GAS2

Chr 11

growth arrest specific 2

Also known as: DFNB125, GAS-2

The protein encoded by this gene is a caspase-3 substrate that plays a role in regulating microfilament and cell shape changes during apoptosis. It can also modulate cell susceptibility to p53-dependent apoptosis by inhibiting calpain activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2017]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDeafness, autosomal recessive, 125
0
Active trials
12
Pubs (1 yr)
P/LP submissions
P/LP missense
0.81
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — GAS2
Authoritative clinical overview · Recommended first read
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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?
0.81LOEUF
pLI 0.001
Z-score 2.15
OE 0.45 (0.260.81)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.44Z-score
OE missense 0.91 (0.791.03)
154 obs / 170.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.45 (0.260.81)
00.351.4
Missense OE?0.91 (0.791.03)
00.61.4
Synonymous OE?0.97
01.21.6
LoF obs/exp: 8 / 17.8Missense obs/exp: 154 / 170.2Syn Z: 0.16

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

GAS2 · 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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