ARAP2

Chr 4

ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2

Also known as: CENTD1, PARX

NCBI Gene: 116984ENSG00000047365UniProt: Q8WZ64OMIM: 606645

The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. The protein is a phosphatidylinositol (3,4,5)-trisphosphate-dependent Arf6 GAP that binds RhoA-GTP, but it lacks the predicted catalytic arginine in the RHO-GAP domain and does not have RHO-GAP activity. The protein associates with focal adhesions and functions downstream of RhoA to regulate focal adhesion dynamics. [provided by RefSeq, Sep 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.56
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.56LOEUF
pLI 0.000
Z-score 4.99
OE 0.43 (0.33–0.56)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
-0.82Z-score
OE missense 1.08 (1.02–1.14)
923 obs / 855.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.43 (0.33–0.56)
0≤0.351.4
Missense OE?1.08 (1.02–1.14)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 38 / 88.7Missense obs/exp: 923 / 855.5Syn Z: -0.48

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ARAP2 · 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