PRKACB (Protein Kinase cAMP-Activated Catalytic Subunit Beta)
A key catalytic subunit of PKA involved in cAMP signaling, with implications in endocrine disorders and cancer.
Gene Information Card
| Symbol | PRKACB |
|---|---|
| Full Name | Protein kinase cAMP-activated catalytic subunit beta |
| Gene Type | protein coding |
| Chromosomal Location | 1p31.1 |
| NCBI Gene ID | 5567 ncbi.nlm.nih.gov/gene/5567 |
| Ensembl ID | ENSG00000142875 |
| UniProt ID | P22694 |
| OMIM ID | 176892 |
| HGNC ID | 9381 |
| Aliases | PKA C-beta, PKACB, MGC9320 |
Description
PRKACB encodes the beta catalytic subunit of cyclic AMP-dependent protein kinase (PKA). PKA is a tetrameric holoenzyme composed of two regulatory and two catalytic subunits. The beta catalytic subunit is involved in numerous cellular processes including metabolism, gene transcription, and cell proliferation. Mutations in PRKACB have been associated with endocrine tumors and Carney complex.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Carney complex | Activating mutations in PRKACB lead to increased PKA activity, promoting tumorigenesis. | OMIM, PubMed |
| Adrenocortical tumors | Somatic mutations and copy number alterations in PRKACB contribute to tumor development. | COSMIC, PubMed |
| Pigmented nodular adrenocortical disease | PRKACB mutations cause constitutive PKA activation, leading to cortisol overproduction. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Heart | 8.5 | Low |
| Liver | 5.2 | Low |
| Kidney | 7.8 | Low |
| Testis | 15.6 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| A549 | 8.7 | Lung carcinoma |
| MCF7 | 9.5 | Breast cancer |
| HepG2 | 6.4 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1102C>T (p.Arg368Ter) | Nonsense | Rare | Loss of function, reduced PKA activity |
| c.746G>A (p.Arg249His) | Missense | Somatic | Gain of function, increased PKA activity |
| c.1003G>A (p.Gly335Ser) | Missense | Somatic | Gain of function, associated with Carney complex |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations reduce PKA catalytic activity, potentially impairing cAMP signaling pathways.
Gain of Function (GOF)
Gain-of-function mutations increase PKA activity, leading to constitutive signaling and tumorigenesis.
Dominant Negative (DN)
Dominant-negative mutations may interfere with holoenzyme assembly, reducing overall PKA activity.
View complete mutation data：
Gene Ontology (GO)
| • protein kinase activity | • ATP binding |
| • cAMP-dependent protein kinase activity | • signal transduction |
| • protein phosphorylation | • regulation of transcription |
Pathways
• cAMP signaling pathway
• PKA-mediated phosphorylation
• GPCR downstream signaling
Protein Summary
PRKACB encodes the beta catalytic subunit of PKA, a serine/threonine kinase that phosphorylates various substrates in response to cAMP. The protein is involved in multiple cellular processes including metabolism, gene expression, and cell cycle regulation. Aberrant activity due to mutations can lead to endocrine disorders and cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRKACB Knockout HEK293 Cell Line | EDJ-KQ1218 | Human | 5567 | Details Get a Quote |
| PRKACB Knockout A-549 Cell Line | EDJ-KQ20545 | Human | 5567 | Details Get a Quote |
| PRKACB Knockout HCT 116 Cell Line | EDJ-KQ20546 | Human | 5567 | Details Get a Quote |
| PRKACB Knockout HeLa Cell Line | EDJ-KQ20547 | Human | 5567 | Details Get a Quote |
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