RASA2

Chr 3

RAS p21 protein activator 2

Also known as: GAP1M

NCBI Gene: 5922 ENSG00000155903 UniProt: Q15283

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]

GeneReviews Research

GeneReviews ResearchGenerating clinical summary…

LOEUF 1.20

Clinical Summary— RASA2

🧬

Gene-Disease Validity (ClinGen)

Noonan syndrome · ADLimited

Limited evidence — not for standalone diagnostic reporting

⚡

Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

📋

ClinVar Variants

1 unique Pathogenic / Likely Pathogenic· 511 VUS of 934 total submissions

Explore recent and relevant literature in Research Assistant →

📖

GeneReview available — RASA2

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

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

934 submitted variants in ClinVar

ClinVar

Classification Summary

Likely Pathogenic1

VUS511

Likely Benign341

Benign42

Conflicting17

Likely Pathogenic

511

VUS

341

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0	0
Likely Pathogenic	0	1	0	0	1
VUS	56	417	34	4	511
Likely Benign	0	5	153	183	341
Benign	0	1	39	2	42
Conflicting	—				17
Total	56	424	226	189	912

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

21 pathogenic / likely-pathogenic (of 22) ClinVar copy-number / structural variants overlap RASA2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →