RNF144B

Summary

RNF144B (ring finger protein 144B, HGNC:21578) is a protein-coding gene on chromosome 6p22.3, encoding E3 ubiquitin-protein ligase RNF144B (Q7Z419). E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates such as LCMT2, thereby promoting their degradation.

Enables ubiquitin-protein transferase activity. Involved in negative regulation of apoptotic process and ubiquitin-dependent protein catabolic process. Located in mitochondrial membrane.

Source: NCBI Gene 255488 — RefSeq curated summary.

At a glance

• GWAS associations: 20
• Clinical variants (ClinVar): 58 total
• MANE Select transcript: NM_182757

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21578
Approved symbol	RNF144B
Name	ring finger protein 144B
Location	6p22.3
Locus type	gene with protein product
Status	Approved
Aliases	bA528A10.3, P53RFP
Ensembl gene	ENSG00000137393
Ensembl biotype	protein_coding
OMIM	618869
Entrez	255488

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000259939, ENST00000486622, ENST00000882793, ENST00000882794, ENST00000882795, ENST00000941370, ENST00000941371

RefSeq mRNA: 1 — MANE Select: NM_182757 NM_182757

CCDS: CCDS34345

Canonical transcript exons

ENST00000259939 — 8 exons

Exon	Start	End
ENSE00000928762	18427581	18427685
ENSE00000928763	18457155	18457359
ENSE00000928764	18459607	18459751
ENSE00000928765	18463291	18463380
ENSE00000973386	18439684	18439744
ENSE00001902321	18464927	18468870
ENSE00002021582	18387350	18387630
ENSE00003688740	18399499	18399699

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 97.89.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.3961 / max 1951.0518, expressed in 1407 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
66193	17.2526	1303
66192	11.9573	879
66215	0.6161	226
203889	0.4630	197
66214	0.1071	42

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
deltoid	UBERON:0001476	97.89	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	97.81	gold quality
quadriceps femoris	UBERON:0001377	97.73	gold quality
vastus lateralis	UBERON:0001379	97.69	gold quality
oviduct epithelium	UBERON:0004804	97.52	gold quality
tibialis anterior	UBERON:0001385	97.33	gold quality
biceps brachii	UBERON:0001507	96.97	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	96.83	gold quality
pancreatic ductal cell	CL:0002079	96.80	gold quality
cartilage tissue	UBERON:0002418	96.76	gold quality
upper arm skin	UBERON:0004263	96.37	gold quality
skeletal muscle tissue	UBERON:0001134	95.82	gold quality
palpebral conjunctiva	UBERON:0001812	95.45	gold quality
upper leg skin	UBERON:0004262	95.38	gold quality
skin of hip	UBERON:0001554	95.28	gold quality
gingival epithelium	UBERON:0001949	94.89	gold quality
visceral pleura	UBERON:0002401	94.65	gold quality
gingiva	UBERON:0001828	94.61	gold quality
esophagus squamous epithelium	UBERON:0006920	94.53	gold quality
secondary oocyte	CL:0000655	94.48	gold quality
amniotic fluid	UBERON:0000173	94.42	gold quality
tibia	UBERON:0000979	93.74	gold quality
body of tongue	UBERON:0011876	93.64	gold quality
epithelium of nasopharynx	UBERON:0001951	93.43	gold quality
nasal cavity mucosa	UBERON:0001826	93.35	gold quality
muscle tissue	UBERON:0002385	93.35	gold quality
tongue	UBERON:0001723	93.25	gold quality
superior surface of tongue	UBERON:0007371	93.04	gold quality
monocyte	CL:0000576	93.01	gold quality
bronchial epithelial cell	CL:0002328	92.98	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-119	yes	5.57
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TP53

miRNA regulators (miRDB)

190 targeting RNF144B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-34C-5P	99.97	70.45	1577

Literature-anchored findings (GeneRIF, showing 10)

