MT2A

Chr 16

metallothionein 2A

Also known as: MT-2, MT-II, MT2

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. [provided by RefSeq, Sep 2017]

ResearchGenerating clinical summary…
0
Active trials
69
Pubs (1 yr)
P/LP submissions
P/LP missense
1.95
LOEUF
GOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.95LOEUF
pLI 0.000
Z-score -1.31
OE 1.77 (0.831.95)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.45Z-score
OE missense 0.78 (0.581.08)
27 obs / 34.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.77 (0.831.95)
00.351.4
Missense OE?0.78 (0.581.08)
00.61.4
Synonymous OE?0.81
01.21.6
LoF obs/exp: 6 / 3.4Missense obs/exp: 27 / 34.5Syn Z: 0.53

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MT2A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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