RACGAP1

Chr 12

Rac GTPase activating protein 1

Also known as: CDAN3B, CYK4, HsCYK-4, ID-GAP, MgcRacGAP, RCGAP1

NCBI Gene: 29127ENSG00000161800UniProt: Q9H0H5

This gene encodes a GTPase-activating protein (GAP) that is a compoment of the centralspindlin complex. This protein binds activated forms of Rho GTPases and stimulates GTP hydrolysis, which results in negative regulation of Rho-mediated signals. This protein plays a regulatory role in cytokinesis, cell growth, and differentiation. Alternatively spliced transcript variants have been found for this gene. There is a pseudogene for this gene on chromosome 12. [provided by RefSeq, Feb 2016]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAnemia, congenital dyserythropoietic, 3B, autosomal recessive

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
45
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.52
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.52LOEUF
pLI 0.002
Z-score 3.85
OE 0.32 (0.20–0.52)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.01Z-score
OE missense 0.70 (0.63–0.78)
248 obs / 354.3 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.32 (0.20–0.52)
0≤0.351.4
Missense OE?0.70 (0.63–0.78)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 12 / 37.4Missense obs/exp: 248 / 354.3Syn Z: 0.35

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RACGAP1 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients