MT1A
gene geneOn this page
Summary
MT1A (metallothionein 1A, HGNC:7393) is a protein-coding gene on chromosome 16q13, encoding Metallothionein-1A (P04731). Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids.
This gene is a member of the metallothionein family of genes. Proteins encoded by this gene family are low in molecular weight, are cysteine-rich, lack aromatic residues, and bind divalent heavy metal ions. The conserved cysteine residues co-ordinate metal ions using mercaptide linkages. These proteins act as anti-oxidants, protect against hydroxyl free radicals, are important in homeostatic control of metal in the cell, and play a role in detoxification of heavy metals. Disruption of two metallothionein genes in mouse resulted in defects in protection against heavy metals, oxidative stress, immune reactions, carcinogens, and displayed obesity.
Source: NCBI Gene 4489 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 6 total
- MANE Select transcript:
NM_005946
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7393 |
| Approved symbol | MT1A |
| Name | metallothionein 1A |
| Location | 16q13 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000205362 |
| Ensembl biotype | protein_coding |
| OMIM | 156350 |
| Entrez | 4489 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000290705, ENST00000908024, ENST00000908025, ENST00000927706
RefSeq mRNA: 1 — MANE Select: NM_005946
NM_005946
CCDS: CCDS32454
Canonical transcript exons
ENST00000290705 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001379268 | 56639859 | 56640087 |
| ENSE00001518676 | 56638666 | 56638766 |
| ENSE00001658022 | 56639264 | 56639329 |
Expression profiles
Bgee: expression breadth ubiquitous, 146 present calls, max score 99.89.
FANTOM5 (CAGE): breadth broad, TPM avg 22.1152 / max 3942.3575, expressed in 891 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 154247 | 22.1152 | 891 |
Top tissues by expression
152 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| layer of synovial tissue | UBERON:0007616 | 99.89 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 99.73 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 99.69 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 99.53 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 99.42 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 99.37 | gold quality |
| trachea | UBERON:0003126 | 99.10 | gold quality |
| paraflocculus | UBERON:0005351 | 99.04 | gold quality |
| frontal pole | UBERON:0002795 | 99.00 | gold quality |
| vastus lateralis | UBERON:0001379 | 98.83 | gold quality |
| quadriceps femoris | UBERON:0001377 | 98.82 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 98.37 | gold quality |
| cerebellar vermis | UBERON:0004720 | 98.09 | gold quality |
| left uterine tube | UBERON:0001303 | 98.04 | gold quality |
| thymus | UBERON:0002370 | 97.82 | gold quality |
| endometrium epithelium | UBERON:0004811 | 97.39 | gold quality |
| omental fat pad | UBERON:0010414 | 96.89 | gold quality |
| right lobe of liver | UBERON:0001114 | 96.67 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 96.08 | gold quality |
| adipose tissue | UBERON:0001013 | 94.22 | gold quality |
| liver | UBERON:0002107 | 93.73 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 93.44 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 92.20 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 91.73 | gold quality |
| mucosa of stomach | UBERON:0001199 | 91.52 | gold quality |
| gall bladder | UBERON:0002110 | 91.45 | gold quality |
| left coronary artery | UBERON:0001626 | 91.41 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 91.09 | gold quality |
| popliteal artery | UBERON:0002250 | 90.75 | gold quality |
| tibial artery | UBERON:0007610 | 90.75 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-126 | yes | 2343.49 |
| E-MTAB-7052 | yes | 193.91 |
| E-GEOD-135922 | yes | 25.91 |
