SH2D2A

Chr 1

SH2 domain containing 2A

Also known as: F2771, TSAD, VRAP

NCBI Gene: 9047ENSG00000027869UniProt: Q9NP31

This gene encodes an adaptor protein thought to function in T-cell signal transduction. A related protein in mouse is responsible for the activation of lymphocyte-specific protein-tyrosine kinase and functions in downstream signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.09
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?
1.09LOEUF
pLI 0.000
Z-score 1.27
OE 0.68 (0.43–1.09)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.48Z-score
OE missense 0.91 (0.81–1.02)
200 obs / 220.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.68 (0.43–1.09)
0≤0.351.4
Missense OE?0.91 (0.81–1.02)
0≤0.61.4
Synonymous OE?0.86
0≤1.21.6
LoF obs/exp: 12 / 17.8Missense obs/exp: 200 / 220.2Syn Z: 1.04

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SH2D2A · 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