PRKCG Gene - Protein Kinase C Gamma
A key regulator of neuronal signaling and cerebellar function, associated with spinocerebellar ataxia type 14 (SCA14).
Gene Information Card
| Symbol | PRKCG |
|---|---|
| Full Name | Protein Kinase C Gamma |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 5582 ncbi.nlm.nih.gov/gene/5582 |
| Ensembl ID | ENSG00000126583 |
| UniProt ID | P05129 |
| OMIM ID | 176980 |
| HGNC ID | 9402 |
| Aliases | PKC-gamma, PKCC, SCA14 |
Description
PRKCG encodes protein kinase C gamma (PKCγ), a member of the conventional protein kinase C family that is predominantly expressed in the brain, particularly in the cerebellum and hippocampus. PKCγ is a serine/threonine kinase that plays a critical role in neuronal signal transduction, synaptic plasticity, and long-term potentiation. Mutations in PRKCG are associated with spinocerebellar ataxia type 14 (SCA14), a neurodegenerative disorder characterized by progressive cerebellar ataxia and Purkinje cell loss.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia type 14 (SCA14) | Missense mutations in PRKCG lead to altered kinase activity, protein aggregation, and impaired Purkinje cell function, resulting in progressive cerebellar degeneration. | ClinVar, OMIM |
| Episodic ataxia type 2 (EA2) | Rare PRKCG variants have been reported in patients with episodic ataxia, though CACNA1A is the primary gene. | ClinVar |
| Cancer (various) | PRKCG overexpression or aberrant activation has been implicated in tumorigenesis, including glioblastoma and melanoma, via dysregulated cell proliferation and survival pathways. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebellum | 48.2 | High |
| Hippocampus | 35.1 | High |
| Cerebral cortex | 22.7 | Medium |
| Spinal cord | 15.3 | Medium |
| Testis | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 32.5 | Neuronal model |
| U-87 MG (glioblastoma) | 18.9 | High expression |
| HEK293 (embryonic kidney) | 2.1 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245G>A (p.Arg82His) | Missense | Rare | Reduced kinase activity; associated with SCA14 |
| c.355C>T (p.Pro119Ser) | Missense | Rare | Altered protein stability; SCA14 |
| c.1015C>T (p.Arg339Trp) | Missense | Rare | Dominant-negative effect; SCA14 |
| c.1276G>A (p.Gly426Arg) | Missense | Rare | Gain-of-function; SCA14 |
Mutation functional classification
Loss of Function (LOF)
Some SCA14 mutations (e.g., p.Arg82His) reduce PKCγ kinase activity, impairing neuronal signaling.
Gain of Function (GOF)
Mutations like p.Gly426Arg increase kinase activity, leading to aberrant phosphorylation and Purkinje cell toxicity.
Dominant Negative (DN)
p.Arg339Trp acts as a dominant-negative mutant, interfering with wild-type PKCγ function and promoting aggregation.
View complete mutation data：
Gene Ontology (GO)
Pathways
• hsa04720: Long-term potentiation
• hsa04724: Glutamatergic synapse
• hsa04010: MAPK signaling pathway
• hsa04020: Calcium signaling pathway
Protein Summary
Protein kinase C gamma (PKCγ) is a 697-amino acid serine/threonine kinase with a regulatory domain containing C1 (diacylglycerol-binding) and C2 (calcium-binding) regions, and a catalytic domain. It is activated by calcium and diacylglycerol, and phosphorylates multiple substrates involved in synaptic transmission and plasticity. PKCγ is highly expressed in cerebellar Purkinje cells, where it modulates dendritic development and motor coordination. Mutations in PRKCG disrupt these functions, leading to SCA14.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRKCG Knockout HEK293 Cell Line | EDJ-KQ739 | Human | 5582 | Details Get a Quote |
| PRKCG Knockout A-549 Cell Line | EDJ-KQ19378 | Human | 5582 | Details Get a Quote |
| PRKCG Knockout HCT 116 Cell Line | EDJ-KQ19379 | Human | 5582 | Details Get a Quote |
| PRKCG Knockout HeLa Cell Line | EDJ-KQ54211 | Human | 5582 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
