TCP11

Chr 6

t-complex 11

ENSG00000124678UniProt: Q8WWU5

Plays a role in the process of sperm capacitation and acrosome reactions. Probable receptor for the putative fertilization-promoting peptide (FPP) at the sperm membrane that may modulate the activity of the adenylyl cyclase cAMP pathway

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.04
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

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?
1.04LOEUF
pLI 0.000
Z-score 1.41
OE 0.67 (0.44–1.04)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.87Z-score
OE missense 0.85 (0.76–0.95)
231 obs / 271.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.67 (0.44–1.04)
0≤0.351.4
Missense OE?0.85 (0.76–0.95)
0≤0.61.4
Synonymous OE?0.86
0≤1.21.6
LoF obs/exp: 14 / 21.0Missense obs/exp: 231 / 271.4Syn Z: 1.16

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

TCP11 · 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