ARRB2

arrestin beta 2

Summary

Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 2, like arrestin beta 1, was shown to inhibit beta-adrenergic receptor function in vitro. It is expressed at high levels in the central nervous system and may play a role in the regulation of synaptic receptors. Besides the brain, a cDNA for arrestin beta 2 was isolated from thyroid gland, and thus it may also be involved in hormone-specific desensitization of TSH receptors. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]

Known Variants25 total

rsidPosition (GRCh37)AllelesClassClinVar
rs3423028717:4,613,630C/Tregulatory region variant
rs378604717:4,615,098A/Gintron variant
rs3537667917:4,616,286T/A
rs14483008417:4,618,101A/Tintron variant
rs74579548517:4,618,322C/Tuncertain significance
rs991517517:4,619,792C/Tbenign
rs75668923917:4,619,833G/Auncertain significance
rs140896438517:4,619,886C/Auncertain significance
rs75732110117:4,621,005G/Auncertain significance
rs159748370217:4,621,212T/Cuncertain significance
rs250770063917:4,621,314A/Guncertain significance
rs15054513017:4,621,581A/Glikely benign
rs90193375517:4,621,947G/Tuncertain significance
rs104528017:4,622,638C/Tsynonymous variant
rs37030441517:4,622,645C/Tuncertain significance
rs3475025617:4,622,662C/Tbenign
rs74956534317:4,623,511C/Tlikely benign
rs250773036717:4,623,585C/Tuncertain significance
rs77792777517:4,623,747C/Tuncertain significance
rs75379808517:4,623,749C/Tuncertain significance
rs37332528817:4,623,883G/Auncertain significance
rs136308587317:4,623,898G/Auncertain significance
rs14239430217:4,624,249C/Tuncertain significance
rs191564590317:4,624,320G/Auncertain significance
rs203665717:4,625,159G/Aregulatory region variant

Gene information from NCBI Gene. Variant classifications from ClinVar.