ARRB2 Gene - Beta-Arrestin 2

Key regulator of G protein-coupled receptor signaling and cellular trafficking

Gene Information Card

Symbol ARRB2
Full Name Arrestin Beta 2
Gene Type Protein coding
Chromosomal Location 17p13.2
NCBI Gene ID 409 ncbi.nlm.nih.gov/gene/409
Ensembl ID ENSG00000141480
UniProt ID P32121
OMIM ID 107940
HGNC ID 711
Aliases ARR2, ARRESTIN2, BARR2

Description

The ARRB2 gene encodes beta-arrestin 2, a member of the arrestin family that regulates G protein-coupled receptor (GPCR) desensitization, internalization, and signaling. Beta-arrestin 2 also scaffolds signaling complexes and modulates non-GPCR pathways, influencing cell proliferation, migration, and apoptosis.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cardiovascular diseases Beta-arrestin 2 modulates GPCR signaling in heart and vessels, affecting cardiac contractility and blood pressure regulation. PMID: 25609768
Cancer (various) Altered ARRB2 expression influences tumor growth, metastasis, and drug resistance via GPCR and non-GPCR pathways. PMID: 29348627
Neuropsychiatric disorders Beta-arrestin 2 regulates dopamine and opioid receptor signaling, implicated in schizophrenia and addiction. PMID: 21307846

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 18.5 Medium
Heart 12.3 Medium
Liver 6.7 Low
Lung 15.2 Medium
Kidney 9.8 Low
Cell Line Expression
Cell Line nTPM Notes
HEK293 22.1 High expression
HeLa 14.5 Medium expression
A549 11.3 Medium expression
MCF7 8.9 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.112G>A (p.Val38Ile) Missense <0.01% Unknown functional impact
c.413C>T (p.Pro138Leu) Missense <0.01% Potential loss of function
c.784A>G (p.Thr262Ala) Missense <0.01% Altered receptor binding
Mutation functional classification

Loss of Function (LOF)

Rare missense variants may impair beta-arrestin 2 interaction with GPCRs, reducing desensitization.

Gain of Function (GOF)

Not well documented; some variants may enhance scaffolding functions.

Dominant Negative (DN)

No confirmed dominant-negative mutations reported.

Gene Ontology (GO)

• GO:0002031: G protein-coupled receptor internalization • GO:0002032: desensitization of G protein-coupled receptor signaling pathway
• GO:0031625: ubiquitin protein ligase binding • GO:0042802: identical protein binding
• GO:0005515: protein binding

Pathways

GPCR downstream signaling (Reactome: R-HSA-388396)
Beta-arrestin signaling (Reactome: R-HSA-416476)
Class A/1 (Rhodopsin-like receptors) (Reactome: R-HSA-373076)

Protein Summary

Beta-arrestin 2 is a 410-amino acid protein that binds phosphorylated GPCRs, sterically blocking G protein coupling and recruiting clathrin and AP-2 for receptor internalization. It also serves as a scaffold for MAPK and other signaling cascades, influencing cell fate and immune responses.

Related Products

Product name Cat.No. Species Gene ID
ARRB2 Knockout HEK293 Cell Line EDJ-KQ609 Human 409 Details Get a Quote
ARRB2 Knockout A-549 Cell Line EDJ-KQ19066 Human 409 Details Get a Quote
ARRB2 Knockout HCT 116 Cell Line EDJ-KQ19067 Human 409 Details Get a Quote
ARRB2 Knockout HeLa Cell Line EDJ-KQ18317 Human 409 Details Get a Quote
ARRB1 and ARRB2 Knockout HEK293T Cell Line EDC08108 Human 408 and 409 Details Get a Quote
Displaying Records 1 To 5 Of 5 Records
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