• p53RFP, a p53-inducible RING-finger protein, regulates the stability of p21WAF1. (PMID:12853982)
• IBRDC2, an IBR-type RING-finger E3 ubiquitin ligase, regulates the levels of Bax and protects cells from unprompted Bax. activation and cell death. (PMID:20300062)
• PIR2, by being induced by TAp73 and degrading DeltaNp73, differentially regulates TAp73/DeltaNp73 stability. (PMID:20615966)
• PIR2/RNF144B/IBRDC2 regulates the stability of TAp73 and DNp73. (PMID:20615966)
• findings substantiate PIR2/Rnf144b as a potentially critical component of epithelial homeostasis, acting downstream of DeltaNp63alpha to regulate cellular levels of p21(WAF1/CIP1) and DeltaNp63alpha (PMID:23128396)
• Low RNF144B expression is associated with gastric cancer. (PMID:27524417)
• Inactivation of GSK3beta activity is associated with loss of PIR2 protein and consequent inhibition of cell proliferation in endometrial cancer cells. (PMID:29724995)
• Our study identifies that RNF144B interaction with TBK1 is sufficient to inactivate TBK1 and delineates a previously unrecognized role for RNF144B in innate immune responses. (PMID:31509299)
• RNF144B stimulates the proliferation and inhibits the apoptosis of human spermatogonial stem cells via the FCER2/NOTCH2/HES1 pathway and its abnormality is associated with azoospermia. (PMID:35699595)
• The TP53-activated E3 ligase RNF144B is a tumour suppressor that prevents genomic instability. (PMID:38685100)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rnf144b	ENSDARG00000024940
mus_musculus	Rnf144b	ENSMUSG00000038068
rattus_norvegicus	Rnf144b	ENSRNOG00000016123
caenorhabditis_elegans		WBGENE00015926
caenorhabditis_elegans		WBGENE00021721

Paralogs (9): ANKIB1 (ENSG00000001629), RNF14 (ENSG00000013561), RNF19A (ENSG00000034677), RNF19B (ENSG00000116514), RNF217 (ENSG00000146373), RNF144A (ENSG00000151692), ARIH1 (ENSG00000166233), ARIH2 (ENSG00000177479), PRKN (ENSG00000185345)

Protein

Protein identifiers

E3 ubiquitin-protein ligase RNF144B — Q7Z419 (reviewed: Q7Z419)

Alternative names: IBR domain-containing protein 2, RING finger protein 144B, p53-inducible RING finger protein

All UniProt accessions (1): Q7Z419

UniProt curated annotations — full annotation on UniProt →

Function. E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates such as LCMT2, thereby promoting their degradation. Induces apoptosis via a p53/TP53-dependent but caspase-independent mechanism. Plays a crucial role in maintaining the genomic stability by controlling the degradation of multiple proteins involved in mitotic progression and DNA damage. Regulates epithelial homeostasis by mediating degradation of CDKN1A and isoform 2 of TP63. Plays a regulatory role in innate immunity by negatively regulating IRF3 activation and IFN-beta production. Mechanistically, inhibits TBK1 phosphorylation and ‘Lys-63’-linked polyubiquitination independently of its E3 ligase activity. Alternatively, promotes ‘Lys-27’ and ‘Lys-33’-linked ubiquitination of IFIH1/MDA5, promoting selective autophagic degradation of IFIH1/MDA5 to inhibit antiviral response.

Subunit / interactions. Interacts with UBE2L3, UBE2L6 and LCMT2, as well as with BAX. Interacts with TBK1; this interaction inhibits TBK1 phosphorylation and ‘Lys-63’-linked polyubiquitination.

Subcellular location. Mitochondrion membrane. Cytoplasm.

Tissue specificity. Broadly expressed, with lowest levels in brain and thymus, and highest levels detectable in heart, ovary and testis.

Post-translational modifications. Auto-ubiquitinated.

Domain organisation. The RING-type zinc finger domain mediates binding to an E2 ubiquitin-conjugating enzyme. The transmembrane domain is essential for translocation to the mitochondria upon induction of apoptosis. Members of the RBR family are atypical E3 ligases. They interact with the E2 conjugating enzyme UBE2L3 and function like HECT-type E3 enzymes: they bind E2s via the first RING domain, but require an obligate trans-thiolation step during the ubiquitin transfer, requiring a conserved cysteine residue in the second RING domain.

