Gene Gene information from NCBI Gene database.
Entrez ID 5579
Gene name Protein kinase C beta
Gene symbol PRKCB
Synonyms (NCBI Gene)
PKC-betaPKCBPKCI(2)PKCbetaPRKCB1PRKCB2
Chromosome 16
Chromosome location 16p12.2-p12.1
Summary Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in d
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1131692056 G>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
226
miRTarBase ID miRNA Experiments Reference
MIRT022275 hsa-miR-124-3p Microarray 18668037
MIRT718805 hsa-miR-4778-3p HITS-CLIP 19536157
MIRT654742 hsa-miR-627-3p HITS-CLIP 19536157
MIRT718804 hsa-miR-6875-3p HITS-CLIP 19536157
MIRT718803 hsa-miR-4659a-3p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
MITF Unknown 16411896
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
79
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002250 Process Adaptive immune response IEA
GO:0002376 Process Immune system process IEA
GO:0003682 Function Chromatin binding IDA 20228790
GO:0003713 Function Transcription coactivator activity IMP 20228790
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
176970 9395 ENSG00000166501
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P05771
Protein name Protein kinase C beta type (PKC-B) (PKC-beta) (EC 2.7.11.13)
Protein function Calcium-activated, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase involved in various cellular processes such as regulation of the B-cell receptor (BCR) signalosome, oxidative stress-induced apoptosis, androgen
PDB 2I0E , 8SG2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00130 C1_1 37 89 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
PF00130 C1_1 102 154 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
PF00168 C2 171 277 C2 domain Domain
PF00069 Pkinase 342 600 Protein kinase domain Domain
PF00433 Pkinase_C 622 662 Protein kinase C terminal domain Family
Sequence
Sequence length 671
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
9
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Progressive sensorineural hearing impairment Pathogenic rs1131692056 RCV000495853
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
PRKCB-related disorder Conflicting classifications of pathogenicity; Likely benign; Benign rs149128755, rs778710250, rs72154122, rs147975795, rs772098050, rs114856527, rs3729896, rs114192994 RCV003427732
RCV003961769
RCV003972083
RCV003961425
RCV003932292
RCV003942213
RCV003976402
RCV003955844
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 21997316
Adenocarcinoma of Lung Associate 24369052, 30587197, 35567329
Alzheimer Disease Associate 22982105, 26510741
Alzheimer Disease Stimulate 24334724
Alzheimer Disease Inhibit 33186918
Arthritis Psoriatic Inhibit 7547380
Attention Deficit Disorder with Hyperactivity Associate 30153408
Autism Spectrum Disorder Associate 34562210
Autistic Disorder Associate 30153408, 34562210
Bipolar Disorder Associate 30153408