ENKUR

Chr 10

enkurin, TRPC channel interacting protein

Also known as: C10orf63, CFAP106

NCBI Gene: 219670ENSG00000151023UniProt: Q8TC29

This gene encodes a protein that interacts with calmodulin and several transient receptor potential canonical cation channel proteins. The encoded protein may function as an adaptor to localize signal transduction machinery to calcium channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

ResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.20
LOEUF
DN
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?
1.20LOEUF
pLI 0.000
Z-score 1.08
OE 0.67 (0.39–1.20)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.02Z-score
OE missense 1.01 (0.88–1.16)
140 obs / 139.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.67 (0.39–1.20)
0≤0.351.4
Missense OE?1.01 (0.88–1.16)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 8 / 12.0Missense obs/exp: 140 / 139.3Syn Z: -0.42

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ENKUR · 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