RASA2

Chr 3

RAS p21 protein activator 2

Also known as: GAP1M

The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

GeneReviewsOMIMResearchGenerating clinical summary…

Clinical highlights

Gene–disease validity (ClinGen)
not for standalone diagnostic reporting
0
Active trials
17
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.20
LOEUF
—
Mechanism
📖
GeneReview available — RASA2
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?
1.20LOEUF
pLI 0.000
Z-score 0.39
OE 0.94 (0.74–1.20)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.88Z-score
OE missense 0.74 (0.67–0.81)
309 obs / 416.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.94 (0.74–1.20)
0≤0.351.4
Missense OE?0.74 (0.67–0.81)
0≤0.61.4
Synonymous OE?1.06
0≤1.21.6
LoF obs/exp: 48 / 51.0Missense obs/exp: 309 / 416.9Syn Z: -0.54

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RASA2 · 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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