TIMP4
gene geneOn this page
Summary
TIMP4 (TIMP metallopeptidase inhibitor 4, HGNC:11823) is a protein-coding gene on chromosome 3p25.2, encoding Metalloproteinase inhibitor 4 (Q99727). Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor.
This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. The secreted, netrin domain-containing protein encoded by this gene is involved in regulation of platelet aggregation and recruitment and may play role in hormonal regulation and endometrial tissue remodeling.
Source: NCBI Gene 7079 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 1 total
- MANE Select transcript:
NM_003256
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11823 |
| Approved symbol | TIMP4 |
| Name | TIMP metallopeptidase inhibitor 4 |
| Location | 3p25.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000157150 |
| Ensembl biotype | protein_coding |
| OMIM | 601915 |
| Entrez | 7079 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000287814, ENST00000946698
RefSeq mRNA: 1 — MANE Select: NM_003256
NM_003256
CCDS: CCDS2608
Canonical transcript exons
ENST00000287814 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001030687 | 12154327 | 12154451 |
| ENSE00001030688 | 12156820 | 12156934 |
| ENSE00001030689 | 12157385 | 12157482 |
| ENSE00001030692 | 12158702 | 12158912 |
| ENSE00001030693 | 12153068 | 12153712 |
Expression profiles
Bgee: expression breadth ubiquitous, 224 present calls, max score 98.25.
FANTOM5 (CAGE): breadth broad, TPM avg 4.9424 / max 378.3238, expressed in 699 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 41113 | 4.3321 | 649 |
| 41112 | 0.2318 | 103 |
| 41117 | 0.1959 | 95 |
| 41115 | 0.0678 | 20 |
| 41118 | 0.0498 | 29 |
| 41114 | 0.0331 | 10 |
| 41116 | 0.0318 | 11 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adipose tissue of abdominal region | UBERON:0007808 | 98.25 | gold quality |
| omental fat pad | UBERON:0010414 | 98.23 | gold quality |
| peritoneum | UBERON:0002358 | 98.08 | gold quality |
| adipose tissue | UBERON:0001013 | 97.57 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 96.85 | gold quality |
| connective tissue | UBERON:0002384 | 96.49 | gold quality |
| thoracic aorta | UBERON:0001515 | 93.31 | gold quality |
| left coronary artery | UBERON:0001626 | 93.23 | gold quality |
| ascending aorta | UBERON:0001496 | 93.14 | gold quality |
| apex of heart | UBERON:0002098 | 93.03 | gold quality |
| synovial joint | UBERON:0002217 | 92.74 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 92.64 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 92.51 | gold quality |
| coronary artery | UBERON:0001621 | 92.37 | gold quality |
| aorta | UBERON:0000947 | 91.80 | gold quality |
| cerebellar cortex | UBERON:0002129 | 91.76 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 91.75 | gold quality |
| cerebellum | UBERON:0002037 | 91.28 | gold quality |
| artery | UBERON:0001637 | 91.01 | gold quality |
| popliteal artery | UBERON:0002250 | 90.89 | gold quality |
| tibial artery | UBERON:0007610 | 90.85 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 90.06 | gold quality |
| heart left ventricle | UBERON:0002084 | 89.97 | gold quality |
| cardiac ventricle | UBERON:0002082 | 89.49 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 89.24 | gold quality |
| right atrium auricular region | UBERON:0006631 | 88.98 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 88.46 | gold quality |
| cardiac atrium | UBERON:0002081 | 87.61 | gold quality |
| heart | UBERON:0000948 | 87.47 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 87.30 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ESR1
miRNA regulators (miRDB)
25 targeting TIMP4, 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-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-10394-5P | 99.65 | 66.83 | 1852 |
