ACTR2
actin related protein 2
Summary
The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants10 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs375536973 | 2:65,469,190 | A/G | — | uncertain significance |
| rs2528533482 | 2:65,473,706 | G/A | — | uncertain significance |
| rs779587590 | 2:65,478,188 | G/A | — | uncertain significance |
| rs2528552178 | 2:65,482,728 | C/T | — | uncertain significance |
| rs553524620 | 2:65,482,773 | T/C | — | uncertain significance |
| rs2528575934 | 2:65,492,281 | T/G | — | uncertain significance |
| rs2528584088 | 2:65,495,706 | G/T | — | uncertain significance |
| rs2528584091 | 2:65,495,709 | C/G | — | uncertain significance |
| rs10116 | 2:65,496,729 | G/A | 3 prime UTR variant | — |
| rs62139061 | 2:65,498,805 | T/C | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.