RALGPS2

Chr 1

Ral GEF with PH domain and SH3 binding motif 2

Also known as: dJ595C2.1

NCBI Gene: 55103ENSG00000116191UniProt: Q86X27

Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in Ras protein signal transduction. Predicted to be located in cytoplasm. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…

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
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.41
LOEUF
—
Mechanism
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?
0.41LOEUF
pLI 0.262
Z-score 4.40
OE 0.23 (0.14–0.41)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.14Z-score
OE missense 0.66 (0.58–0.74)
200 obs / 305.1 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.23 (0.14–0.41)
0≤0.351.4
Missense OE?0.66 (0.58–0.74)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 9 / 38.5Missense obs/exp: 200 / 305.1Syn Z: 0.56

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RALGPS2 · 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