FETUB
gene geneOn this page
Summary
FETUB (fetuin B, HGNC:3658) is a protein-coding gene on chromosome 3q27.3, encoding Fetuin-B (Q9UGM5). Protease inhibitor required for egg fertilization.
The protein encoded by this gene is a member of the fetuin family, part of the cystatin superfamily of cysteine protease inhibitors. Fetuins have been implicated in several diverse functions, including osteogenesis and bone resorption, regulation of the insulin and hepatocyte growth factor receptors, and response to systemic inflammation. This protein may be secreted by cells.
Source: NCBI Gene 26998 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 74 total
- MANE Select transcript:
NM_014375
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3658 |
| Approved symbol | FETUB |
| Name | fetuin B |
| Location | 3q27.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000090512 |
| Ensembl biotype | protein_coding |
| OMIM | 605954 |
| Entrez | 26998 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 14 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000265029, ENST00000382134, ENST00000382136, ENST00000420570, ENST00000431018, ENST00000435961, ENST00000450521, ENST00000488561, ENST00000898652, ENST00000898653, ENST00000898654, ENST00000898655, ENST00000898656, ENST00000898657, ENST00000898658, ENST00000898659, ENST00000898660
RefSeq mRNA: 9 — MANE Select: NM_014375
NM_001308077, NM_001308079, NM_001375587, NM_001375588, NM_001375589, NM_001375590, NM_001375591, NM_001375592, NM_014375
CCDS: CCDS3279, CCDS77871, CCDS82884
Canonical transcript exons
ENST00000265029 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001140642 | 186640399 | 186640685 |
| ENSE00001177785 | 186652263 | 186653141 |
| ENSE00003554385 | 186651218 | 186651301 |
| ENSE00003586111 | 186641030 | 186641140 |
| ENSE00003622550 | 186644751 | 186644920 |
| ENSE00003623640 | 186642471 | 186642558 |
| ENSE00003676295 | 186646248 | 186646349 |
Expression profiles
Bgee: expression breadth ubiquitous, 102 present calls, max score 95.17.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.6773 / max 285.5796, expressed in 41 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 40283 | 0.4961 | 24 |
| 40280 | 0.0781 | 16 |
| 40284 | 0.0698 | 14 |
| 40281 | 0.0179 | 5 |
| 40285 | 0.0119 | 5 |
| 40282 | 0.0035 | 2 |
Top tissues by expression
272 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 95.17 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 94.12 | gold quality |
| liver | UBERON:0002107 | 91.82 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 79.06 | gold quality |
| skin of abdomen | UBERON:0001416 | 69.06 | gold quality |
| skin of leg | UBERON:0001511 | 68.94 | gold quality |
| frontal pole | UBERON:0002795 | 67.04 | gold quality |
| paraflocculus | UBERON:0005351 | 66.75 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 66.74 | gold quality |
| oral cavity | UBERON:0000167 | 66.44 | gold quality |
| esophagus mucosa | UBERON:0002469 | 66.39 | gold quality |
| zone of skin | UBERON:0000014 | 65.28 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 62.53 | gold quality |
| endometrium epithelium | UBERON:0004811 | 61.37 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 56.81 | gold quality |
| cerebellar vermis | UBERON:0004720 | 56.27 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 56.27 | silver quality |
| penis | UBERON:0000989 | 55.89 | gold quality |
| vagina | UBERON:0000996 | 54.02 | gold quality |
| rectum | UBERON:0001052 | 52.82 | gold quality |
| thymus | UBERON:0002370 | 52.55 | gold quality |
| quadriceps femoris | UBERON:0001377 | 51.57 | gold quality |
| vastus lateralis | UBERON:0001379 | 51.04 | gold quality |
| metanephros | UBERON:0000081 | 50.32 | gold quality |
| hair follicle | UBERON:0002073 | 50.23 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 49.30 | gold quality |
| blood vessel layer | UBERON:0004797 | 49.29 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 49.20 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 48.99 | gold quality |
| olfactory bulb | UBERON:0002264 | 48.92 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 2.78 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NR1H4
miRNA regulators (miRDB)
13 targeting FETUB, 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-6499-3P | 99.90 | 66.38 | 1212 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-4663 | 99.62 | 65.33 | 957 |
| HSA-MIR-5584-5P | 99.49 | 68.22 | 2814 |
| HSA-MIR-4291 | 99.20 | 68.88 | 2969 |
| HSA-MIR-8077 | 99.17 | 66.67 | 862 |
| HSA-MIR-7160-5P | 99.11 | 67.17 | 2207 |
| HSA-MIR-4266 | 98.53 | 67.29 | 1035 |
| HSA-MIR-93-3P | 98.15 | 66.65 | 1309 |
| HSA-MIR-4660 | 97.79 | 67.44 | 1328 |
| HSA-MIR-4786-5P | 97.45 | 67.89 | 924 |
| HSA-MIR-873-3P | 96.84 | 66.09 | 786 |
| HSA-MIR-1281 | 92.96 | 65.73 | 260 |
