SH2D4B

Chr 10

SH2 domain containing 4B

NCBI Gene: 387694ENSG00000178217UniProt: Q5SQS7

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

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.86
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.86LOEUF
pLI 0.000
Z-score 2.06
OE 0.53 (0.34–0.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.10Z-score
OE missense 0.98 (0.88–1.10)
207 obs / 210.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.53 (0.34–0.86)
0≤0.351.4
Missense OE?0.98 (0.88–1.10)
0≤0.61.4
Synonymous OE?0.85
0≤1.21.6
LoF obs/exp: 12 / 22.5Missense obs/exp: 207 / 210.9Syn Z: 1.04

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SH2D4B · 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