MT2A

Summary

MT2A (metallothionein 2A, HGNC:7406) is a protein-coding gene on chromosome 16q13, encoding Metallothionein-2 (P02795). Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids. It is a selective cancer dependency (DepMap: 43.8% of cell lines).

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, altering the intracellular concentration of heavy metals in the cell. 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. The encoded protein interacts with the protein encoded by the homeobox containing 1 gene in some cell types, controlling intracellular zinc levels, affecting apoptotic and autophagy pathways. Some polymorphisms in this gene are associated with an increased risk of cancer.

Source: NCBI Gene 4502 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 7 total
• Cancer dependency (DepMap): dependent in 43.8% of screened cell lines
• MANE Select transcript: NM_005953

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7406
Approved symbol	MT2A
Name	metallothionein 2A
Location	16q13
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000125148
Ensembl biotype	protein_coding
OMIM	156360
Entrez	4502

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000245185, ENST00000561491, ENST00000562017, ENST00000563985, ENST00000567300, ENST00000931885

RefSeq mRNA: 1 — MANE Select: NM_005953 NM_005953

CCDS: CCDS10763

Canonical transcript exons

ENST00000245185 — 3 exons

Exon	Start	End
ENSE00001421641	56608584	56608683
ENSE00003593265	56608992	56609057
ENSE00003693890	56609263	56609497

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 99.97.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3533.2575 / max 42174.8962, expressed in 1825 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
154231	3532.9422	1825
154230	0.3152	165

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pericardium	UBERON:0002407	99.97	gold quality
right lobe of liver	UBERON:0001114	99.93	gold quality
olfactory bulb	UBERON:0002264	99.93	gold quality
mucosa of transverse colon	UBERON:0004991	99.91	gold quality
left uterine tube	UBERON:0001303	99.90	gold quality
lateral globus pallidus	UBERON:0002476	99.90	gold quality
right lobe of thyroid gland	UBERON:0001119	99.87	gold quality
cartilage tissue	UBERON:0002418	99.87	gold quality
upper lobe of left lung	UBERON:0008952	99.86	gold quality
left lobe of thyroid gland	UBERON:0001120	99.85	gold quality
adrenal cortex	UBERON:0001235	99.85	gold quality
right lung	UBERON:0002167	99.85	gold quality
CA1 field of hippocampus	UBERON:0003881	99.85	gold quality
upper lobe of lung	UBERON:0008948	99.85	gold quality
left adrenal gland cortex	UBERON:0035825	99.85	gold quality
mucosa of stomach	UBERON:0001199	99.84	gold quality
right adrenal gland	UBERON:0001233	99.84	gold quality
left adrenal gland	UBERON:0001234	99.84	gold quality
peritoneum	UBERON:0002358	99.84	gold quality
omental fat pad	UBERON:0010414	99.84	gold quality
ileal mucosa	UBERON:0000331	99.83	gold quality
left coronary artery	UBERON:0001626	99.83	gold quality
synovial joint	UBERON:0002217	99.83	gold quality
thyroid gland	UBERON:0002046	99.82	gold quality
coronary artery	UBERON:0001621	99.81	gold quality
substantia nigra pars reticulata	UBERON:0001966	99.81	gold quality
right adrenal gland cortex	UBERON:0035827	99.81	gold quality
tibialis anterior	UBERON:0001385	99.79	gold quality
popliteal artery	UBERON:0002250	99.78	gold quality
vena cava	UBERON:0004087	99.78	gold quality

Single-cell (SCXA)

Detected in 58 experiment(s), a significant marker in 46.