Literature-anchored findings (GeneRIF, showing 23)
- serum fetuin has a role in processing and transport of matrix gamma-carboxyglutamic acid protein and bone morphogenetic protein-2 in cultured human vascular smooth muscle cells (PMID:15280384)
- results support the hypothesis that fetuin-A serum levels are associated with bone cell activity (PMID:16797392)
- Reduced expression of fetuin-b led to a significant increase in the expression of lipogenic genes, thereby resulting in higher lipid levels. (PMID:22739111)
- Data indicate that fetuin-B was one of the highly expressed serum proteins in acute myocardial infarction. (PMID:25671698)
- serum level of fetuin B in the control subjects was lower than it in nonalcoholic fatty liver disease patients. fetuin B correlated with diastolic blood pressure, serum alanine transaminase and triglycerides, among the controls. It suggested a potential association between serum fetuin B and the presence of NAFLD. (PMID:27628583)
- Further studies need to elucidate factors contributing to fetuin B regulation in humans, as well as the pathophysiological significance of fetuin B upregulation in gestational diabetes (PMID:28183456)
- fetuin B may serve as a potential biomarker for coronary artery disease (PMID:28822077)
- Fetuin-A can alter insulin signaling and that fetuin-B may regulate glucose homeostasis via so far unknown effects, possibly on glucose effectiveness. (PMID:29138227)
- Fetuin B serum concentrations are not significantly different between patients with lipodystrophy (LD) and non-LD controls. (PMID:29153939)
- High Serum fetuin-B expression is associated with insulin resistance. (PMID:29194974)
- Increased serum fetuin-B level was significantly associated with higher risk of insulin resistance. Common genetic variants of FETUB SNPs (rs4686434, rs6785067, and rs3733159) were significantly associated with serum fetuin-B concentrations but were not associated with insulin resistance. (PMID:29390354)
- Patients with type 2 diabetes have significantly higher concentrations of plasma fetuin-B compared with normal glucose tolerance subjects and plasma fetuin-B is strongly associated with glucose and lipid metabolism, chronic inflammation and first-phase glucose-stimulated insulin secretion and insulin resistance. (PMID:29514765)
- Fetuin-B links nonalcoholic fatty liver disease (NAFLD) to type 2 diabetes (T2D) via inducing insulin resistance, and NAFLD contributes to the pathogenesis of T2D via multiple mechanisms. (PMID:29609136)
- Carrying the minor G allele for FETUB rs4686434 was significantly associated with decreased intrahepatic triglyceride content and may affect hepatic triglyceride accumulation in individuals at high risk of non-alcoholic fatty liver disease. (PMID:29671945)
- High Fetuin B expression is associated with vitamin D deficiency and pediatric obesity. (PMID:29684480)
- Serum fetuin-B level is an independent marker for nonalcoholic fatty liver disease in patients with type 2 diabetes. (PMID:30601337)
- Serum fetuin-B level is correlated with fertilization rate in conventional IVF and it may be used as a predictive marker of fertilization in IVF treatment. (PMID:31073723)
- Association of Fetuin-B with Subclinical Atherosclerosis in Obese Chinese Adults. (PMID:31527322)
- The C-terminal region of human plasma fetuin-B is dispensable for the raised-elephant-trunk mechanism of inhibition of astacin metallopeptidases. (PMID:31604990)
- Fetuin-B regulates vascular plaque rupture via TGF-beta receptor-mediated Smad pathway in vascular smooth muscle cells. (PMID:32382986)
- Fetuin B overexpression suppresses proliferation, migration, and invasion in prostate cancer by inhibiting the PI3K/AKT signaling pathway. (PMID:32892030)
- Hepatokine Fetuin B expression is regulated by leptin-STAT3 signalling and associated with leptin in obesity. (PMID:35896788)
- Fetuin-B Overexpression Promotes Inflammation in Diabetic Retinopathy Through Activating Microglia and the NF-kappaB Signaling Pathway. (PMID:37883127)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fetub | ENSDARG00000053973 |
| danio_rerio | si:ch211-284e20.8 | ENSDARG00000070918 |
| mus_musculus | Fetub | ENSMUSG00000022871 |
| rattus_norvegicus | Fetub | ENSRNOG00000001806 |
Paralogs (3): KNG1 (ENSG00000113889), HRG (ENSG00000113905), AHSG (ENSG00000145192)
Protein
Protein identifiers
Fetuin-B — Q9UGM5 (reviewed: Q9UGM5)
Alternative names: 16G2, Fetuin-like protein IRL685, Gugu
All UniProt accessions (5): Q9UGM5, C9JC68, E9PG08, F8WAW1, F8WEP7
UniProt curated annotations — full annotation on UniProt →
Function. Protease inhibitor required for egg fertilization. Required to prevent premature zona pellucida hardening before fertilization, probably by inhibiting the protease activity of ASTL, a protease that mediates the cleavage of ZP2 and triggers zona pellucida hardening.
