PCDH10

Chr 4

protocadherin 10

Also known as: OL-PCDH

NCBI Gene: 57575ENSG00000138650UniProt: Q9P2E7OMIM: 608286

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This family member contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein is a cadherin-related neuronal receptor thought to function in the establishment of specific cell-cell connections in the brain. This gene plays a role in inhibiting cancer cell motility and cell migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
21
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.35
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.35LOEUF
pLI 0.891
Z-score 4.41
OE 0.18 (0.10–0.35)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.08Z-score
OE missense 0.87 (0.81–0.94)
520 obs / 594.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.18 (0.10–0.35)
0≤0.351.4
Missense OE?0.87 (0.81–0.94)
0≤0.61.4
Synonymous OE?1.11
0≤1.21.6
LoF obs/exp: 6 / 33.6Missense obs/exp: 520 / 594.3Syn Z: -1.37

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PCDH10 · 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