WASHC2A

Chr 10

WASH complex subunit 2A

Also known as: FAM21A, FAM21B, bA56A21.1, bA98I6.1

NCBI Gene: 387680ENSG00000099290UniProt: Q641Q2

Predicted to enable phosphatidylinositol phosphate binding activity and retromer complex binding activity. Involved in protein localization to endosome. Predicted to be located in early endosome membrane. Predicted to be part of WASH complex. Predicted to be active in early endosome. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.76
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.76LOEUF
pLI 0.000
Z-score 2.39
OE 0.43 (0.26–0.76)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.66Z-score
OE missense 0.88 (0.79–0.99)
210 obs / 238.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.43 (0.26–0.76)
0≤0.351.4
Missense OE?0.88 (0.79–0.99)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 9 / 20.7Missense obs/exp: 210 / 238.6Syn Z: 0.71

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

WASHC2A · 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