ACTG2
actin gamma 2, smooth muscle
Summary
Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]
Known Variants69 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1721241 | 2:74,128,391 | C/G | — | benign |
| rs1050146 | 2:74,128,433 | C/T | — | benign |
| rs1462841170 | 2:74,128,466 | G/A | — | likely pathogenic |
| rs1553394796 | 2:74,128,505 | G/A | — | uncertain significance |
| rs869312168 | 2:74,128,551 | G/A | missense variant | pathogenic |
| rs1573461481 | 2:74,128,554 | C/T | — | pathogenic |
| rs587777385 | 2:74,128,556 | C/T | missense variant | pathogenic |
| rs587777386 | 2:74,128,557 | G/A | missense variant | pathogenic |
| rs774409368 | 2:74,128,561 | C/A | — | uncertain significance |
| rs761722608 | 2:74,128,569 | G/A | — | uncertain significance |
| rs2466893600 | 2:74,129,491 | T/A | — | uncertain significance |
| rs864309490 | 2:74,129,494 | T/C | missense variant | pathogenic |
| rs2466893610 | 2:74,129,497 | T/C | — | uncertain significance |
| rs2104807609 | 2:74,129,538 | C/G | — | uncertain significance |
| rs1220479216 | 2:74,129,543 | C/G | — | uncertain significance |
| rs864309491 | 2:74,129,547 | C/G | missense variant | pathogenic |
| rs1573462811 | 2:74,129,548 | G/A | — | pathogenic |
| rs780136497 | 2:74,129,577 | G/C | — | uncertain significance |
| rs149132468 | 2:74,129,582 | C/T | — | likely benign |
| rs143614519 | 2:74,129,606 | C/T | — | benign |
| rs768290597 | 2:74,129,825 | C/A | intron variant | pathogenic |
| rs702461 | 2:74,135,797 | C/T | — | benign |
| rs1573468797 | 2:74,135,881 | C/G | — | likely pathogenic |
| rs1057522054 | 2:74,135,891 | A/G | missense variant | pathogenic |
| rs757905857 | 2:74,135,892 | C/A | — | likely pathogenic |
| rs756128 | 2:74,135,898 | A/G | — | benign |
| rs2104815484 | 2:74,135,903 | T/C | — | uncertain significance |
| rs587777388 | 2:74,136,215 | T/A | missense variant | pathogenic |
| rs2104815901 | 2:74,136,254 | G/C | — | likely pathogenic |
| rs587777383 | 2:74,136,257 | C/T | missense variant | pathogenic |
| rs730880256 | 2:74,136,258 | G/A | missense variant | pathogenic |
| rs1680075415 | 2:74,136,261 | C/G | — | uncertain significance |
| rs34286914 | 2:74,140,616 | C/T | — | benign |
| rs761385269 | 2:74,140,638 | G/A | — | not provided |
| rs78001248 | 2:74,140,692 | C/T | missense variant | pathogenic |
| rs587777384 | 2:74,140,693 | G/A | missense variant | pathogenic |
| rs1057520776 | 2:74,140,725 | T/C | — | uncertain significance |
| rs1057520694 | 2:74,140,744 | C/T | missense variant | pathogenic |
| rs140943831 | 2:74,140,748 | G/T | missense variant | pathogenic |
| rs2104821169 | 2:74,140,750 | G/C | — | likely pathogenic |
| rs864309492 | 2:74,140,753 | G/A | missense variant | pathogenic |
| rs1057516046 | 2:74,140,773 | G/A | missense variant | pathogenic |
| rs146450506 | 2:74,140,781 | G/T | — | benign |
| rs1680222160 | 2:74,141,807 | C/A | — | uncertain significance |
| rs1680222223 | 2:74,141,808 | T/G | — | likely benign |
| rs2466915651 | 2:74,141,809 | G/A | — | uncertain significance |
| rs2104822473 | 2:74,141,822 | T/C | — | uncertain significance |
| rs1553396458 | 2:74,141,825 | G/A | — | pathogenic |
| rs1680222670 | 2:74,141,830 | A/G | — | uncertain significance |
| rs747982211 | 2:74,141,894 | C/T | — | uncertain significance |
| rs760143686 | 2:74,141,951 | A/G | — | uncertain significance |
| rs587777387 | 2:74,141,962 | C/T | missense variant | pathogenic |
| rs797044959 | 2:74,141,963 | G/A | missense variant | pathogenic |
| rs751807957 | 2:74,141,985 | G/A | — | likely benign |
| rs1188664556 | 2:74,142,002 | A/G | — | uncertain significance |
| rs2104825018 | 2:74,143,716 | G/A | — | uncertain significance |
| rs2104825201 | 2:74,143,873 | C/T | — | likely pathogenic |
| rs151132409 | 2:74,143,874 | C/T | — | benign |
| rs2104825219 | 2:74,143,886 | G/T | — | uncertain significance |
| rs2466919097 | 2:74,143,890 | A/C | — | uncertain significance |
| rs2104827743 | 2:74,146,574 | G/A | — | uncertain significance |
| rs1573477749 | 2:74,146,577 | C/T | — | uncertain significance |
| rs1247270735 | 2:74,146,578 | G/A | — | likely pathogenic |
| rs1680334812 | 2:74,146,602 | G/C | — | uncertain significance |
| rs1553397067 | 2:74,146,605 | C/G | — | uncertain significance |
| rs2104827803 | 2:74,146,608 | T/C | — | uncertain significance |
| rs2466922204 | 2:74,146,639 | G/T | — | uncertain significance |
| rs2466922300 | 2:74,146,692 | A/G | — | uncertain significance |
| rs111474892 | 2:74,146,710 | A/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.