| HSA-MIR-1205 | 99.65 | 66.76 | 1826 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-7515 | 99.31 | 68.22 | 1795 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-6868-5P | 99.06 | 65.69 | 1284 |
| HSA-MIR-3926 | 98.95 | 69.26 | 1438 |
| HSA-MIR-4764-5P | 98.88 | 65.53 | 894 |
| HSA-MIR-3194-3P | 98.83 | 66.22 | 1167 |
| HSA-MIR-887-5P | 98.82 | 65.90 | 1347 |
| HSA-MIR-4635 | 98.74 | 67.63 | 1339 |
| HSA-MIR-1237-3P | 98.55 | 67.65 | 1423 |
| HSA-MIR-6864-5P | 98.38 | 66.59 | 1079 |
| HSA-MIR-10226 | 98.25 | 66.50 | 811 |
| HSA-MIR-1322 | 97.98 | 68.96 | 625 |
| HSA-MIR-885-3P | 95.14 | 63.08 | 448 |
Literature-anchored findings (GeneRIF, showing 40)
- TIMP-4 overexpression is associated with joint tissue remodeling and pathogenesis of osteoarthritic cartilage (PMID:11948685)
- investigation of structural and functional differences between TIMP-4 and TIMP-2 by mutagenesis into C-terminal tails (PMID:12374789)
- TIMP-4 is the major intraplatelet matrix metalloproteinase inhibitor and it is involved in regulation of platelet aggregation and recruitment. (PMID:12466243)
- Progress curve analysis of MMP inhibition by TIMP-4 indicates that association rate constants and inhibition constants are similar to those for other TIMPs; TIMP-4 has a 5-fold lower binding affinity for proMMP-2 than does TIMP-2. (PMID:12475252)
- Peaks during the early to mid-luteal phase. Seems to play role in hormonal regulation and endometrial tissue remodeling. (PMID:12969699)
- MMP-26 was colocalized with MMP-9, TIMP-2, and TIMP-4 in breast cancer cells. (PMID:14744773)
- Results suggest a functional relationship between TIMP-4 mRNA and MMP-26 mRNA, and possibly a role in human implantation. (PMID:15273280)
- TIMP-4 displayed negligible activity against TACE, N-TIMP-4 is a slow tight-binding inhibitor with low nanomolar binding affinity (PMID:15713681)
- TIMP-4 is expressed de novo in cervical cancer (PMID:15816637)
- In conclusion, the data demonstrate upregulation of TIMP4 in human cardiovascular disorders exhibiting inflammation, suggesting its future use as a novel systemic marker for vascular inflammation. (PMID:16521002)
- Maximal expression of TIMP-4 in the early and mid-secretory phase suggests its role during implantation and results show that TIMP-4 control the the relaese of MMP-26 in both stroma and uterine fluid. (PMID:16809379)
- Results indicate that MMP-26 and TIMP-4 may play an integral role during the conversion of high-grade prostatic intraepithelial neoplasia to invasive cancer and may also serve as markers for early prostate cancer diagnosis. (PMID:16940965)
- Enzyme immunoassays showed the levels of type 4 tissue inhibitor of metalloproteinases were virtually the same in colorectal cancer and mucosa. (PMID:18214300)
- C/T polymorphism which is located on the 3’-untranslational regions of the TIMP-4 gene might be associated with susceptibility to Osteoarthritis in a Korean population (PMID:18301898)
- Peroxynitrite-induced nitration and oligomerization of TIMP-4 attenuated its inhibitory activity against MMP-2 activity and endothelial or tumor cell invasiveness. (PMID:18336787)
- An imbalance between TIMP-1 and TIMP-4 serum levels is present in inflammatory bowel disease (ulcerative colitis and Crohn’s disease) patients. (PMID:19036126)
- TIMP4 is related to the development of KD with CALs in Korean children. (PMID:19048177)
- a cardiopulmonary vasculature-specific role of TIMP-4 activation in systemic sclerosis. (PMID:19190762)
- MMP-3 and TIMP-4 polymorphisms affect angiographic coronary plaque progression in type 2 diabetic and non-diabetic patients (PMID:19376102)
- TIMP-4 as a simple prognostic marker that may help identify patients with early-stage breast cancer who could benefit from more aggressive treatment at diagnosis (PMID:19700750)
- Expressions of MMP1, MMP9, TIMP4, and EMMPRIN were significantly unbalanced in the myocardium of congestive heart failure patients with rheumatic heart diseases. (PMID:19734590)
