PRKCG

Chr 19AD

protein kinase C gamma

Also known as: PKC-gamma, PKCC, PKCG, PKCI(3), PKCgamma, SCA14

NCBI Gene: 5582ENSG00000126583UniProt: P05129OMIM: 176980

The protein kinase C gamma (PRKCG) encodes a brain-specific serine/threonine kinase that regulates neuronal receptors, synaptic plasticity, and cerebellar development through phosphorylation of key targets including glutamate receptors and p53. Mutations cause spinocerebellar ataxia 14 (SCA14), a progressive cerebellar degenerative disorder with autosomal dominant inheritance. PRKCG is highly constrained against loss-of-function mutations (pLI 0.999, LOEUF 0.203), reflecting its critical role in neuronal function.

OMIMResearchSummary from RefSeq, OMIM, UniProt
ADLOEUF 0.201 OMIM phenotype
Clinical Summary— PRKCG
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.20LOEUF
pLI 1.000
Z-score 5.28
OE 0.08 (0.04–0.20)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
3.06Z-score
OE missense 0.58 (0.52–0.64)
238 obs / 413.0 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.08 (0.04–0.20)
0≤0.351.4
Missense OE0.58 (0.52–0.64)
0≤0.61.4
Synonymous OE1.03
0≤1.21.6
LoF obs/exp: 3 / 38.3Missense obs/exp: 238 / 413.0Syn Z: -0.34

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRKCG · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Integrative transcriptome-wide association analyses reveal PRKCG-linked GABAergic dysfunction in Fragile X-associated tremor/ataxia syndrome.
Jin Y et al.·Nat Commun
2026Open Access
Comprehensive profiling of Aβ40 and Aβ42 fibril-interacting proteins reveals PRKCG as a drug-targetable regulator of amyloidogenesis in Alzheimer's disease.
Montero-Calle A et al.·Alzheimers Dement
2026Open Access
β-Mangostin Attenuates TET2-Mediated DNA Demethylation of Prkcg in the Prevention of Intervertebral Disc Degeneration.
Kong X et al.·Adv Sci (Weinh)
2025Open Access
Pathogenicity analysis of three SCA14-associated missense mutations in PRKCG gene of Chinese patients with ataxia.
Yuan H et al.·Gene
2025Cohort
Genetic Variants at PRKCG Splice and UTR Sites Promote Cancer Susceptibility by Disrupting Epigenetic and miRNA Regulatory Network.
Abid F et al.·J Cancer
2024Open Access
Top 5 resultsSearch Europe PMC ↗

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