RGL2

Chr 6

ral guanine nucleotide dissociation stimulator like 2

ENSG00000237441UniProt: O15211

Probable guanine nucleotide exchange factor. Putative effector of Ras and/or Rap. Associates with the GTP-bound form of Rap 1A and H-Ras in vitro (By similarity)

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
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.45
LOEUF
GOF
Mechanism· predicted
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.45LOEUF
pLI 0.027
Z-score 4.29
OE 0.27 (0.17–0.45)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.97Z-score
OE missense 0.75 (0.68–0.81)
351 obs / 471.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.27 (0.17–0.45)
0≤0.351.4
Missense OE?0.75 (0.68–0.81)
0≤0.61.4
Synonymous OE?0.73
0≤1.21.6
LoF obs/exp: 11 / 40.5Missense obs/exp: 351 / 471.1Syn Z: 2.98

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

RGL2 · 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