- MMP-10 and -7 abundance increased, accompanied by decreased TIMP-4 in dilated cardiomyopathy failing hearts compared with non-failing hearts. (PMID:20219015)
- this work provides the first evidence of a TIMP-4/CD63 association in astrocytoma tumor cells (PMID:20693981)
- TIMP4 expression is a downstream target of GCM1 (PMID:21406447)
- A trend toward increased serum levels of MMP-9/TIMP-4 was found in patients with successful arteriovenous fistulas. (PMID:21620625)
- Plasma TIMP-4 has a role in the prediction of LV remodeling and the pathophysiology of the heart postinfarction (PMID:21624734)
- Heterogeneous methylation in the promoter region of TIMP4 was associated with cancer progression in non-small cell lung cancer. (PMID:22018271)
- The rs3755724 in TIMP4 protein was nominally associated with schizophrenia with poor concentration. (PMID:23229788)
- Selective myocardial targeting for TIMP-4 induction through either a viral or transgenic approach favorably altered the course of adverse left ventricular remodeling post-myocardial infarction. (PMID:24637197)
- Data show that gene polymorphisms of TIMP metallopeptidase inhibitors TIMP-3 -1296 T>C (rs9619311) and TIMP-4 -55 T>C (rs3755724) were associated with the susceptibility of hepatocellular carcinoma among Taiwan women. (PMID:24903383)
- No evidence was found for any associations between the TIMP-1,-2,-3, or -4 gene single nucleotide polymorphisms with unexplained recurrent spontaneous abortions in this Han Chinese Han population. (PMID:25128867)
- Expression levels of TIMP-1, TIMP-3 and TIMP-4 were negligible (<10% of cells) in primary spontaneous pneumothorax lesions. (PMID:25300296)
- This study provides evidence that the promoter TIMP4 rs3755724 is a new focal epilepsy susceptibility variant that is plausibly involved in inflammation-induced seizures in Malaysian Chinese. (PMID:25595263)
- ncreased TGFB1 expression and decreased TIMP-4 expression correlated with atrial fibrosis and extracellular matrix changes in the atria of rheumatic heart disease patients with atrial fibrillation. (PMID:25971370)
- Upregulation of plasma TIMP-4 might contribute to PIH [pregnancy-induced hypertension] processes (PMID:25986893)
- regulates carcinogenesis through apoptosis activation in cervical cancer cells (PMID:26291714)
- TIMP1, TIMP2, and TIMP4 are increased in aqueous humor from primary open angle glaucoma patients. (PMID:26539028)
- This report provides the first example that TIMP-4 regulates carcinogenesis through enriching the tumor progenitor cell population in cervical cancer cells. (PMID:26618609)
- Our findings provide new evidence that LOX regulates SNAI2 expression and that SNAI2-mediated TIMP4 secretion plays a role in cancer progression. (PMID:27029493)
- Study evaluated MMP-12 and TIMP-1, TIMP-2, TIMP-3, and TIMP-4 levels in 40 patients with asymptomatic and symptomatic critical carotid artery stenosis (CAS) with neurologic symptoms onset within the preceding 12 hours; results suggest that MMP-12 is related to critical CAS independently on symptoms, moreover, TIMP-3 and TIMP-4 seem to be specifically related to stroke (PMID:27746079)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | timp4.3 | ENSDARG00000100795 |
| danio_rerio | timp4.2 | ENSDARG00000102617 |
| danio_rerio | timp4.1 | ENSDARG00000111805 |
| mus_musculus | Timp4 | ENSMUSG00000030317 |
| rattus_norvegicus | Timp4 | ENSRNOG00000007955 |
Paralogs (3): TIMP2 (ENSG00000035862), TIMP3 (ENSG00000100234), TIMP1 (ENSG00000102265)
Protein
Protein identifiers
Metalloproteinase inhibitor 4 — Q99727 (reviewed: Q99727)
Alternative names: Tissue inhibitor of metalloproteinases 4
All UniProt accessions (1): Q99727
UniProt curated annotations — full annotation on UniProt →
Function. Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. Known to act on MMP-1, MMP-2, MMP-3, MMP-7 and MMP-9.
