PRKACB protein kinase cAMP-activated catalytic subunit beta
Gene ID: 5567, updated on 5-Mar-2024Gene type: protein coding
Also known as: CAFD2; PKACB; PKA C-beta
- See all available tests in GTR for this gene
- Go to complete Gene record for PRKACB
- Go to Variation Viewer for PRKACB variants
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 number of processes, including cell proliferaton and differentiation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2014]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Cardioacrofacial dysplasia 2 | See labs |
Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk. GeneReviews: Not available |
Genomic context
- Location:
- 1p31.1
- Sequence:
- Chromosome: 1; NC_000001.11 (84078079..84238498)
- Total number of exons:
- 20
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for PRKACB variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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