Subcellular location. Secreted.
Tissue specificity. Liver and testis.
Similarity. Belongs to the fetuin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UGM5-1 | 1 | yes |
| Q9UGM5-2 | 2, Beta |
RefSeq proteins (9): NP_001295006, NP_001295008, NP_001362516, NP_001362517, NP_001362518, NP_001362519, NP_001362520, NP_001362521, NP_055190* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000010 | Cystatin_dom | Domain |
| IPR001363 | Prot_inh_fetuin_CS | Conserved_site |
| IPR025764 | Cystatin_Fetuin_B | Domain |
| IPR046350 | Cystatin_sf | Homologous_superfamily |
| IPR050735 | Kininogen_Fetuin_HRG | Family |
Pfam: PF00031
UniProt features (54 total): strand 16, helix 8, glycosylation site 5, disulfide bond 5, sequence conflict 5, sequence variant 3, compositionally biased region 3, domain 2, region of interest 2, signal peptide 1, chain 1, splice variant 1, turn 1, modified residue 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7UAI | ELECTRON MICROSCOPY | 2.8 |
| 6SAZ | X-RAY DIFFRACTION | 3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UGM5-F1 | 81.92 | 0.59 |
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 (1): 315
Disulfide bonds (5): 93–104, 117–137, 151–154, 216–224, 237–254
Glycosylation sites (5): 37, 136, 182, 289, 292
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 102 (showing top):
GOBP_SINGLE_FERTILIZATION, GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, GOBP_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY, GNF2_HPN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_REGULATION_OF_HYDROLASE_ACTIVITY, GNF2_LCAT, GOBP_SPERM_EGG_RECOGNITION, CAIRO_HEPATOBLASTOMA_DN, MODULE_99, GOBP_REGULATION_OF_PEPTIDASE_ACTIVITY, GOBP_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION, GOBP_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS
GO Biological Process (4): single fertilization (GO:0007338), binding of sperm to zona pellucida (GO:0007339), negative regulation of endopeptidase activity (GO:0010951), regulation of macromolecule metabolic process (GO:0060255)
GO Molecular Function (5): cysteine-type endopeptidase inhibitor activity (GO:0004869), metalloendopeptidase inhibitor activity (GO:0008191), enzyme inhibitor activity (GO:0004857), protein binding (GO:0005515), peptidase inhibitor activity (GO:0030414)
GO Cellular Component (3): extracellular region (GO:0005576), extracellular exosome (GO:0070062), obsolete extracellular space (GO:0005615)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| endopeptidase inhibitor activity | 2 |
| fertilization | 1 |
| sperm-egg recognition | 1 |
| endopeptidase activity | 1 |
| negative regulation of peptidase activity | 1 |
| regulation of endopeptidase activity | 1 |
| regulation of metabolic process | 1 |
| macromolecule metabolic process | 1 |
| cysteine-type endopeptidase activity | 1 |
| metalloendopeptidase activity | 1 |
| catalytic activity | 1 |
| enzyme regulator activity | 1 |
| molecular function inhibitor activity | 1 |
| binding | 1 |
| enzyme inhibitor activity | 1 |
| peptidase activity | 1 |
| peptidase regulator activity | 1 |
| cellular anatomical structure | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
938 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FETUB | ASTL | Q6HA08 | 701 |
| FETUB | ORM2 | P19652 | 597 |
| FETUB | ORM1 | P02763 | 581 |
| FETUB | AHSG | P02765 | 570 |
| FETUB | AGA | P20933 | 560 |
| FETUB | EEA1 | Q15075 | 549 |
| FETUB | MSR1 | P21757 | 547 |
| FETUB | CETP | P11597 | 516 |
| FETUB | COL1A2 | P02464 | 503 |
| FETUB | ALB | P02768 | 498 |
| FETUB | SERPINA7 | P05543 | 496 |
| FETUB | KLK3 | P07288 | 492 |
| FETUB | GGCT | O75223 | 431 |
