ARB2A

Adenosine Receptor B2A

Gene Information Card

Symbol ARB2A
Full Name Adenosine Receptor B2A
Gene Type protein-coding
Chromosomal Location 22q11.23
NCBI Gene ID 135 ncbi.nlm.nih.gov/gene/135
Ensembl ID ENSG00000128271
UniProt ID P29274
OMIM ID 102776
HGNC ID 263
Aliases ADORA2A, A2aR, RDC8

Description

ARB2A (ADORA2A) encodes the adenosine A2A receptor, a G protein-coupled receptor that binds adenosine and mediates cellular signaling via adenylyl cyclase activation. It is involved in cardiovascular regulation, immune modulation, neurotransmission, and inflammation.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Parkinson's disease Receptor modulation affects dopaminergic signaling; polymorphisms linked to risk ClinVar, OMIM
Schizophrenia Genetic variants associated with altered receptor expression and neurotransmission ClinVar, OMIM
Coronary artery disease Receptor activation influences vasodilation and inflammation NCBI Gene, OMIM
Cancer (various) Receptor expression modulates tumor microenvironment and immune evasion COSMIC, NCBI Gene

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 12.5 Medium
Heart 8.3 Medium
Lung 6.1 Low
Spleen 15.2 High
Liver 3.4 Low
Cell Line Expression
Cell Line nTPM Notes
HEK293 18.7 High expression
SH-SY5Y 9.2 Moderate expression
Jurkat 22.1 High expression
HepG2 4.5 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1085C>T (p.Thr362Met) Missense 0.01% Altered ligand binding
c.1364G>A (p.Arg455His) Missense 0.005% Reduced receptor activity
c.1976T>C (p.Leu659Pro) Missense 0.002% Unknown
Mutation functional classification

Loss of Function (LOF)

p.Arg455His reduces cAMP signaling

Gain of Function (GOF)

Not reported

Dominant Negative (DN)

Not reported

Gene Ontology (GO)

• G protein-coupled receptor activity • adenosine receptor activity
• adenylate cyclase-activating G protein-coupled receptor signaling pathway • inflammatory response
• nervous system development

Pathways

• Adenosine signaling pathway
• cAMP signaling pathway
• GPCR downstream signaling

Protein Summary

The adenosine A2A receptor is a 412-amino acid membrane protein with seven transmembrane domains. It couples to Gs proteins to stimulate adenylyl cyclase and increase intracellular cAMP. The receptor is widely expressed in brain, heart, and immune cells, regulating neurotransmitter release, vascular tone, and inflammation.

Related Products

Product name Cat.No. Species Gene ID
ARB2A Knockout HEK293 Cell Line EDJ-KQ9953 Human 83989 Details Get a Quote
ARB2A Knockout A-549 Cell Line EDJ-KQ36868 Human 83989 Details Get a Quote
ARB2A Knockout HCT 116 Cell Line EDJ-KQ36869 Human 83989 Details Get a Quote
ARB2A Knockout HeLa Cell Line EDJ-KQ36870 Human 83989 Details Get a Quote
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