ARHGEF25

Chr 12

Rho guanine nucleotide exchange factor 25

Also known as: GEFT, p63RhoGEF

NCBI Gene: 115557ENSG00000240771UniProt: Q86VW2OMIM: 610215

Rho GTPases alternate between an inactive GDP-bound state and an active GTP-bound state, and GEFs facilitate GDP/GTP exchange. This gene encodes a guanine nucleotide exchange factor (GEF) which interacts with Rho GTPases involved in contraction of vascular smooth muscles, regulation of responses to angiotensin II and lens cell differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

OMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.85
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.85LOEUF
pLI 0.000
Z-score 2.26
OE 0.59 (0.42–0.85)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.93Z-score
OE missense 0.86 (0.78–0.95)
302 obs / 351.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.59 (0.42–0.85)
0≤0.351.4
Missense OE?0.86 (0.78–0.95)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 21 / 35.5Missense obs/exp: 302 / 351.2Syn Z: 0.37

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ARHGEF25 · 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