Experiment	Marker?	Max mean expression
E-MTAB-9841	yes	35101.88
E-MTAB-9435	yes	33981.20
E-CURD-126	yes	28979.60
E-ANND-2	yes	27068.35
E-MTAB-6308	yes	22270.17
E-MTAB-10553	yes	18513.80
E-MTAB-8322	yes	17493.73
E-GEOD-130148	yes	16160.01
E-HCAD-9	yes	15133.74
E-CURD-98	yes	14737.15
E-GEOD-124472	yes	13661.76
E-MTAB-8530	yes	12093.30
E-MTAB-10283	yes	11010.57
E-ENAD-21	yes	10058.74
E-CURD-7	yes	9695.21

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AHR, AP1, AR, CEBPA, JUN, KLF15, MTF1, NFIA, NR3C1, NRF1, RBPJ, SP1

miRNA regulators (miRDB)

14 targeting MT2A, 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-4668-3P	100.00	68.74	2635
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-12130	99.75	65.47	452
HSA-MIR-376A-3P	99.06	69.17	1128
HSA-MIR-376B-3P	99.06	69.17	1128
HSA-MIR-382-3P	98.83	67.10	1074
HSA-MIR-3613-5P	98.40	68.91	604
HSA-MIR-3190-3P	97.61	66.95	1406
HSA-MIR-3192-5P	96.98	65.76	1926
HSA-MIR-6823-5P	96.26	65.69	919

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 43.8% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 40)

