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
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs34230287 | 17:4,613,630 | C/T | regulatory region variant | — |
| rs3786047 | 17:4,615,098 | A/G | intron variant | — |
| rs35376679 | 17:4,616,286 | T/A | — | — |
| rs144830084 | 17:4,618,101 | A/T | intron variant | — |
| rs745795485 | 17:4,618,322 | C/T | — | uncertain significance |
| rs9915175 | 17:4,619,792 | C/T | — | benign |
| rs756689239 | 17:4,619,833 | G/A | — | uncertain significance |
| rs1408964385 | 17:4,619,886 | C/A | — | uncertain significance |
| rs757321101 | 17:4,621,005 | G/A | — | uncertain significance |
| rs1597483702 | 17:4,621,212 | T/C | — | uncertain significance |
| rs2507700639 | 17:4,621,314 | A/G | — | uncertain significance |
| rs150545130 | 17:4,621,581 | A/G | — | likely benign |
| rs901933755 | 17:4,621,947 | G/T | — | uncertain significance |
| rs1045280 | 17:4,622,638 | C/T | synonymous variant | — |
| rs370304415 | 17:4,622,645 | C/T | — | uncertain significance |
| rs34750256 | 17:4,622,662 | C/T | — | benign |
| rs749565343 | 17:4,623,511 | C/T | — | likely benign |
| rs2507730367 | 17:4,623,585 | C/T | — | uncertain significance |
| rs777927775 | 17:4,623,747 | C/T | — | uncertain significance |
| rs753798085 | 17:4,623,749 | C/T | — | uncertain significance |
| rs373325288 | 17:4,623,883 | G/A | — | uncertain significance |
| rs1363085873 | 17:4,623,898 | G/A | — | uncertain significance |
| rs142394302 | 17:4,624,249 | C/T | — | uncertain significance |
| rs1915645903 | 17:4,624,320 | G/A | — | uncertain significance |
| rs2036657 | 17:4,625,159 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.