Gene Gene information from NCBI Gene database.
Entrez ID 5567
Gene name Protein kinase cAMP-activated catalytic subunit beta
Gene symbol PRKACB
Synonyms (NCBI Gene)
CAFD2PKA C-betaPKACB
Chromosome 1
Chromosome location 1p31.1
Summary The protein encoded by this gene is a member of the serine/threonine protein kinase family. The encoded protein is a catalytic subunit of cAMP (cyclic AMP)-dependent protein kinase, which mediates signalling though cAMP. cAMP signaling is important to a n
miRNA miRNA information provided by mirtarbase database.
461
miRTarBase ID miRNA Experiments Reference
MIRT006806 hsa-miR-23b-3p Luciferase reporter assayqRT-PCR 22449550
MIRT027986 hsa-miR-93-5p Sequencing 20371350
MIRT031110 hsa-miR-19b-3p Sequencing 20371350
MIRT006806 hsa-miR-23b-3p Luciferase reporter assayImmunocytochemistryWestern blot 24916040
MIRT080186 hsa-miR-372-3p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IDA 12420224
GO:0000287 Function Magnesium ion binding IEA
GO:0001843 Process Neural tube closure IEA
GO:0003091 Process Renal water homeostasis TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
176892 9381 ENSG00000142875
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P22694
Protein name cAMP-dependent protein kinase catalytic subunit beta (PKA C-beta) (EC 2.7.11.11)
Protein function Mediates cAMP-dependent signaling triggered by receptor binding to GPCRs (PubMed:12420224, PubMed:21423175, PubMed:31112131). PKA activation regulates diverse cellular processes such as cell proliferation, the cell cycle, differentiation and reg
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 44 298 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 1 is most abundant in the brain, with low level expression in kidney. Isoform 2 is predominantly expressed in thymus, spleen and kidney. Isoform 3 and isoform 4 are only expressed in the brain. {ECO:0000269|PubMed:11589697}.
Sequence
Sequence length 351
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
8
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardioacrofacial dysplasia 2 Pathogenic rs768056300, rs1670492319, rs1663748771, rs748898273 RCV002471543
RCV001271115
RCV001271116
RCV001271117
RCV001271118
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
PRKACB-related disorder Uncertain significance rs764442698 RCV003412303
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acquired ichthyosis Associate 36303457
ACTH Secreting Pituitary Adenoma Associate 29669941
Adenocarcinoma Associate 36829221
Adenoma Associate 29669941
Adrenal Gland Neoplasms Associate 29669941
Alzheimer Disease Associate 29851783
Amebiasis Associate 28765971
Anencephaly Associate 24294386
Aphakia congenital primary Associate 29669941
Bile Duct Diseases Associate 31678302