TRPM2

Chr 21

transient receptor potential cation channel subfamily M member 2

Also known as: EREG1, KNP3, LTRPC2, LTrpC-2, NUDT9H, NUDT9L1, TRPC7

The protein encoded by this gene forms a tetrameric cation channel that is permeable to calcium, sodium, and potassium and is regulated by free intracellular ADP-ribose. The encoded protein is activated by oxidative stress and confers susceptibility to cell death. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. Additional transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2016]

GeneReviewsOMIMResearchGenerating clinical summary…
3
Active trials
150
Pubs (1 yr)
P/LP submissions
P/LP missense
1.11
LOEUF
GOF
Mechanism· predicted
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GeneReview available — TRPM2
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.11LOEUF
pLI 0.000
Z-score 0.72
OE 0.91 (0.751.11)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.33Z-score
OE missense 1.03 (0.981.09)
988 obs / 958.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.91 (0.751.11)
00.351.4
Missense OE?1.03 (0.981.09)
00.61.4
Synonymous OE?1.20
01.21.6
LoF obs/exp: 70 / 76.8Missense obs/exp: 988 / 958.8Syn Z: -3.29

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TRPM2 · protein map & ClinVar variants

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