G2Cdb::Gene report
- Gene id
- G00002481
- Gene symbol
- PRKCG (HGNC)
- Species
- Homo sapiens
- Description
- protein kinase C, gamma
- Orthologue
- G00001232 (Mus musculus)
Databases (8)
- Curated Gene
- OTTHUMG00000064846 (Vega human gene)
- Gene
- ENSG00000126583 (Ensembl human gene)
- 5582 (Entrez Gene)
- 74 (G2Cdb plasticity & disease)
- PRKCG (GeneCards)
- Literature
- 176980 (OMIM)
- Marker Symbol
- HGNC:9402 (HGNC)
- Protein Sequence
- P05129 (UniProt)
Synonyms (2)
- MGC57564
- PKCC
Diseases (8)
| Disease | Nervous effect | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| D00000190: Spinocerebellar ataxia type 14 | Y | Y | (15313841) | Single nucleotide polymorphism (SNP) | Y |
| D00000190: Spinocerebellar ataxia type 14 | Y | Y | (14676051) | Microinsertion (MI) | Y |
| D00000190: Spinocerebellar ataxia type 14 | Y | Y | (16189624) | Microinsertion (MI) | Y |
| D00000186: Cerebellar ataxia (dominant non-episodic) | Y | Y | (12644968) | Microinsertion (MI) | Y |
| D00000185: Cerebellar ataxia (autosomal dominant) | Y | Y | (14694043) | Single nucleotide polymorphism (SNP) | Y |
| D00000185: Cerebellar ataxia (autosomal dominant) | Y | Y | (16547918) | Microinsertion (MI) | Y |
| D00000300: Peutz-Jeghers syndrome | N | Y | (12438709) | No mutation found (N) | N |
| D00000224: Retinitis pigmentosa | N | Y | (10441600) | No mutation found (N) | N |
| D00000122: Pyruvate kinase deficiency | N | Y | (15870493) | Unknown (?) | Y |
| D00000121: Chronic nonspherocytic haemolytic anaemia | N | Y | (15870173) | Null (Null) | Y |
| D00000125: Haemolytic anaemia | N | Y | (15642665) | Microinsertion (MI) | Y |
| D00000125: Haemolytic anaemia | N | Y | (15642665) | Deletion (D) | Y |
References
Literature (128)
Pubmed - human_disease
Pubmed - other
Gene lists (8)
| Gene List | Source | Species | Name | Description | Gene count |
|---|---|---|---|---|---|
| L00000009 | G2C | Homo sapiens | Human PSD | Human orthologues of mouse PSD adapted from Collins et al (2006) | 1080 |
| L00000015 | G2C | Homo sapiens | Human NRC | Human orthologues of mouse NRC adapted from Collins et al (2006) | 186 |
| L00000016 | G2C | Homo sapiens | Human PSP | Human orthologues of mouse PSP adapted from Collins et al (2006) | 1121 |
| L00000040 | G2C | Homo sapiens | Pocklington H9 | Human orthologues of cluster 9 (mouse) from Pocklington et al (2006) | 6 |
| L00000059 | G2C | Homo sapiens | BAYES-COLLINS-HUMAN-PSD-CONSENSUS | Human cortex PSD consensus | 748 |
| L00000061 | G2C | Homo sapiens | BAYES-COLLINS-MOUSE-PSD-CONSENSUS | Mouse cortex PSD consensus (ortho) | 984 |
| L00000069 | G2C | Homo sapiens | BAYES-COLLINS-HUMAN-PSD-FULL | Human cortex biopsy PSD full list | 1461 |
| L00000071 | G2C | Homo sapiens | BAYES-COLLINS-MOUSE-PSD-FULL | Mouse cortex PSD full list (ortho) | 1556 |