• Transgenic mice overexpressing human metallothionein 2A from a cardiac-specific promoter were protected from doxorubicin cardiotoxicity. MT can protect the heart from oxidative injury only if it is present prior to induction of oxidative stress. (PMID:12192109)
• Data suggest that the physical interaction of esophageal cancer related gene 2 (ECRG2) and metallothionein 2A (MT2A) may play an important role in the carcinogenesis of esophageal cancer. (PMID:12646258)
• zinc ion bioavailability by zinc-bound MTs homeostasis is pivotal to reach health longevity and successful ageing. (PMID:12714254)
• metallothionein plays a significant role in erythropoietin-induced proliferation, but not in the erythroid-specific differentiation of progenitor cells (PMID:14530512)
• Metallothionein 2A interacts with the kinase domain of PKCmu and may have a role in prostate cancer (PMID:14550308)
• liver and perhaps other cells, Zn(7)-MT is probably important in the cytosolic trafficking of zinc to the mitochondria for the uptake of zinc into the mitochondrial matrix by the putative zinc uptake transporter (PMID:15041247)
• EOLA1 and MT2A may have an important role of cell protection in inflammation reaction. (PMID:15541360)
• Eight MT genes were up-regulated after treatment of T-ALL cells with 0.15 and 1.5 microg/mL of metal ores. Heavy metal binding activity. (PMID:15747776)
• The Overexpressed MT2 with added zinc showed a greater inhibitory effect on cell viability and protected cells against low concentrations of cadmium ions (10 microM), but increased cell death in response to high concentrations (20-50 microM). (PMID:16087360)
• MT1 and MT2 deficient mice are susceptible to acute lung injury (PMID:16166738)
• Findings suggest that EOLA1 is a novel gene and the interaction of EOLA1 and MT2A may play an important role in cell protection in inflammation reaction. (PMID:16215939)
• MT2a has a role in oxidative stress, and the formation of MT disulfide bonds is involved in the regulation of zinc homeostasis (PMID:16243847)
• MT2A expression may be a beneficial downstream adaptive response in complex I-deficient cells. (PMID:16402917)
• the A –> G single-nucleotide polymorphism reduces the efficiency of those aspects of the transcription of the gene for MT-IIA that are controlled by general transcription factors (PMID:16927099)
• High-yield expression in Escherichia coli of soluble MT2A with native functions was studied. (PMID:17224279)
• The +838 C/G MT2A polymorphism seems to influence inflammatory markers, zinc availability, NK cell cytotoxicity, and trace element status, all of which may promote carotid artery stenosis development. (PMID:17622311)
• MT was up-regulated under hypoxia in prostate cancer cells and overexpressed in prostate cancer tissue and residual cancer cells after androgen ablation therapy (PMID:17914565)
• 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)
• 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)
• Inhibition of MT2A expression by siRNA in the HIPK2 knockdown cells restored p53 transcription activity. (PMID:18996371)
• MT-2A could plausibly modulate cell cycle progression from G1- to S-phase via the ATM/Chk2/cdc25A pathway (PMID:19062161)
• Nickel mobilizes intracellular zinc to induce MT2A in human airway epithelial cells. (PMID:19097988)
• Stable overexpression of human metallothionein-IIA in a heart-derived cell line confers oxidative protection. (PMID:19433272)
• A –> G single-nucleotide polymorphism was deteceted in metallothionein 2A core promoter region of Turkish population. (PMID:19572214)
• It plays a role in the detoxification of heavy metals and reactive oxygen species. (review) (PMID:19881214)
• Data show that MT-I + II and megalin are significantly altered in CNS lymphoma relative to controls. (PMID:20038220)
• Data suggest that increase in cell size, intracellular granulation and megakaryocytic specific antigen expression such as CD41 and CD42, and arresting cell proliferation validate the role of metallothioneins in cell differentiation. (PMID:20127519)
• The core promoter region polymorphism of metallothionein 2A increases the accumulation of Cd in human renal cortex. (PMID:20303360)
• MT2 diminishes Transthyretin-Abeta binding, whereas MT3 has the opposite effect (PMID:20646067)
• metallothioneins represented by MT-2A capable of protecting against Abeta aggregation and toxicity (PMID:20711450)
• MT-1A, -1F, -1G, -1X and -2A isoforms are significantly down-regulated in proliferating keloid fibroblasts. (PMID:20812968)
• MT-2A promotes breast cancer cell invasion by upregulating MMP-9 via AP-1 and NF-kappaB activation. (PMID:21187089)
• these data support that the IL-6 -174 C+ carriers and MT2A -5 G- carriers may be more advantageous for longevity. (PMID:21277639)
• MT2A -5A/G core promoter region single nucleotide polymorphism has an effect in accumulating placental Cd and transferring maternal to fetal essential micronutrients. (PMID:21328412)
• Highly statistically significant associations are detected between the -5 adenine/guanine core promoter region single nucleotide polymorphism in the MT2A gene and cadmium, lead, and zinc (but not copper) blood levels. (PMID:21767559)
• MT-I/II may play a key role in IDC proliferation, but is not a useful prognostic factor of this disease (PMID:21868554)
• pregnant women with AG genotype for MT2A polymorphism might have high blood lead levels and their newborns may be at risk of low-level cord blood lead variation (PMID:22005883)
• Possible role of MT as a marker of cell stress and homeostasis restoration in Graves’disease. (PMID:22090273)
• High MT2A is associated with prostate cancer. (PMID:22248277)
• Investigated whether MT2A gene polymorphisms are associated with a risk of prostate cancer. Three MT2A SNPs were genotyped in 358 prostate cancer cases and 406 population controls; one SNP showed a positive association with prostate cancer. (PMID:22824183)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
danio_rerio	mt2	ENSDARG00000041623

Paralogs (11): MT3 (ENSG00000087250), MT4 (ENSG00000102891), MT1G (ENSG00000125144), MT1B (ENSG00000169688), MT1E (ENSG00000169715), MT1X (ENSG00000187193), MT1F (ENSG00000198417), MT1H (ENSG00000205358), MT1A (ENSG00000205362), MT1M (ENSG00000205364), MT1HL1 (ENSG00000244020)

Protein

Protein identifiers

Metallothionein-2 — P02795 (reviewed: P02795)

Alternative names: Metallothionein-2A, Metallothionein-II

All UniProt accessions (2): P02795, H3BSP9

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. Interacts with EOLA1.

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.

Miscellaneous. This metallothionein binds zinc.

Similarity. Belongs to the metallothionein superfamily. Type 1 family.

