PRKAR2A

Protein Kinase cAMP-Dependent Type II Regulatory Subunit Alpha

Gene Information Card

Symbol PRKAR2A
Full Name Protein Kinase cAMP-Dependent Type II Regulatory Subunit Alpha
Gene Type protein-coding
Chromosomal Location 3p21.31
NCBI Gene ID 5576 ncbi.nlm.nih.gov/gene/5576
Ensembl ID ENSG00000114346
UniProt ID P13861
OMIM ID 176910
HGNC ID 9392
Aliases PKR2, PRKAR2, RII-alpha

Description

PRKAR2A encodes the regulatory subunit type II-alpha of cAMP-dependent protein kinase A (PKA). This subunit binds cAMP and regulates PKA catalytic activity, playing a key role in signal transduction pathways controlling metabolism, gene expression, and cell proliferation. Mutations in PRKAR2A are linked to Carney complex and other neoplasia syndromes.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Carney complex Loss of function leads to dysregulated PKA activity and tumorigenesis OMIM #160980; ClinVar
Pigmented nodular adrenocortical disease Impaired cAMP signaling in adrenal cortex OMIM #610489; NCBI
Thyroid adenoma Altered PKA regulation in thyroid follicular cells COSMIC; literature

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 12.5 Medium
Heart 9.8 Medium
Adrenal gland 15.2 High
Thyroid 11.0 Medium
Testis 8.3 Medium
Cell Line Expression
Cell Line nTPM Notes
HEK293 14.1 High expression
HeLa 10.5 Moderate expression
K562 7.2 Low expression
A549 9.0 Moderate expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.892C>T (p.Arg298*) Nonsense <0.1% Loss of function; associated with Carney complex
c.1A>G (p.Met1?) Start loss <0.1% Loss of function; reported in adrenal tumors
c.1003G>A (p.Gly335Arg) Missense <0.1% Dominant negative effect on PKA regulation
Mutation functional classification

Loss of Function (LOF)

Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.

Gain of Function (GOF)

Not commonly reported; some missense variants may increase cAMP binding affinity.

Dominant Negative (DN)

Missense mutations (e.g., p.Gly335Arg) that impair regulatory subunit function and cause constitutive PKA activity.

Gene Ontology (GO)

• cAMP-dependent protein kinase regulator activity • protein kinase A binding
• cAMP binding • signal transduction
• regulation of protein phosphorylation

Pathways

• cAMP/PKA signaling pathway
• GPCR downstream signaling
• Regulation of lipolysis in adipocytes

Protein Summary

The PRKAR2A protein (RII-alpha) is a regulatory subunit of PKA type II. It contains two cAMP-binding domains and an N-terminal dimerization/docking domain. Upon cAMP binding, it releases the catalytic subunits to phosphorylate downstream targets. It is highly expressed in brain, heart, and endocrine tissues.

Related Products

Product name Cat.No. Species Gene ID
PRKAR2A Knockout HEK293 Cell Line EDJ-KQ3483 Human 5576 Details Get a Quote
PRKAR2A Knockout A-549 Cell Line EDJ-KQ25257 Human 5576 Details Get a Quote
PRKAR2A Knockout HCT 116 Cell Line EDJ-KQ25258 Human 5576 Details Get a Quote
PRKAR2A Knockout HeLa Cell Line EDJ-KQ25259 Human 5576 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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