DCST2

Chr 1

DC-STAMP domain containing 2

Also known as: SPE42

NCBI Gene: 127579ENSG00000163354UniProt: Q5T1A1

Predicted to be involved in fusion of sperm to egg plasma membrane involved in single fertilization and sperm-egg recognition. Predicted to be located in acrosomal membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.88
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?
0.88LOEUF
pLI 0.000
Z-score 2.16
OE 0.63 (0.46–0.88)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.13Z-score
OE missense 1.02 (0.94–1.10)
474 obs / 465.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.63 (0.46–0.88)
0≤0.351.4
Missense OE?1.02 (0.94–1.10)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 25 / 39.7Missense obs/exp: 474 / 465.9Syn Z: 0.34

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DCST2 · 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