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
© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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