SH3BGRL2

Chr 6

SH3 domain binding glutamate rich protein like 2

NCBI Gene: 83699ENSG00000198478UniProt: Q9UJC5

Predicted to enable protein-macromolecule adaptor activity. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.91
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.91LOEUF
pLI 0.000
Z-score -0.89
OE 1.38 (0.80–1.91)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.01Z-score
OE missense 1.00 (0.81–1.24)
57 obs / 57.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.38 (0.80–1.91)
0≤0.351.4
Missense OE?1.00 (0.81–1.24)
0≤0.61.4
Synonymous OE?0.87
0≤1.21.6
LoF obs/exp: 9 / 6.5Missense obs/exp: 57 / 57.2Syn Z: 0.48

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SH3BGRL2 · 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