Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5583
Gene name Gene Name - the full gene name approved by the HGNC.
Protein kinase C eta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PRKCH
Synonyms (NCBI Gene) Gene synonyms aliases
PKC-L, PKCL, PRKCL, nPKC-eta, uORF2
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q23.1
Summary Summary of gene provided in NCBI Entrez Gene.
Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs2230500 G>A Risk-factor Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT723319 hsa-miR-216b-5p HITS-CLIP 19536157
MIRT723318 hsa-miR-3675-3p HITS-CLIP 19536157
MIRT723317 hsa-miR-3938 HITS-CLIP 19536157
MIRT723316 hsa-miR-3690 HITS-CLIP 19536157
MIRT723315 hsa-miR-4254 HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IDA 34593629
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IBA
GO:0004674 Function Protein serine/threonine kinase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605437 9403 ENSG00000027075
Protein
UniProt ID P24723
Protein name Protein kinase C eta type (EC 2.7.11.13) (PKC-L) (nPKC-eta)
Protein function Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that is involved in the regulation of cell differentiation in keratinocytes and pre-B cell receptor, mediates regulation of epithelial tight ju
PDB 2FK9 , 3TXO , 8FP1 , 8FP3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00168 C2 10 124 C2 domain Domain
PF00130 C1_1 172 225 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
PF00130 C1_1 246 298 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
PF00069 Pkinase 355 614 Protein kinase domain Domain
PF00433 Pkinase_C 635 676 Protein kinase C terminal domain Family
Tissue specificity TISSUE SPECIFICITY: Most abundant in lung, less in heart and skin. {ECO:0000269|PubMed:1986216}.
Sequence
Sequence length 683
UniProt ID C0HM02
Protein name PRKCH upstream open reading frame 2 (uORF2) (Protein uPEP2)
Protein function Product of an upstream open reading frame (ORF) of PRKCH which regulates translation of the downstream protein kinase C eta (PKC-eta) ORF (PubMed:19797084, PubMed:34593629). Functions as a repressive element that maintains low basal levels of PK
Family and domains
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Vascular smooth muscle contraction
Inflammatory mediator regulation of TRP channels
  Effects of PIP2 hydrolysis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma N/A N/A GWAS
Cerebral Infarction Cerebral infarction, susceptibility to N/A N/A ClinVar
Myocardial Infarction Myocardial infarction N/A N/A GWAS
Prostate cancer Prostate cancer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 33797837, 40591711
Amelogenesis imperfecta hypoplastic hypomaturation X linked 1 Associate 37563801
Arthritis Rheumatoid Associate 17195206, 31875586
Astrocytoma Associate 10806212
Carcinoma Adenoid Cystic Associate 27351203
Carcinoma Hepatocellular Associate 31215439
Cerebral Hemorrhage Associate 22808203
Cerebral Infarction Associate 22808203, 24664524, 25900926
Essential Hypertension Associate 28640647
Fibrosis Associate 33860118