Subcellular location. Secreted.
Tissue specificity. Abundant in heart and present at low levels in many other tissues.
Similarity. Belongs to the protease inhibitor I35 (TIMP) family.
RefSeq proteins (1): NP_003247* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001134 | Netrin_domain | Domain |
| IPR001820 | TIMP | Family |
| IPR008993 | TIMP-like_OB-fold | Homologous_superfamily |
| IPR027465 | TIMP_C | Homologous_superfamily |
| IPR030490 | TIMP_CS | Conserved_site |
Pfam: PF00965
UniProt features (13 total): disulfide bond 6, region of interest 2, signal peptide 1, chain 1, domain 1, binding site 1, site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q99727-F1 | 88.36 | 0.78 |
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): 69 (involved in metalloproteinase-binding)
Ligand- & substrate-binding residues (1): 30
Disulfide bonds (6): 158–205, 163–168, 176–197, 30–102, 32–131, 42–156
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 147 (showing top):
GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, MODULE_255, GOBP_RESPONSE_TO_PEPTIDE, GOCC_SECRETORY_GRANULE, CMYB_01, BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, MODULE_317, SMID_BREAST_CANCER_RELAPSE_IN_LUNG_DN, CAGCTG_AP4_Q5, WOTTON_RUNX_TARGETS_UP, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, CHEN_LVAD_SUPPORT_OF_FAILING_HEART_UP, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_REGULATION_OF_MEMBRANE_PROTEIN_ECTODOMAIN_PROTEOLYSIS
GO Biological Process (4): Notch signaling pathway (GO:0007219), response to hormone (GO:0009725), response to cytokine (GO:0034097), negative regulation of membrane protein ectodomain proteolysis (GO:0051045)
GO Molecular Function (5): metalloendopeptidase inhibitor activity (GO:0008191), metal ion binding (GO:0046872), enzyme inhibitor activity (GO:0004857), protein binding (GO:0005515), peptidase inhibitor activity (GO:0030414)
GO Cellular Component (4): obsolete extracellular space (GO:0005615), extracellular matrix (GO:0031012), secretory granule lumen (GO:0034774), extracellular region (GO:0005576)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cell surface receptor signaling pathway | 1 |
| response to endogenous stimulus | 1 |
| response to chemical | 1 |
| response to peptide | 1 |
| membrane protein ectodomain proteolysis | 1 |
| negative regulation of protein catabolic process | 1 |
| negative regulation of proteolysis | 1 |
| regulation of membrane protein ectodomain proteolysis | 1 |
| metalloendopeptidase activity | 1 |
| endopeptidase inhibitor activity | 1 |
| cation binding | 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 |
| external encapsulating structure | 1 |
| secretory granule | 1 |
| cytoplasmic vesicle lumen | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
988 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TIMP4 | MMP2 | P08253 | 918 |
| TIMP4 | MMP9 | P14780 | 885 |
| TIMP4 | MMP14 | P50281 | 869 |
| TIMP4 | MMP3 | P08254 | 865 |
| TIMP4 | MMP8 | P22894 | 813 |
| TIMP4 | HPX | P02790 | 797 |
| TIMP4 | MMP1 | P03956 | 754 |
| TIMP4 | MMP26 | Q9NRE1 | 715 |
| TIMP4 | SYN2 | Q92777 | 699 |
| TIMP4 | TIMP2 | P16035 | 697 |
| TIMP4 | EGFR | P00533 | 691 |
