ARHGAP24

Chr 4

Rho GTPase activating protein 24

Also known as: FILGAP, RC-GAP72, RCGAP72, p73, p73RhoGAP

NCBI Gene: 83478ENSG00000138639UniProt: Q8N264OMIM: 610586

This gene encodes a Rho-GTPase activating protein, which is specific for the small GTPase family member Rac. Binding of the encoded protein by filamin A targets it to sites of membrane protrusion, where it antognizes Rac. This results in suppression of lamellae formation and promotion of retraction to regulate cell polarity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

OMIMResearchGenerating clinical summary…
0
Active trials
13
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.83
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.83LOEUF
pLI 0.000
Z-score 2.35
OE 0.58 (0.41–0.83)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.15Z-score
OE missense 0.98 (0.90–1.06)
397 obs / 405.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.58 (0.41–0.83)
0≤0.351.4
Missense OE?0.98 (0.90–1.06)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 21 / 36.3Missense obs/exp: 397 / 405.7Syn Z: -0.45

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ARHGAP24 · 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