| E-GEOD-130148 | yes | 4.37 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CEBPD, CXXC1, DNMT1, DNMT3A, FOS, HIF1A, HOXA1, IRF6, JDP2, JUN, LMO2, MTF1, NFE2L2, NFIC, NR3C1, NRF1, RBPJ, SP1, SPI1, STAT1, STAT3, TBP, TBXT, TCF3, TFCP2, USF1, ZNF410
miRNA regulators (miRDB)
11 targeting MT1A, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-12130 | 99.75 | 65.47 | 452 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
| HSA-MIR-891B | 99.59 | 69.81 | 1083 |
| HSA-MIR-4506 | 99.34 | 67.47 | 526 |
| HSA-MIR-382-3P | 98.83 | 67.10 | 1074 |
| HSA-MIR-6823-5P | 96.26 | 65.69 | 919 |
Literature-anchored findings (GeneRIF, showing 40)
- Metallothionein, potential interaction partner for ECRG2, might be involved in regulation of cell proliferation and apoptosis and in various physiological processes. (PMID:12970870)
- metallothionein measured in renal specimens from cadaver kidneys was restricted to tubular cells with no differences between controls and patients with death due to chronic diseases (PMID:15812196)
- The overexpression of human MT1A gene dynamically affected cell viability, and the effect was influenced by zinc and cadmium ions. (PMID:16087360)
- MT-II mRNA expression may be involved in cell proliferation in the livers of patients with chronic HCV infection. (PMID:16107899)
- +647 MT1a genetic polymorphism may be essential for longevity in women. (PMID:16955215)
- analysis of glial fibrillary acidic protein, metallothionein, and MHC II expression in human, rat and mouse cells (PMID:17008879)
- The findings define a pathway for cellular metal acquisition. The results suggest a function of MT in intercellular communication. (PMID:17111383)
- One biomarker which has recently shown to be expressed in various human tumors but still less reported in carcinoma is metallothionein. (PMID:17373731)
- The partially metallated and metal-free metallothionein-1a species are stable intermediates and thus may have a potential role in the currently undefined function of metallothionein. (PMID:17388808)
- The goals of this study were to define the expression of the isoforms of MT 1, 2, 3 at both mRNA and protein levels, in normal prostate, benign prostatic hyperplasia (BPH) and malignant PC-3 cells. (PMID:18208603)
- the association of the +647 A/C MT1A polymorphism with diabetes mellitus 2 and cardiovascular complications (PMID:18249147)
- the interleukin-6 and metallothionein 1a genes act in a concerted manner to control zinc-regulated gene expression (PMID:18316168)
- Metal exchange in metallothioneins: a novel structurally significant Cd(5) species in the alpha domain of MT1A. (PMID:18429853)
- This study provides the necessary data establishing unambiguously the noncooperative nature of cadmium binding to both isolated domains and the combined beta-domains (beta-rhMT) of human MT-1a. (PMID:18533113)
- Lupus nephritis is associated with significant alterations in renal MT-I+II expression. Important prognostic information can be deduced from the renal MT-I+II expression profile in systemic lupus erythematosus patients with nephritis. (PMID:18601746)
- MT-IA mRNA expression in HPBLs may be used as a biomarker for renal dysfunction in occupational cadmium exposure. (PMID:19359654)
- HIF-1alpha expression qualified as an independent prognostic and characterised an aggressive cancer phenotype associated with an increased expression of MT. (PMID:19529947)
- Data show that MT-I + II and megalin are significantly altered in CNS lymphoma relative to controls. (PMID:20038220)
- MT-1A, -1F, -1G, -1X and -2A isoforms are significantly down-regulated in proliferating keloid fibroblasts. (PMID:20812968)
- The expression of metallothioneins MT1A and MT1X was significantly downregulated during differentiation of Caco-2 cells treated with high levels of zinc. (PMID:21103883)
- Variations in the ability of LAT1/DMT1/MTF1/MT1a to process and transport Hg may not play a significant role in the etiology of autism. (PMID:21798283)
- Possible role of MT as a marker of cell stress and homeostasis restoration in Graves’disease. (PMID:22090273)
- MT1A rs11076161 was associated with B-Cd concentrations and Cd-induced kidney toxicity at high exposure levels. (PMID:22995156)
- A positive correlation between MT and Ki-67 expression was observed for all the studied cases but was even stronger in the metatypic subtype of basal cell carcinoma. (PMID:23042264)
- Polymorphisms in the MT1A gene may influence excretion of urine uric acid and N-acetyl-beta-D-glucosamine in chronic lead-exposed workers. (PMID:23429061)
- MT-1A is epigenetically regulated by PU.1 during monocytic differentiation. (PMID:23501100)
- During the titration with Zn(2+), the electrospray ionization mass spectrometry data show that several metalated species coexist until the fully saturated proteins are formed. (PMID:23506369)
- Increased metallothionein expression reflects steroid resistance in renal allograft recipients. (PMID:23763497)
- Low MT1A expression is associateed with lung carcinogenesis. (PMID:23947958)
- The metal-free, apo-alpha-MT also adopts a folded structure in the presence of the As(3+) even though there is no As(3+) bound. (PMID:24140052)
- Data indicate the calculated equilibrium zinc binding constants of each of the 7 zinc metallothionein 1A species ranged from a high of (log(KF)) 12.5 to a low of 11.8. (PMID:25208334)
- Modeling of the reactions showed that at both physiological (7.4) and acidic (5.8) pHs, zinc binding and cadmium exchanges occur essentially randomly between two MT1A fragments. (PMID:26167879)
- The Zinc and Cadmium exchange kinetics between human MT1A and carbonic anhydrase were examined using time-dependent electrospray ionization mass spectrometry. (PMID:26401817)
- We report on the competitive zinc metalation of apo-carbonic anhydrase [CA; metal-free CA (apo-CA)] in the presence of apo-metallothionein 1A domain fragments to identify domain specific determinants of zinc binding and zinc donation (PMID:26475450)
- Zn(ii) and Cd(ii) metalation of the human MT1a takes place through two distinct pathways. (PMID:26583802)
- MTF1 heads a hierarchy of zinc sensors, and through controlling the expression of a raft of metallothioneins and other key proteins involved in controlling intracellular zinc levels (e.g. ZnT1) alters zinc buffering capacity and total cellular zinc content. (PMID:26824222)
- These results clearly suggest that MT-1 may be involved in AD pathogenesis. (PMID:26836194)
- Neonatal phthalate ester exposure induced placental MTs, FATP1 and HFABP mRNA expression (PMID:26867681)
- The present study was undertaken to explore further the interrelationship between p53 and metallothioneins. (PMID:27049123)
- blockade of metallothioneins 1 and 2 constitutes a promising approach for the treatment of conditions which result in muscle atrophy. (PMID:27956698)
Cross-species orthologs
1 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mt2 | ENSDARG00000041623 |
Paralogs (11): MT3 (ENSG00000087250), MT4 (ENSG00000102891), MT1G (ENSG00000125144), MT2A (ENSG00000125148), MT1B (ENSG00000169688), MT1E (ENSG00000169715), MT1X (ENSG00000187193), MT1F (ENSG00000198417), MT1H (ENSG00000205358), MT1M (ENSG00000205364), MT1HL1 (ENSG00000244020)
Protein
Protein identifiers
Metallothionein-1A — P04731 (reviewed: P04731)
Alternative names: Metallothionein-IA
All UniProt accessions (1): P04731
UniProt curated annotations — full annotation on UniProt →
Function. Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids.
Subunit / interactions. Monomer.
Domain organisation. Class I metallothioneins contain 2 metal-binding domains: four divalent ions are chelated within cluster A of the alpha domain and are coordinated via cysteinyl thiolate bridges to 11 cysteine ligands. Cluster B, the corresponding region within the beta domain, can ligate three divalent ions to 9 cysteines.
Similarity. Belongs to the metallothionein superfamily. Type 1 family.
RefSeq proteins (1): NP_005937* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000006 | Metalthion_vert | Family |
| IPR017854 | Metalthion_dom_sf | Homologous_superfamily |
| IPR018064 | Metalthion_vert_metal_BS | Binding_site |
| IPR023587 | Metalthion_dom_sf_vert | Homologous_superfamily |
Pfam: PF00131
UniProt features (35 total): binding site 28, region of interest 2, modified residue 2, sequence variant 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P04731-F1 | 79.00 | 0.00 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (28): 21; 24; 24; 26; 29; 33; 34; 34; 36; 37; 37; 41 …
Post-translational modifications (2): 1, 58
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-5661231 | Metallothioneins bind metals |
| R-HSA-5660526 | Response to metal ions |
| R-HSA-8953897 | Cellular responses to stimuli |
MSigDB gene sets: 95 (showing top):
BENPORATH_ES_WITH_H3K27ME3, GOBP_RESPONSE_TO_ZINC_ION, GOBP_CELLULAR_RESPONSE_TO_CADMIUM_ION, GOBP_GROWTH, SCHLESINGER_METHYLATED_DE_NOVO_IN_CANCER, GOBP_RESPONSE_TO_COPPER_ION, GOBP_RESPONSE_TO_METAL_ION, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, BROWNE_HCMV_INFECTION_14HR_DN, GOBP_DETOXIFICATION, GOBP_CELLULAR_RESPONSE_TO_ZINC_ION, FONTAINE_PAPILLARY_THYROID_CARCINOMA_DN, PETROVA_ENDOTHELIUM_LYMPHATIC_VS_BLOOD_DN, GOBP_MONOATOMIC_ION_HOMEOSTASIS, GOBP_RESPONSE_TO_TOXIC_SUBSTANCE
GO Biological Process (6): intracellular zinc ion homeostasis (GO:0006882), detoxification of copper ion (GO:0010273), negative regulation of growth (GO:0045926), cellular response to cadmium ion (GO:0071276), cellular response to copper ion (GO:0071280), cellular response to zinc ion (GO:0071294)
GO Molecular Function (3): zinc ion binding (GO:0008270), metal ion binding (GO:0046872), protein binding (GO:0005515)
GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Response to metal ions | 1 |
| Cellular responses to stimuli | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular response to metal ion | 3 |
| cellular anatomical structure | 2 |
| intracellular monoatomic cation homeostasis | 1 |
| inorganic ion homeostasis | 1 |
| detoxification of inorganic compound | 1 |
| stress response to copper ion | 1 |
| growth | 1 |
| regulation of growth | 1 |
| negative regulation of biological process | 1 |
| response to cadmium ion | 1 |
| response to copper ion | 1 |
| response to zinc ion | 1 |
| transition metal ion binding | 1 |
| cation binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
388 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MT1A | ATP7B | P35670 | 699 |
| MT1A | KRT4 | P19013 | 666 |
| MT1A | BAG3 | O95817 | 650 |
| MT1A | BAG2 | O95816 | 635 |
| MT1A | SLC30A1 | Q9Y6M5 | 616 |
| MT1A | KRT13 | P13646 | 588 |
| MT1A | ATP7A | Q04656 | 574 |
| MT1A | NQO1 | P15559 | 572 |
| MT1A | KRT33A | O76009 | 550 |
| MT1A | MTF1 | Q14872 | 549 |
| MT1A | GSR | P00390 | 546 |
| MT1A | APRT | P07741 | 525 |
| MT1A | TP53 | P04637 | 504 |
| MT1A | BAG1 | Q99933 | 492 |
| MT1A | ZNF570 | Q96NI8 | 445 |
IntAct
9 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TP53 | MT1A | psi-mi:“MI:0407”(direct interaction) | 0.540 |
| MT1A | TP53 | psi-mi:“MI:0915”(physical association) | 0.540 |
| GPR50 | MT1A | psi-mi:“MI:0915”(physical association) | 0.520 |
| GPR50 | MT1A | psi-mi:“MI:2364”(proximity) | 0.520 |
| GPR50 | MT1A | psi-mi:“MI:0403”(colocalization) | 0.520 |
