ARHGAP8

Chr 22

Rho GTPase activating protein 8

Also known as: BPGAP1, PP610

This gene encodes a member of the RHOGAP family. GAP (GTPase-activating) family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. GAP proteins alternate between an active (GTP-bound) and inactive (GDP-bound) state based on the GTP:GDP ratio in the cell. This family member is a multidomain protein that functions to promote Erk activation and cell motility. Alternative splicing results in multiple transcript variants. Read-through transcripts from the upstream proline rich 5, renal (PRR5) gene into this gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
1.75
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.75LOEUF
pLI 0.000
Z-score -1.62
OE 1.34 (1.021.75)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-4.19Z-score
OE missense 1.64 (1.531.75)
562 obs / 343.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.34 (1.021.75)
00.351.4
Missense OE?1.64 (1.531.75)
00.61.4
Synonymous OE?1.63
01.21.6
LoF obs/exp: 36 / 26.9Missense obs/exp: 562 / 343.6Syn Z: -6.17

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ARHGAP8 · 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.

Search ClinicalTrials.gov →