PCDH7

Chr 4

protocadherin 7

Also known as: BH-Pcdh, BHPCDH, PPP1R120

NCBI Gene: 5099ENSG00000169851UniProt: O60245OMIM: 602988

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a protein with an extracellular domain containing 7 cadherin repeats. The gene product is an integral membrane protein that is thought to function in cell-cell recognition and adhesion. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008]

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.
1
Active trials
30
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.42
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.42LOEUF
pLI 0.395
Z-score 4.02
OE 0.22 (0.13–0.42)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.95Z-score
OE missense 0.79 (0.74–0.85)
548 obs / 692.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.22 (0.13–0.42)
0≤0.351.4
Missense OE?0.79 (0.74–0.85)
0≤0.61.4
Synonymous OE?1.06
0≤1.21.6
LoF obs/exp: 7 / 31.3Missense obs/exp: 548 / 692.4Syn Z: -0.81

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PCDH7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

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