| MT1A | GNAI1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ARRB1 | MT1A | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (3): MT1A (Affinity Capture-MS), MT1A (Affinity Capture-RNA), MT1A (Co-fractionation)
ESM2 similar proteins: A1L3X4, O18842, O42152, P02797, P02798, P02800, P02801, P02802, P02803, P02804, P04355, P04731, P04733, P07438, P09577, P09578, P0DM35, P11957, P13640, P14425, P15786, P17808, P18055, P25713, P27087, P37360, P55942, P55943, P55944, P58280, P67981, P67982, P67983, P68041, P68301, P68302, P68303, P68304, P79376, P79377
Diamond homologs: O18842, O19000, P02795, P02797, P02798, P02800, P02801, P02802, P02803, P02804, P04355, P04731, P04732, P04733, P07438, P09577, P09578, P0DM35, P11957, P13640, P14425, P17808, P18055, P47944, P47945, P49068, P55942, P55943, P58280, P67981, P67982, P67983, P68041, P68301, P68302, P68303, P68304, P79376, P79377, P79378
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
6 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 4 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
168 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:56639325:GAAGA:G | donor_gain | 1.0000 |
| 16:56639328:GA:G | donor_gain | 1.0000 |
| 16:56639330:G:GG | donor_gain | 1.0000 |
| 16:56638765:TGG:T | donor_loss | 0.9900 |
| 16:56638767:G:GC | donor_loss | 0.9900 |
| 16:56638767:G:GG | donor_gain | 0.9900 |
| 16:56639749:GAAC:G | donor_gain | 0.9900 |
| 16:56639752:C:CG | donor_gain | 0.9900 |
| 16:56639752:C:G | donor_gain | 0.9900 |
| 16:56640003:G:GT | donor_gain | 0.9900 |
| 16:56638764:CTG:C | donor_gain | 0.9800 |
| 16:56638773:GATGC:G | donor_gain | 0.9800 |
| 16:56639327:AGA:A | donor_gain | 0.9800 |
| 16:56639328:GAG:G | donor_gain | 0.9800 |
| 16:56639258:TTGCA:T | acceptor_loss | 0.9700 |
| 16:56639259:TGCAG:T | acceptor_loss | 0.9700 |
| 16:56639260:GCAG:G | acceptor_loss | 0.9700 |
| 16:56639261:CA:C | acceptor_loss | 0.9700 |
| 16:56639262:AGGT:A | acceptor_gain | 0.9700 |
| 16:56639263:GGTG:G | acceptor_gain | 0.9700 |
| 16:56639974:A:G | donor_gain | 0.9700 |
| 16:56639988:ACCT:A | donor_gain | 0.9700 |
| 16:56638763:ACTG:A | donor_gain | 0.9600 |
| 16:56638773:G:T | donor_gain | 0.9600 |
| 16:56638777:C:G | donor_gain | 0.9600 |
| 16:56639326:AAGA:A | donor_gain | 0.9600 |
| 16:56639327:AGAGT:A | donor_loss | 0.9600 |
| 16:56639329:AG:A | donor_loss | 0.9600 |
| 16:56639330:GTGA:G | donor_loss | 0.9600 |
| 16:56639331:TGAG:T | donor_loss | 0.9600 |
AlphaMissense
403 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:56639875:C:G | C37W | 0.770 |
| 16:56639278:T:C | C15R | 0.760 |
| 16:56639272:T:C | C13R | 0.734 |
| 16:56639873:T:C | C37R | 0.728 |
| 16:56639906:T:C | C48R | 0.722 |
| 16:56639872:C:G | C36W | 0.721 |
| 16:56639311:T:C | C26R | 0.719 |
| 16:56639870:T:C | C36R | 0.719 |
| 16:56639866:C:G | C34W | 0.717 |
| 16:56639873:T:A | C37S | 0.711 |
| 16:56639874:G:C | C37S | 0.711 |
| 16:56639887:T:G | C41W | 0.711 |
| 16:56639906:T:A | C48S | 0.711 |
| 16:56639907:G:C | C48S | 0.711 |
| 16:56638753:C:G | C5W | 0.710 |
| 16:56639280:C:G | C15W | 0.710 |
| 16:56639313:C:G | C26W | 0.700 |
| 16:56639894:T:A | C44S | 0.699 |
| 16:56639895:G:C | C44S | 0.699 |
| 16:56639912:T:A | C50S | 0.699 |
| 16:56639913:G:C | C50S | 0.699 |
| 16:56639896:T:G | C44W | 0.698 |
| 16:56639914:C:G | C50W | 0.696 |
| 16:56639290:T:C | C19R | 0.692 |
| 16:56639908:C:G | C48W | 0.688 |
| 16:56639941:C:G | C59W | 0.687 |
| 16:56639935:C:G | C57W | 0.685 |
| 16:56639863:C:G | C33W | 0.678 |
| 16:56638759:C:G | C7W | 0.675 |
