ACTRT2
actin related protein T2
Summary
The protein encoded by this intronless gene belongs to the actin family. Studies have shown that this protein may be involved in cytoskeletal organization similar to other cytoplasmic actin-related protein (ARP) subfamily members. Antibody raised against the human protein has been used to detect the protein by immunoblotting and immunofluorescence microscopy, demonstrating its specific synthesis in the testis, late in spermatid differentiation, and its localization in the calyx. [provided by RefSeq, Jul 2008]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs141283101 | 1:2,938,266 | G/A | — | uncertain significance |
| rs755674205 | 1:2,938,279 | C/G | — | uncertain significance |
| rs1641075465 | 1:2,938,294 | A/G | — | uncertain significance |
| rs1409247321 | 1:2,938,389 | C/T | — | uncertain significance |
| rs747558428 | 1:2,938,476 | G/A | — | uncertain significance |
| rs769262278 | 1:2,938,497 | T/C | — | uncertain significance |
| rs201756456 | 1:2,938,609 | G/A | — | uncertain significance |
| rs563201125 | 1:2,938,641 | T/A | — | uncertain significance |
| rs150794947 | 1:2,938,647 | G/A | — | uncertain significance |
| rs1237214149 | 1:2,938,750 | T/A | — | uncertain significance |
| rs147956405 | 1:2,938,800 | G/A | — | uncertain significance |
| rs1641085966 | 1:2,938,810 | G/A | — | uncertain significance |
| rs533735087 | 1:2,938,850 | C/T | — | likely benign |
| rs2521537962 | 1:2,938,862 | C/A | — | uncertain significance |
| rs61745278 | 1:2,938,887 | G/T | — | uncertain significance |
| rs1243739357 | 1:2,938,921 | C/A | — | uncertain significance |
| rs556208828 | 1:2,938,932 | G/A | — | uncertain significance |
| rs746128345 | 1:2,939,026 | C/T | — | uncertain significance |
| rs751643370 | 1:2,939,043 | G/A | — | uncertain significance |
| rs1317528893 | 1:2,939,146 | T/C | — | uncertain significance |
| rs199702037 | 1:2,939,155 | C/T | — | uncertain significance |
| rs374908751 | 1:2,939,191 | G/A | — | uncertain significance |
| rs1238724606 | 1:2,939,213 | G/T | — | uncertain significance |
| rs376335389 | 1:2,939,275 | G/T | — | uncertain significance |
| rs369911854 | 1:2,939,276 | G/T | — | uncertain significance |
| rs149188311 | 1:2,939,331 | G/A | — | uncertain significance |
| rs2521540416 | 1:2,939,364 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.