Induction. Transcriptionally by TP53 or TP63. By LPS.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the RBR family. RNF144 subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q7Z419-1	1	yes
Q7Z419-2	2

RefSeq proteins (1): NP_877434* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001841	Znf_RING	Domain
IPR002867	IBR_dom	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR017907	Znf_RING_CS	Conserved_site
IPR031127	E3_UB_ligase_RBR	Family
IPR044066	TRIAD_supradom	Domain

Pfam: PF01485, PF22191

UniProt features (35 total): binding site 20, mutagenesis site 4, zinc finger region 3, splice variant 2, sequence conflict 2, chain 1, transmembrane region 1, region of interest 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z419-F1	82.64	0.48

Functional residue map

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

Catalytic / active sites (1): 206

Ligand- & substrate-binding residues (20): 56; 121; 126; 145; 148; 153; 156; 161; 166; 193; 196; 211 …

Mutagenesis-validated functional residues (4):

Position	Phenotype
48	strong loss of ifih1/mda5 ubiquitination.
80	strong loss of ifih1/mda5 ubiquitination.
206	no loss in inhibitory effects on tbk1-induced ifn-beta promoter activity.
219	strong loss of ifih1/mda5 ubiquitination.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation

MSigDB gene sets: 235 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, SHEPARD_BMYB_MORPHOLINO_UP, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, RORA1_01, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_UP, COUP_01, AP1_Q4_01

GO Biological Process (4): ubiquitin-dependent protein catabolic process (GO:0006511), apoptotic process (GO:0006915), protein ubiquitination (GO:0016567), negative regulation of apoptotic process (GO:0043066)

GO Molecular Function (7): ubiquitin-protein transferase activity (GO:0004842), zinc ion binding (GO:0008270), ubiquitin conjugating enzyme binding (GO:0031624), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (7): ubiquitin ligase complex (GO:0000151), cytoplasm (GO:0005737), cytosol (GO:0005829), mitochondrial membrane (GO:0031966), mitochondrion (GO:0005739), membrane (GO:0016020), organelle membrane (GO:0031090)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Class I MHC mediated antigen processing & presentation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cytoplasm	2
protein ubiquitination	1
modification-dependent protein catabolic process	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
protein modification by small protein conjugation	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
ubiquitin-like protein transferase activity	1
transition metal ion binding	1
ubiquitin-like protein conjugating enzyme binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
binding	1
catalytic activity	1
cation binding	1
intracellular protein-containing complex	1
transferase complex	1
intracellular anatomical structure	1
mitochondrion	1
mitochondrial envelope	1
organelle membrane	1
intracellular membrane-bounded organelle	1
membrane	1
membrane-bounded organelle	1

Protein interactions and networks

STRING

612 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RNF144B	DUSP11	O75319	729
RNF144B	RCHY1	Q96PM5	599
RNF144B	TRAF3	Q13114	510
RNF144B	RBM43	Q6ZSC3	466
RNF144B	RNF223	E7ERA6	439
RNF144B	RNF216	Q9NWF9	437
RNF144B	FBXO7	Q9Y3I1	432
RNF144B	FBXW7	Q969H0	429
RNF144B	RNF183	Q96D59	427
RNF144B	MTREX	P42285	414
RNF144B	RNFT2	Q96EX2	390
RNF144B	RNFT1	Q5M7Z0	385
RNF144B	MARCHF5	Q9NX47	373
RNF144B	TOP2A	P11388	371
RNF144B	SOCS3	O14543	355

IntAct

28 interactions, top by confidence:

A	B	Type	Score
RNF144B	UBE2L6	psi-mi:“MI:0915”(physical association)	0.680
UBE2L6	RNF144B	psi-mi:“MI:0915”(physical association)	0.680
RNF144B	BAX	psi-mi:“MI:0403”(colocalization)	0.560
BAX	RNF144B	psi-mi:“MI:0915”(physical association)	0.560
UBE2U	RNF144B	psi-mi:“MI:0915”(physical association)	0.550
RNF144B	TP73	psi-mi:“MI:0915”(physical association)	0.400
RNF144B	UBE2Z	psi-mi:“MI:0915”(physical association)	0.370
RNF144B	UBE2L3	psi-mi:“MI:0915”(physical association)	0.370
UBE2I	RNF144B	psi-mi:“MI:0915”(physical association)	0.370
RNF144B	UBE2T	psi-mi:“MI:0915”(physical association)	0.370
PB2		psi-mi:“MI:0914”(association)	0.350
CYCS	RNF144B	psi-mi:“MI:0403”(colocalization)	0.270
RNF144B	TOMM20	psi-mi:“MI:0403”(colocalization)	0.270
TOMM20	RNF144B	psi-mi:“MI:0403”(colocalization)	0.270