RefSeq proteins (1): NP_005944* (*=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 (38 total): binding site 28, region of interest 2, modified residue 2, strand 2, helix 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
1MHU	SOLUTION NMR
2MHU	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P02795-F1	80.15	0.02

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

7 pathways

ID	Pathway
R-HSA-5661231	Metallothioneins bind metals
R-HSA-877300	Interferon gamma signaling
R-HSA-1280215	Cytokine Signaling in Immune system
R-HSA-168256	Immune System
R-HSA-5660526	Response to metal ions
R-HSA-8953897	Cellular responses to stimuli
R-HSA-913531	Interferon Signaling

MSigDB gene sets: 483 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, GOBP_RESPONSE_TO_ZINC_ION, MCLACHLAN_DENTAL_CARIES_UP, MODULE_169, SWEET_KRAS_ONCOGENIC_SIGNATURE, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, GOZGIT_ESR1_TARGETS_DN, GOBP_CELLULAR_RESPONSE_TO_CADMIUM_ION, GOBP_GROWTH, HSIAO_HOUSEKEEPING_GENES, GOBP_RESPONSE_TO_COPPER_ION, ADDYA_ERYTHROID_DIFFERENTIATION_BY_HEMIN

GO Biological Process (9): intracellular copper ion homeostasis (GO:0006878), intracellular zinc ion homeostasis (GO:0006882), detoxification of copper ion (GO:0010273), cellular response to interleukin-3 (GO:0036016), cellular response to erythropoietin (GO:0036018), 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-5 pathways:

Category	Pathways
Response to metal ions	1
Interferon Signaling	1
Immune System	1
Cellular responses to stimuli	1
Cytokine Signaling in Immune system	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular response to metal ion	3
intracellular monoatomic cation homeostasis	2
cellular response to cytokine stimulus	2
cellular anatomical structure	2
copper ion homeostasis	1
inorganic ion homeostasis	1
detoxification of inorganic compound	1
stress response to copper ion	1
response to interleukin-3	1
response to erythropoietin	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

870 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MT2A	EOLA1	Q8TE69	765
MT2A	MTF2	Q9Y483	763
MT2A	CRYZL1	O95825	762
MT2A	APOD	P05090	742
MT2A	CSTB	P04080	737
MT2A	C1QB	P02746	720
MT2A	MC3R	P41968	684
MT2A	MC5R	P33032	649
MT2A	CD7	P09564	647
MT2A	SLC30A1	Q9Y6M5	621
MT2A	ATP7B	P35670	604
MT2A	CTSS	P25774	596
MT2A	KRT4	P19013	590
MT2A	ATP7A	Q04656	586
MT2A	FOS	P01100	576
MT2A	HMBOX1	Q6NT76	576

IntAct

87 interactions, top by confidence:

A	B	Type	Score
MT2A	SPINK7	psi-mi:“MI:0915”(physical association)	0.700
SPINK7	MT2A	psi-mi:“MI:0407”(direct interaction)	0.700
SPINK7	MT2A	psi-mi:“MI:0403”(colocalization)	0.700
SPINK7	MT2A	psi-mi:“MI:0915”(physical association)	0.700
MT2A	PRKD1	psi-mi:“MI:0915”(physical association)	0.590
PRKD1	MT2A	psi-mi:“MI:0915”(physical association)	0.590
PRKD1	MT2A	psi-mi:“MI:0403”(colocalization)	0.590
MT2A	APOE	psi-mi:“MI:0915”(physical association)	0.560
MT2A		psi-mi:“MI:0915”(physical association)	0.560
MT2A	FLNA	psi-mi:“MI:0915”(physical association)	0.560
MAT2A	MT2A	psi-mi:“MI:0915”(physical association)	0.560
MT2A	PMP22	psi-mi:“MI:0915”(physical association)	0.560
SNRPB	MT2A	psi-mi:“MI:0915”(physical association)	0.560
MT2A	ICAM5	psi-mi:“MI:0915”(physical association)	0.560
DNALI1	MT2A	psi-mi:“MI:0915”(physical association)	0.560
KLF11	MT2A	psi-mi:“MI:0915”(physical association)	0.560
NUP58	MT2A	psi-mi:“MI:0915”(physical association)	0.560
MT2A	COL26A1	psi-mi:“MI:0915”(physical association)	0.560
MT2A	SNCA	psi-mi:“MI:0915”(physical association)	0.560
MT2A	HTT	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (51): MT2A (Two-hybrid), MT2A (Two-hybrid), MT2A (Two-hybrid), ARF6 (Reconstituted Complex), MT2A (Two-hybrid), MT2A (Affinity Capture-MS), MT2A (Affinity Capture-RNA), PRKD1 (Affinity Capture-Western), MT2A (Two-hybrid), MT2A (Two-hybrid), MT2A (Reconstituted Complex), MT2A (Affinity Capture-Western), MT2A (Two-hybrid), PRKD1 (Two-hybrid), MT2A (Proximity Label-MS)