| TIMP4 | MMP7 | P09237 | 677 |
| TIMP4 | S100A12 | P80511 | 643 |
| TIMP4 | MMP12 | P39900 | 641 |
| TIMP4 | TIMP3 | P35625 | 629 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TIMP4 | COL14A1 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (8): Pcsk5 (Affinity Capture-Western), TIMP4 (Two-hybrid), MMP2 (Reconstituted Complex), COL14A1 (Affinity Capture-MS), TIMP4 (Reconstituted Complex), TIMP4 (Affinity Capture-Luminescence), TIMP4 (Affinity Capture-Luminescence), CORO1C (Reconstituted Complex)
ESM2 similar proteins: A1A5X5, A1L2K1, A4D0V7, O02722, O42146, O54715, O97563, O97591, P01033, P01186, P10600, P12032, P15203, P16035, P16047, P17125, P20414, P20614, P24591, P25785, P30120, P30121, P35455, P35624, P40682, P49061, P50122, P55104, P81546, P81556, Q07258, Q13219, Q15904, Q5Q0T9, Q5RC60, Q5RJL6, Q641Q3, Q6Q484, Q7ZV46, Q8C1Q4
Diamond homologs: O02722, O42146, O73746, O77717, O97563, O97591, P01033, P12032, P16035, P16368, P20414, P20614, P25785, P26652, P30120, P30121, P35624, P35625, P39876, P48032, P49061, P50122, P61269, P79121, P81546, P81556, Q5PXZ9, Q5RC60, Q60453, Q95KL9, Q99727, Q9JHB3, Q9TRZ7, Q9TTY1, Q9TUL9, Q9W6B4, Q9WUC6, O97590, Q21265
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
1 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 1 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
692 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:12154319:T:A | donor_gain | 1.0000 |
| 3:12154320:C:A | donor_gain | 1.0000 |
| 3:12154321:CCTT:C | donor_loss | 1.0000 |
| 3:12154322:CTTAC:C | donor_loss | 1.0000 |
| 3:12154323:TTA:T | donor_loss | 1.0000 |
| 3:12154324:T:TG | donor_loss | 1.0000 |
| 3:12154325:A:AC | donor_gain | 1.0000 |
| 3:12154325:A:AG | donor_loss | 1.0000 |
| 3:12154326:C:CA | donor_loss | 1.0000 |
| 3:12154326:C:CT | donor_gain | 1.0000 |
| 3:12154326:CTTGG:C | donor_gain | 1.0000 |
| 3:12154367:T:A | donor_gain | 1.0000 |
| 3:12154447:CTGAC:C | acceptor_gain | 1.0000 |
| 3:12154448:TGAC:T | acceptor_gain | 1.0000 |
| 3:12154449:GAC:G | acceptor_gain | 1.0000 |
| 3:12154452:C:CC | acceptor_gain | 1.0000 |
| 3:12154452:C:CG | acceptor_loss | 1.0000 |
| 3:12154455:C:CT | acceptor_gain | 1.0000 |
| 3:12154464:A:C | acceptor_gain | 1.0000 |
| 3:12156813:AACTT:A | donor_loss | 1.0000 |
| 3:12156814:ACTT:A | donor_loss | 1.0000 |
| 3:12156815:CTTA:C | donor_loss | 1.0000 |
| 3:12156816:TTA:T | donor_loss | 1.0000 |
| 3:12156817:TAC:T | donor_loss | 1.0000 |
| 3:12156818:A:AC | donor_gain | 1.0000 |
| 3:12156819:C:A | donor_loss | 1.0000 |
| 3:12156819:C:CC | donor_gain | 1.0000 |
| 3:12156932:CAT:C | acceptor_gain | 1.0000 |
| 3:12156935:C:CC | acceptor_gain | 1.0000 |
| 3:12156943:CAAT:C | acceptor_gain | 1.0000 |
AlphaMissense
1467 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:12153656:C:A | W178C | 0.999 |
| 3:12153656:C:G | W178C | 0.999 |
| 3:12153663:C:G | C176S | 0.998 |
| 3:12153664:A:T | C176S | 0.998 |
| 3:12154393:C:A | W137C | 0.998 |
| 3:12154393:C:G | W137C | 0.998 |
| 3:12156867:C:G | C102S | 0.998 |
| 3:12156868:A:T | C102S | 0.998 |
| 3:12153569:C:A | W207C | 0.997 |
| 3:12153569:C:G | W207C | 0.997 |
| 3:12153600:C:G | C197S | 0.997 |
| 3:12153601:A:T | C197S | 0.997 |
