PRKAR2B protein kinase cAMP-dependent type II regulatory subunit beta
Gene ID: 5577, updated on 14-Nov-2024Gene type: protein coding
Also known as: PRKAR2; RII-BETA
- See all available tests in GTR for this gene
- Go to complete Gene record for PRKAR2B
- Go to Variation Viewer for PRKAR2B variants
Summary
cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. This subunit has been shown to interact with and suppress the transcriptional activity of the cAMP responsive element binding protein 1 (CREB1) in activated T cells. Knockout studies in mice suggest that this subunit may play an important role in regulating energy balance and adiposity. The studies also suggest that this subunit may mediate the gene induction and cataleptic behavior induced by haloperidol. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genome-wide interaction study of smoking and bladder cancer risk. GeneReviews: Not available | |
Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions. GeneReviews: Not available | |
Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs. GeneReviews: Not available |
Genomic context
- Location:
- 7q22.3
- Sequence:
- Chromosome: 7; NC_000007.14 (107044705..107161811)
- Total number of exons:
- 11
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for PRKAR2B variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.