ESM2 similar proteins: O18842, O19000, P02795, P02797, P02798, P02800, P02801, P02802, P02803, P02804, P04355, P04731, P04732, P04733, P07438, P09577, P09578, P0DM35, P11957, P13640, P14425, P17808, P18055, P49068, P55942, P55943, P58280, P67981, P67982, P67983, P68041, P68301, P68302, P68303, P68304, P79376, P79377, P79378, P79379, P79380

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	6
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

119 predictions. Top by Δscore:

Variant	Effect	Δscore
16:56608987:TGCA:T	acceptor_loss	1.0000
16:56608990:A:AG	acceptor_gain	1.0000
16:56608990:AG:A	acceptor_gain	1.0000
16:56608990:AGGT:A	acceptor_gain	1.0000
16:56608991:G:A	acceptor_loss	1.0000
16:56608991:G:GA	acceptor_gain	1.0000
16:56608991:GG:G	acceptor_gain	1.0000
16:56608991:GGT:G	acceptor_gain	1.0000
16:56608991:GGTG:G	acceptor_gain	1.0000
16:56608991:GGTGA:G	acceptor_gain	1.0000
16:56609053:GAAAA:G	donor_gain	1.0000
16:56609057:AG:A	donor_loss	1.0000
16:56609058:G:GG	donor_gain	1.0000
16:56608987:T:TA	acceptor_gain	0.9900
16:56609054:AAAA:A	donor_gain	0.9900
16:56609055:AAA:A	donor_gain	0.9900
16:56609056:AA:A	donor_gain	0.9900
16:56609059:T:A	donor_loss	0.9900
16:56608680:GCCG:G	donor_gain	0.9800
16:56608681:CCGG:C	donor_loss	0.9800
16:56608684:G:GG	donor_gain	0.9800
16:56608685:T:G	donor_loss	0.9800
16:56609257:CCCCA:C	acceptor_loss	0.9800
16:56609258:CCCA:C	acceptor_loss	0.9800
16:56609259:CCA:C	acceptor_loss	0.9800
16:56609260:CAG:C	acceptor_loss	0.9800
16:56609261:A:AG	acceptor_gain	0.9800
16:56609262:G:GG	acceptor_gain	0.9800
16:56609262:G:GT	acceptor_loss	0.9800
16:56609262:GGCT:G	acceptor_gain	0.9800

