
GCST008087_2Triglyceride levels in current drinkers3.000000e-06
GCST008477_27Emphysema annual change measurement in smokers (adjusted lung density)1.000000e-06
GCST008972_70Urate levels3.000000e-10
GCST009602_78Metabolic syndrome2.000000e-08
GCST010241_137Apolipoprotein A1 levels3.000000e-22
GCST010242_483HDL cholesterol levels9.000000e-32
GCST010244_140Triglyceride levels9.000000e-13
GCST011345_27Triglyceride levels1.000000e-10
GCST011348_65High density lipoprotein cholesterol levels2.000000e-14
GCST90002397_638Mean spheric corpuscular volume6.000000e-11
GCST90002403_12Red blood cell count4.000000e-10
GCST90011898_70Alanine aminotransferase levels2.000000e-10
GCST90011900_41Serum alkaline phosphatase levels2.000000e-12
GCST90013406_189Liver enzyme levels (alkaline phosphatase)2.000000e-15

EFO canonical traits (9, from GWAS)

EFO IDTrait name
EFO:0004530triglyceride measurement
EFO:0004612high density lipoprotein cholesterol measurement
EFO:0004329alcohol drinking
EFO:0007626emphysema imaging measurement
EFO:0004531urate measurement
EFO:0000195metabolic syndrome
EFO:0004614apolipoprotein A 1 measurement
EFO:0004305erythrocyte count
EFO:0004533alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Tetrachlorodibenzodioxindecreases expression, affects expression2
Valproic Aciddecreases methylation, increases expression2
Cyclosporineincreases expression2
aristolochic acid Iincreases expression1
bisphenol Adecreases expression1
geranioldecreases expression1
sodium arseniteincreases expression1
cobaltous chloridedecreases expression1
manganese chloridedecreases expression1
beta-methylcholineaffects expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
ICG 001decreases expression1
abrineincreases expression1
Grape Seed Proanthocyanidinsaffects cotreatment, increases expression1
eprenetapoptaffects reaction, affects expression1
LDN 193189affects cotreatment, increases expression1
Sunitinibincreases expression1
Leflunomideincreases expression1
Air Pollutantsaffects expression, increases abundance1
Caffeineaffects phosphorylation1
Catechinaffects cotreatment, increases expression1
Clozapinedecreases expression1
Diethylstilbestroldecreases expression1
Enzyme Inhibitorsincreases O-linked glycosylation, decreases activity1
Haloperidoldecreases expression1
Hydrogen Peroxideaffects expression1
Manganesedecreases expression1
Methyl Methanesulfonateincreases expression1
Ozoneaffects expression, increases abundance1
Seleniumdecreases expression1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

CellosaurusNameCategorySex
CVCL_B2W1Abcam HEK293T DR1 KOTransformed cell lineFemale

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.