| 16:56639278:T:A | C15S | 0.675 |
dbSNP variants (sampled 300 via entrez): RS1000414492 (16:56638570 G>C,T), RS1000468265 (16:56638822 G>C,T), RS1004262434 (16:56638371 A>T), RS1005877412 (16:56639239 C>A), RS1009176788 (16:56637965 G>T), RS1010436105 (16:56638842 T>G), RS1010864296 (16:56639175 G>A), RS1014286451 (16:56638552 C>A,T), RS1014601690 (16:56639483 G>A,T), RS1015001896 (16:56639253 C>T), RS1015595126 (16:56638183 G>A,C), RS1019117763 (16:56639199 G>A), RS1020783645 (16:56640257 T>G), RS1020817428 (16:56639951 T>A), RS1022965035 (16:56638554 G>A)
Disease associations
OMIM: gene MIM:156350 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010242_428 | HDL cholesterol levels | 1.000000e-21 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004612 | high density lipoprotein cholesterol measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
107 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cadmium | affects binding, increases abundance, decreases reaction, affects response to substance, affects reaction (+5 more) | 19 |
| Zinc | increases expression, increases reaction, decreases reaction, affects reaction, decreases expression (+2 more) | 14 |
| Cadmium Chloride | increases abundance, decreases response to substance, increases reaction, decreases reaction, increases expression (+2 more) | 12 |
| sodium arsenite | affects cotreatment, increases expression, increases abundance | 10 |
| Arsenic | affects binding, decreases expression, increases expression, affects cotreatment, increases abundance | 5 |
| Silver | increases expression | 5 |
| Arsenic Trioxide | decreases expression, increases expression, affects response to substance | 4 |
| Benzo(a)pyrene | increases expression, increases reaction, decreases expression, increases methylation | 4 |
| Zinc Sulfate | decreases reaction, increases expression, increases reaction | 4 |
| Copper Sulfate | increases expression | 4 |
| cupric oxide | increases expression | 3 |
| Cisplatin | affects expression, increases expression | 3 |
| Estradiol | decreases expression, increases expression, affects cotreatment, affects expression | 3 |
| Silver Nitrate | decreases reaction, increases expression | 3 |
| Aflatoxin B1 | decreases reaction, increases reaction, decreases methylation, increases expression | 3 |
| Particulate Matter | increases expression, decreases reaction | 3 |
| bisphenol A | affects expression, decreases methylation | 2 |
| ochratoxin A | affects cotreatment, increases expression, increases reaction | 2 |
| N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine | affects cotreatment, increases expression, decreases reaction | 2 |
| (+)-JQ1 compound | decreases expression | 2 |
| Vehicle Emissions | decreases reaction, increases expression | 2 |
| Copper | increases expression, affects binding, decreases expression | 2 |
| Dexamethasone | decreases reaction, increases expression | 2 |
| Mercury | affects abundance | 2 |
| Tetrachlorodibenzodioxin | decreases expression, increases expression | 2 |
| Valproic Acid | increases methylation, increases expression | 2 |
| 3,19-(2-bromobenzylidene)andrographolide | decreases expression, decreases response to substance | 1 |
| XMU-MP-1 | increases reaction, increases expression | 1 |
| ML385 | increases expression, decreases reaction | 1 |
| linsidomine | decreases expression, decreases reaction, increases activity, 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.