AlphaMissense

402 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:56609279:C:G	C37W	0.869
16:56609277:T:C	C37R	0.864
16:56609274:T:C	C36R	0.849
16:56609298:T:A	C44S	0.847
16:56609299:G:C	C44S	0.847
16:56609277:T:A	C37S	0.842
16:56609278:G:C	C37S	0.842
16:56609316:T:A	C50S	0.839
16:56609317:G:C	C50S	0.839
16:56609310:T:A	C48S	0.837
16:56609311:G:C	C48S	0.837
16:56609310:T:C	C48R	0.836
16:56609276:C:G	C36W	0.828
16:56609339:C:G	C57W	0.824
16:56609270:C:G	C34W	0.816
16:56609318:C:G	C50W	0.815
16:56609300:T:G	C44W	0.809
16:56609006:T:C	C15R	0.807
16:56609337:T:C	C57R	0.807
16:56609312:C:G	C48W	0.803
16:56609268:T:C	C34R	0.801
16:56609316:T:C	C50R	0.801
16:56609039:T:C	C26R	0.797
16:56609345:C:G	C59W	0.791
16:56609018:T:C	C19R	0.789
16:56609291:T:G	C41W	0.789
16:56609018:T:A	C19S	0.787
16:56609019:G:C	C19S	0.787
16:56609000:T:C	C13R	0.781
16:56609343:T:C	C59R	0.781

dbSNP variants (sampled 300 via entrez): RS1001822139 (16:56607503 C>T), RS1001938051 (16:56607688 C>G,T), RS1006449317 (16:56607412 G>T), RS1007722906 (16:56608524 G>A), RS1007750167 (16:56608335 C>A,T), RS1011751698 (16:56607703 G>A), RS1011808913 (16:56607947 T>C), RS1015947177 (16:56608349 C>G,T), RS1016868878 (16:56606769 C>T), RS1016963311 (16:56607140 G>A,C,T), RS1017573277 (16:56609407 G>A), RS1020439110 (16:56607714 C>G), RS1020538706 (16:56607968 C>T), RS1024236542 (16:56607442 C>T), RS1024546047 (16:56607204 G>A)

Disease associations

OMIM: gene MIM:156360 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cadmium	affects expression, affects binding, increases abundance, decreases reaction, affects reaction (+7 more)	27
Cadmium Chloride	increases expression, affects reaction, decreases expression, increases abundance, affects cotreatment (+2 more)	27
Zinc	affects expression, increases reaction, decreases reaction, affects binding, increases expression (+3 more)	24
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	21
Arsenic Trioxide	affects binding, decreases reaction, decreases expression, increases reaction, decreases response to substance (+2 more)	14
Estradiol	affects cotreatment, decreases expression, increases expression, increases activity	9
Zinc Sulfate	increases expression, increases reaction, decreases reaction, affects reaction, increases abundance (+1 more)	9
zinc chloride	decreases reaction, increases expression, affects cotreatment	8
Benzo(a)pyrene	affects methylation, affects cotreatment, increases expression, decreases expression, increases methylation	7
Silver	increases expression	7
Tetrachlorodibenzodioxin	increases expression, increases reaction, affects cotreatment, decreases expression	7
Valproic Acid	increases expression, affects expression, affects cotreatment	7
Arsenic	affects expression, decreases expression, increases expression, affects cotreatment, increases abundance	6
Cisplatin	increases response to substance, affects expression, increases expression, affects response to substance, decreases response to substance (+1 more)	6
Copper	affects expression, increases expression, affects binding	6
Tobacco Smoke Pollution	increases expression, affects expression, decreases expression	6
Copper Sulfate	increases expression	6
cupric chloride	affects expression, increases expression, increases reaction	5
Nickel	decreases reaction, increases expression	5
Particulate Matter	increases abundance, increases expression, affects cotreatment, decreases expression	5
bisphenol A	affects expression, decreases expression	4
Dexamethasone	increases expression, increases reaction, affects cotreatment, decreases expression, affects reaction	4
Doxorubicin	affects cotreatment, increases expression, decreases expression, decreases response to substance, increases response to substance	4
Lead	affects cotreatment, increases expression, affects abundance, increases response to substance	4
Oxygen	increases expression	4
Silver Nitrate	increases expression	4
pyrithione zinc	affects cotreatment, increases expression	3
cupric oxide	increases expression	3
cadmium sulfate	increases expression	3
N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine	affects cotreatment, increases expression, decreases reaction	3

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B3BC	Abcam HEK293T MT2A KO	Transformed cell line	Female

Clinical trials (associated diseases)

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