| 3:12156825:A:G | L116S | 0.997 |
| 3:12156828:A:G | L115P | 0.997 |
| 3:12153664:A:G | C176R | 0.996 |
| 3:12154412:C:G | C131S | 0.996 |
| 3:12154413:A:T | C131S | 0.996 |
| 3:12157473:G:T | A50D | 0.996 |
| 3:12153599:A:C | C197W | 0.995 |
| 3:12153600:C:T | C197Y | 0.995 |
| 3:12153601:A:G | C197R | 0.995 |
| 3:12153701:G:C | C163W | 0.995 |
| 3:12154331:C:G | C158S | 0.995 |
| 3:12154332:A:T | C158S | 0.995 |
| 3:12156930:A:C | F81C | 0.995 |
| 3:12157474:C:G | A50P | 0.995 |
| 3:12157476:C:G | R49P | 0.995 |
| 3:12153658:A:G | W178R | 0.994 |
| 3:12153658:A:T | W178R | 0.994 |
| 3:12153662:G:C | C176W | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000388727 (3:12158340 T>C,G), RS1000457963 (3:12152763 A>C), RS1000751587 (3:12158557 C>G), RS1001365306 (3:12157314 C>T), RS1001795055 (3:12156961 A>G), RS1002275944 (3:12155524 C>G,T), RS1002358273 (3:12155834 A>C), RS1002383983 (3:12155984 T>C), RS1002389471 (3:12155666 G>A), RS1002940566 (3:12158915 C>T), RS1003192981 (3:12159681 T>C), RS1003282203 (3:12156739 G>A,C), RS1003381145 (3:12154134 G>C,T), RS1003906524 (3:12159889 A>G), RS1004601194 (3:12154237 T>C)
Disease associations
OMIM: gene MIM:601915 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005956_72 | Waist-to-hip ratio adjusted for BMI | 1.000000e-07 |
| GCST005957_11 | Waist-to-hip ratio adjusted for BMI (age <50) | 9.000000e-06 |
| GCST005958_19 | Waist-to-hip ratio adjusted for BMI (age >50) | 2.000000e-06 |
| GCST005962_29 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 9.000000e-09 |
| GCST006585_2539 | Blood protein levels | 2.000000e-33 |
| GCST010244_399 | Triglyceride levels | 2.000000e-10 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0004530 | triglyceride measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
50 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cisplatin | affects cotreatment, increases expression, affects expression | 3 |
| entinostat | increases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | decreases methylation, increases expression, increases methylation | 2 |
| Dexamethasone | increases expression, affects cotreatment | 2 |
| Nickel | decreases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| bisphenol A | increases expression | 1 |
| potassium perchlorate | decreases expression | 1 |
| terbufos | increases methylation | 1 |
| sulforaphane | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| coumarin | increases expression | 1 |
| triadimefon | decreases expression | 1 |
| benazol P | affects expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | increases expression, affects cotreatment, affects response to substance | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 3-nitrobenzanthrone | affects expression | 1 |
| 1-palmitoyl-2-(5-oxovaleroyl)-sn-glycero-3-phosphorylcholine | increases expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
| scriptaid | affects expression | 1 |
| lipopolysaccharide, E. coli O26-B6 | affects expression, affects cotreatment | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| MRK 003 | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| Resveratrol | 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.