BioGRID (53): TP63 (Affinity Capture-Western), RNF144B (Affinity Capture-RNA), RNF144B (Affinity Capture-RNA), RNF144B (Affinity Capture-RNA), UBC (Biochemical Activity), RNF144B (Two-hybrid), RNF144B (Two-hybrid), RNF144B (Two-hybrid), RNF144B (Two-hybrid), RNF144B (Two-hybrid), RNF144B (Two-hybrid), RNF144B (Two-hybrid), CREB5 (Two-hybrid), RIPPLY1 (Two-hybrid), VENTX (Two-hybrid)

ESM2 similar proteins: A0A8J1LLF7, A0A974H8H3, A0MQH0, A4FUF0, A4IIY1, A5PK27, P09851, P15209, P20936, P24786, P42694, P50876, P50904, Q03351, Q09LZ8, Q16288, Q16620, Q25BN1, Q49A26, Q4KLT0, Q4R5H6, Q4V8I4, Q5F415, Q5IFJ9, Q5IS37, Q5IS82, Q5R7T2, Q5R8I6, Q5RES2, Q5RFV4, Q5RKH0, Q5RKN4, Q5XIC4, Q6DFV5, Q6DH94, Q6NW85, Q6PC62, Q6TUI4, Q6VNS1, Q7Z419

Diamond homologs: A2VEA3, A5PK27, B1H1E4, O01965, O76924, O95376, P0C8K8, P36113, P50876, Q22431, Q32NS4, Q54CX4, Q5UQ35, Q6NW85, Q6PFJ9, Q6T486, Q7Z419, Q84RQ8, Q84RR0, Q84RR2, Q8BKD6, Q8L829, Q8W468, Q925F3, Q94981, Q949V6, Q9C5A4, Q9LVW9, Q9LVX0, Q9P3U4, Q9SKC2, Q9SKC3, Q9SKC4, Q9Y4X5, Q9Z1K5, Q9Z1K6, A4IIY1, Q5RFV4, Q6DH94, A2A7Q9

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	RNF144B	ubiquitination
RNF144B	“down-regulates quantity by destabilization”	CDKN1A	ubiquitination
RNF144B	“down-regulates quantity by destabilization”	NPM1	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	40
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1272 predictions. Top by Δscore:

Variant	Effect	Δscore
6:18399673:G:GT	donor_gain	1.0000
6:18399674:A:T	donor_gain	1.0000
6:18399695:CAGCT:C	donor_gain	1.0000
6:18399697:GCT:G	donor_gain	1.0000
6:18399700:G:GG	donor_gain	1.0000
6:18427681:CTGAG:C	donor_loss	1.0000
6:18427682:TGAG:T	donor_loss	1.0000
6:18427683:GAGGT:G	donor_loss	1.0000
6:18427684:AGGT:A	donor_loss	1.0000
6:18427685:GGTAT:G	donor_loss	1.0000
6:18427686:GT:G	donor_loss	1.0000
6:18427687:T:A	donor_loss	1.0000
6:18459605:A:AG	acceptor_gain	1.0000
6:18459606:G:GG	acceptor_gain	1.0000
6:18459606:GA:G	acceptor_gain	1.0000
6:18459748:GGAT:G	donor_gain	1.0000
6:18459749:GAT:G	donor_gain	1.0000
6:18459749:GATG:G	donor_gain	1.0000
6:18459752:G:GG	donor_gain	1.0000
6:18387627:CCAG:C	donor_loss	0.9900
6:18387628:CAG:C	donor_loss	0.9900
6:18387630:GGT:G	donor_loss	0.9900
6:18387632:T:A	donor_loss	0.9900
6:18399495:ATAG:A	acceptor_gain	0.9900
6:18399495:ATAGG:A	acceptor_gain	0.9900
6:18399497:AG:A	acceptor_gain	0.9900
6:18399497:AGG:A	acceptor_gain	0.9900
6:18399498:GG:G	acceptor_gain	0.9900
6:18399498:GGG:G	acceptor_gain	0.9900
6:18399696:AGCT:A	donor_gain	0.9900

