PRKAR2B Gene
Protein Kinase CAMP-Dependent Type II Regulatory Subunit Beta
Gene Information Card
| Symbol | PRKAR2B |
|---|---|
| Full Name | Protein Kinase CAMP-Dependent Type II Regulatory Subunit Beta |
| Gene Type | protein-coding |
| Chromosomal Location | 7q22.3 |
| NCBI Gene ID | 5577 ncbi.nlm.nih.gov/gene/5577 |
| Ensembl ID | ENSG00000105246 |
| UniProt ID | P31323 |
| OMIM ID | 176912 |
| HGNC ID | 9392 |
| Aliases | PRKAR2, RII-BETA, RIIB |
Description
PRKAR2B encodes the regulatory subunit beta of type II cAMP-dependent protein kinase (PKA). This subunit mediates cAMP signaling by binding to the catalytic subunit and regulating its activity. It is involved in various cellular processes including metabolism, gene expression, and cell proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acrodysostosis 2 with or without hormone resistance | Mutations in PRKAR2B impair PKA regulation, leading to skeletal and endocrine abnormalities | OMIM #616187 |
| Pigmented nodular adrenocortical disease (PPNAD) | Altered PKA signaling due to PRKAR2B defects contributes to adrenal hyperplasia | ClinVar, OMIM #610489 |
| Carney complex | PRKAR2B mutations are associated with this syndrome, though less common than PRKAR1A mutations | OMIM #160980 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Liver | 2.1 | Low |
| Kidney | 6.7 | Medium |
| Testis | 15.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.4 | High expression |
| HeLa | 7.8 | Moderate expression |
| K562 | 4.5 | Low expression |
| MCF7 | 9.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Cys) | Missense | Rare | Impaired cAMP binding, reduced PKA activity |
| c.587G>A (p.Arg196Gln) | Missense | Rare | Altered regulatory subunit interaction |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt cAMP binding or catalytic subunit interaction reduce PKA activity.
Gain of Function (GOF)
Not well documented; some variants may increase PKA activity but evidence is limited.
Dominant Negative (DN)
Certain missense mutations can interfere with wild-type regulatory subunit function.
View complete mutation data：
Gene Ontology (GO)
| • cAMP-dependent protein kinase regulator activity | • protein kinase A binding |
| • cAMP binding | • signal transduction |
| • regulation of protein kinase activity |
Pathways
• cAMP-PKA signaling pathway
• GPCR downstream signaling
• Regulation of lipolysis in adipocytes
Protein Summary
PRKAR2B encodes the RII-beta regulatory subunit of PKA. This protein binds cAMP and modulates the activity of the catalytic subunit. It is highly expressed in brain and testis, and plays a role in hormone signaling, metabolism, and cell growth. Mutations are linked to acrodysostosis and adrenal disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRKAR2B Knockout HEK293 Cell Line | EDJ-KQ5536 | Human | 5577 | Details Get a Quote |
| PRKAR2B Knockout A-549 Cell Line | EDJ-KQ27534 | Human | 5577 | Details Get a Quote |
| PRKAR2B Knockout HCT 116 Cell Line | EDJ-KQ28786 | Human | 5577 | Details Get a Quote |
| PRKAR2B Knockout HeLa Cell Line | EDJ-KQ54210 | Human | 5577 | Details Get a Quote |
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