PCP4

Chr 21

Purkinje cell protein 4

Also known as: PEP-19

NCBI Gene: 5121ENSG00000183036UniProt: P48539

Enables calcium ion binding activity and calmodulin binding activity. Involved in positive regulation of CAMKK-AMPK signaling cascade and positive regulation of neuron differentiation. Located in cytosol and nucleus. Part of protein-containing complex. Biomarker of Huntington's disease and leiomyoma. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
21
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.77
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?
1.77LOEUF
pLI 0.002
Z-score 0.20
OE 0.90 (0.43–1.77)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.61Z-score
OE missense 0.70 (0.51–0.99)
24 obs / 34.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.90 (0.43–1.77)
0≤0.351.4
Missense OE?0.70 (0.51–0.99)
0≤0.61.4
Synonymous OE?0.75
0≤1.21.6
LoF obs/exp: 4 / 4.5Missense obs/exp: 24 / 34.1Syn Z: 0.63

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

PCP4 · 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