AlphaMissense

1978 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:18459696:T:C	M209T	1.000
6:18459722:T:C	F218L	1.000
6:18459724:T:A	F218L	1.000
6:18459724:T:G	F218L	1.000
6:18459730:G:C	W220C	1.000
6:18459730:G:T	W220C	1.000
6:18399622:T:C	C30R	0.999
6:18457184:T:C	C121R	0.999
6:18459647:T:A	C193S	0.999
6:18459647:T:C	C193R	0.999
6:18459648:G:C	C193S	0.999
6:18459656:T:A	C196S	0.999
6:18459656:T:C	C196R	0.999
6:18459657:G:C	C196S	0.999
6:18459674:C:A	R202S	0.999
6:18459686:T:C	C206R	0.999
6:18459701:T:A	C211S	0.999
6:18459701:T:C	C211R	0.999
6:18459702:G:C	C211S	0.999
6:18459703:C:G	C211W	0.999
6:18459710:T:A	C214S	0.999
6:18459711:G:A	C214Y	0.999
6:18459711:G:C	C214S	0.999
6:18459723:T:C	F218S	0.999
6:18459723:T:G	F218C	0.999
6:18459725:T:A	C219S	0.999
6:18459725:T:C	C219R	0.999
6:18459726:G:A	C219Y	0.999
6:18459726:G:C	C219S	0.999
6:18459726:G:T	C219F	0.999

dbSNP variants (sampled 300 via entrez): RS1000021114 (6:18429960 G>A), RS1000045765 (6:18394827 C>G,T), RS1000048339 (6:18416087 G>C,T), RS1000052683 (6:18458052 C>G), RS1000096896 (6:18388637 C>T), RS1000108180 (6:18452079 G>T), RS1000114066 (6:18396429 G>A,C,T), RS1000147918 (6:18388134 G>T), RS1000154782 (6:18409398 A>C), RS1000162234 (6:18401104 A>G), RS1000184003 (6:18444431 C>G), RS1000191176 (6:18393709 T>C), RS1000249620 (6:18432570 G>A,C), RS1000328646 (6:18444991 A>T), RS1000515334 (6:18420455 G>T)

Disease associations

OMIM: gene MIM:618869 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

20 associations (top):

Study	Trait	p-value
GCST001894_9	Endometriosis	2.000000e-07
GCST003744_4	Chronic periodontitis (mean interproximal clinical attachment level)	3.000000e-07
GCST003841_4	Thiopurine S-methyltransferase activity	1.000000e-10
GCST003994_4	Age at voice drop	1.000000e-07
GCST006626_42	Pulse pressure	2.000000e-10
GCST007325_44	General risk tolerance (MTAG)	5.000000e-08
GCST007576_210	Chronotype	3.000000e-09
GCST007576_421	Chronotype	3.000000e-09
GCST008477_33	Emphysema annual change measurement in smokers (adjusted lung density)	4.000000e-06
GCST009178_4	Caudal middle frontal gyrus volume	9.000000e-06
GCST009464_35	Facial morphology	3.000000e-08
GCST010244_349	Triglyceride levels	4.000000e-08
GCST010796_1132	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-09
GCST010796_1133	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_1134	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_1135	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-08
GCST010796_1136	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-08
GCST010988_351	Adult body size	4.000000e-11
GCST90000025_519	Appendicular lean mass	5.000000e-09
GCST90006998_6	Gut microbiota relative abundance (Dorea)	4.000000e-06

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0007780	periodontal measurement
EFO:0007852	thiopurine methyltransferase activity measurement
EFO:0007888	age at voice drop
EFO:0005763	pulse pressure measurement
EFO:0008579	risk-taking behaviour
EFO:0008328	chronotype measurement
EFO:0007626	emphysema imaging measurement
EFO:0004530	triglyceride measurement
EFO:0004327	electrocardiography
EFO:0004980	appendicular lean mass
EFO:0007874	gut microbiome measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Estradiol	affects binding, increases expression, affects cotreatment, decreases expression	6
Valproic Acid	affects cotreatment, increases expression	4
sodium arsenite	decreases expression, affects cotreatment, increases abundance	3
bisphenol A	decreases methylation, decreases expression, affects cotreatment	2
potassium chromate(VI)	affects cotreatment, decreases expression, increases expression	2
mercuric bromide	increases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
belinostat	increases expression, affects cotreatment	2
Leflunomide	increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Acetaminophen	increases expression, decreases expression	2
Benzo(a)pyrene	decreases methylation, decreases expression	2
Doxorubicin	affects expression, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
aristolochic acid I	decreases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
arsenite	affects binding, decreases reaction	1
sulforaphane	decreases expression	1
cobaltous chloride	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
ochratoxin A	decreases expression	1
ferrous chloride	decreases expression	1
triadimefon	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
benzyloxycarbonylleucyl-leucyl-leucine aldehyde	decreases degradation, decreases reaction, increases degradation	1
chromium hexavalent ion	affects expression	1

Clinical trials (associated diseases)

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