| FETUB | RAB5A | P20339 | 425 |
| FETUB | FAM151A | Q8WW52 | 421 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FETUB | HSD17B13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FETUB | DARS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CREB3L1 | FETUB | psi-mi:“MI:0915”(physical association) | 0.560 |
| HSD17B13 | FETUB | psi-mi:“MI:0915”(physical association) | 0.560 |
| MTIF3 | FETUB | psi-mi:“MI:0915”(physical association) | 0.560 |
| FETUB | ERGIC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EBP | FETUB | psi-mi:“MI:0915”(physical association) | 0.560 |
| DARS2 | FETUB | psi-mi:“MI:0915”(physical association) | 0.560 |
| FETUB | CREB3L1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| FETUB | MTIF3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| FETUB | ERGIC3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| FETUB | EBP | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (10): FETUB (Two-hybrid), FETUB (Synthetic Lethality), DARS2 (Two-hybrid), MTIF3 (Two-hybrid), ERGIC3 (Two-hybrid), EBP (Two-hybrid), CREB3L1 (Two-hybrid), HSD17B13 (Two-hybrid), RAB14 (Cross-Linking-MS (XL-MS)), FETUB (Reconstituted Complex)
ESM2 similar proteins: A0A1S3PBB7, B6S2X0, O08677, O70159, P01042, P01044, P01045, P01048, P02765, P08932, P08934, P12763, P24090, P25230, P29695, P29699, P29700, P29701, P33046, P49928, P49929, P49931, P51437, P54229, P80191, P97515, Q1KLX0, Q1KLX3, Q1KLX5, Q1KLX6, Q1KLX7, Q1KLX9, Q1KLY0, Q1KLY2, Q1KLY4, Q1KLY6, Q1KLY7, Q1KLY8, Q58D62, Q5KQS1
Diamond homologs: A0A0K0IP23, G5ECM9, G5EDZ9, O08677, P01048, P08932, P08934, P22085, P31726, P90698, Q6QZV5, Q9LEI7, Q9UGM5, P04196, P33433, Q28640, Q58D62, Q99PS8, Q9ESB3, A0A1S3PBB7, O76096, O89098, P01042, P01044, P01045, Q15828, O70159, P02765, P12763, P24090, P29695, P29699, P29700, P29701, P80191, P97515, Q5KQS1, Q5KQS2, Q5KQS3, Q5KQS4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
74 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 54 |
| Likely benign | 7 |
| Benign | 7 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1538 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:186651217:GCCT:G | acceptor_gain | 1.0000 |
| 3:186636229:G:GG | donor_gain | 0.9900 |
| 3:186640674:GAA:G | donor_gain | 0.9900 |
| 3:186640690:G:GG | donor_gain | 0.9900 |
| 3:186641141:G:GG | donor_gain | 0.9900 |
| 3:186644749:A:AG | acceptor_gain | 0.9900 |
| 3:186644750:G:GG | acceptor_gain | 0.9900 |
| 3:186646246:AGTG:A | acceptor_gain | 0.9900 |
| 3:186646247:GTGG:G | acceptor_gain | 0.9900 |
| 3:186650627:A:AG | acceptor_gain | 0.9900 |
| 3:186650628:G:GG | acceptor_gain | 0.9900 |
| 3:186651213:TTTA:T | acceptor_loss | 0.9900 |
| 3:186651215:TA:T | acceptor_loss | 0.9900 |
| 3:186651216:A:AC | acceptor_loss | 0.9900 |
| 3:186651216:A:AG | acceptor_gain | 0.9900 |
| 3:186651216:AGCCT:A | acceptor_gain | 0.9900 |
| 3:186651217:G:GG | acceptor_gain | 0.9900 |
| 3:186651217:GC:G | acceptor_gain | 0.9900 |
| 3:186651217:GCCTG:G | acceptor_gain | 0.9900 |
| 3:186651297:CACAG:C | donor_loss | 0.9900 |
| 3:186651298:ACAGG:A | donor_loss | 0.9900 |
| 3:186651299:CAG:C | donor_loss | 0.9900 |
| 3:186651300:AGG:A | donor_loss | 0.9900 |
| 3:186651301:GGT:G | donor_loss | 0.9900 |
| 3:186651303:T:G | donor_loss | 0.9900 |
| 3:186640458:A:AG | acceptor_gain | 0.9800 |
| 3:186640458:AGAAT:A | acceptor_gain | 0.9800 |
| 3:186640459:G:GG | acceptor_gain | 0.9800 |
| 3:186640459:GAATG:G | acceptor_gain | 0.9800 |
| 3:186640675:A:T | donor_gain | 0.9800 |
AlphaMissense
2469 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:186642483:T:A | C117S | 0.980 |
| 3:186642484:G:C | C117S | 0.980 |
| 3:186640657:G:C | R66P | 0.967 |
| 3:186642543:T:A | C137S | 0.966 |
