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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cardioacrofacial dysplasia 2 Pathogenic rs768056300, rs1670492319, rs1663748771, rs748898273 RCV002471543
RCV001271115
RCV001271116
RCV001271117
RCV001271118
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BILIARY TRACT NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHOLANGIOCARCINOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CUSHING SYNDROME CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromegaly Acromegaly BEFREE 25225481
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 29669941
★☆☆☆☆
Found in Text Mining only
Adrenal Cortical Adenoma Adrenocortical adenoma BEFREE 25225481
★☆☆☆☆
Found in Text Mining only
Adrenal Cortical Adenoma Adrenocortical adenoma CTD_human_DG 29669941
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Neoplasms Adrenal neoplasia BEFREE 29669941
★☆☆☆☆
Found in Text Mining only
Adrenal hyperplasia Adrenal hyperplasia BEFREE 26130139
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 29851783 Associate
★☆☆☆☆
Found in Text Mining only
Anencephaly Anencephaly BEFREE 24294386
★☆☆☆☆
Found in Text Mining only
Anencephaly Anencephaly Pubtator 24294386 Associate
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 31678302
★☆☆☆☆
Found in Text Mining only