| 3:186642544:G:C | C137S | 0.966 |
| 3:186651230:T:A | C237S | 0.964 |
| 3:186651231:G:C | C237S | 0.964 |
| 3:186652554:T:C | F358L | 0.955 |
| 3:186652556:C:A | F358L | 0.955 |
| 3:186652556:C:G | F358L | 0.955 |
| 3:186640566:T:A | C36S | 0.953 |
| 3:186640567:G:C | C36S | 0.953 |
| 3:186640619:C:A | N53K | 0.951 |
| 3:186640619:C:G | N53K | 0.951 |
| 3:186652584:T:A | C368S | 0.948 |
| 3:186652585:G:C | C368S | 0.948 |
| 3:186642483:T:C | C117R | 0.946 |
| 3:186651281:T:A | C254S | 0.944 |
| 3:186651282:G:C | C254S | 0.944 |
| 3:186642544:G:A | C137Y | 0.943 |
| 3:186646278:T:G | Y209D | 0.943 |
| 3:186642545:T:G | C137W | 0.942 |
| 3:186642543:T:C | C137R | 0.941 |
| 3:186646279:A:C | Y209S | 0.941 |
| 3:186644846:T:C | S174P | 0.940 |
| 3:186642484:G:A | C117Y | 0.936 |
| 3:186642485:C:G | C117W | 0.934 |
| 3:186641055:T:C | L84P | 0.930 |
| 3:186642489:G:C | A119P | 0.927 |
| 3:186646278:T:C | Y209H | 0.927 |
dbSNP variants (sampled 300 via entrez): RS1000123933 (3:186639445 T>A), RS1000456445 (3:186638650 T>C), RS1000745700 (3:186647708 A>G), RS1000755221 (3:186641944 G>A,C), RS1000878979 (3:186653590 C>T), RS1000927591 (3:186644270 C>T), RS1001232522 (3:186651745 A>C), RS1001546915 (3:186641751 A>G), RS1001730324 (3:186641766 G>A), RS1001801090 (3:186636039 C>T), RS1001997829 (3:186653228 A>C), RS1002101356 (3:186635784 T>C), RS1002666818 (3:186650625 G>A), RS1002769630 (3:186646145 T>C), RS1003092670 (3:186650905 C>A)
Disease associations
OMIM: gene MIM:605954 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001574_5 | Activated partial thromboplastin time | 1.000000e-111 |
| GCST008478_16 | Neurological blood protein biomarker levels | 2.000000e-11 |
| GCST010796_2394 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-08 |
| GCST010796_2395 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-08 |
| GCST010796_2396 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4.000000e-08 |
| GCST010796_2397 | Electrocardiogram morphology (amplitude at temporal datapoints) | 5.000000e-08 |
| GCST010796_2398 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004327 | electrocardiography |
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.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Acetaminophen | decreases expression | 3 |
| Benzo(a)pyrene | affects methylation, decreases expression, increases methylation | 3 |
| Aflatoxin B1 | decreases methylation, affects expression, decreases expression | 3 |
| Cyclosporine | decreases expression, affects cotreatment, affects expression | 2 |
| methyleugenol | decreases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| sodium arsenite | decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| obeticholic acid | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| Allergens | increases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Arsenicals | decreases expression | 1 |
| Chenodeoxycholic Acid | affects cotreatment, increases expression | 1 |
| Chlorpromazine | affects cotreatment, affects expression | 1 |
| Cholic Acids | affects cotreatment, affects expression | 1 |
| Deoxycholic Acid | affects cotreatment, increases expression | 1 |
| Estradiol | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Glycochenodeoxycholic Acid | affects cotreatment, increases expression | 1 |
| Glycocholic Acid | affects cotreatment, increases expression | 1 |
| Glycodeoxycholic Acid | increases expression, affects cotreatment | 1 |
| Methyltestosterone | affects expression, affects cotreatment | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Triclosan | affects cotreatment, increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.