SNX13
sorting nexin 13
Summary
This gene encodes a PHOX domain- and RGS domain-containing protein that belongs to the sorting nexin (SNX) family and the regulator of G protein signaling (RGS) family. The PHOX domain is a phosphoinositide binding domain, and the SNX family members are involved in intracellular trafficking. The RGS family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. The RGS domain of this protein interacts with G alpha(s), accelerates its GTP hydrolysis, and attenuates G alpha(s)-mediated signaling. Overexpression of this protein delayes lysosomal degradation of the epidermal growth factor receptor. Because of its bifunctional role, this protein may link heterotrimeric G protein signaling and vesicular trafficking. [provided by RefSeq, Jul 2008]
Known Variants60 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs984507884 | 7:17,833,703 | T/G | — | uncertain significance |
| rs745798626 | 7:17,833,726 | C/T | — | uncertain significance |
| rs2534433066 | 7:17,833,755 | T/C | — | uncertain significance |
| rs1260979576 | 7:17,833,767 | G/A | — | uncertain significance |
| rs201322412 | 7:17,833,803 | C/T | — | uncertain significance |
| rs758679493 | 7:17,833,812 | A/G | — | uncertain significance |
| rs763377449 | 7:17,833,898 | A/G | — | uncertain significance |
| rs369004312 | 7:17,836,500 | C/T | — | uncertain significance |
| rs753767116 | 7:17,836,504 | T/A | — | uncertain significance |
| rs768475472 | 7:17,841,216 | C/T | — | uncertain significance |
| rs752067896 | 7:17,841,261 | T/C | — | uncertain significance |
| rs61755315 | 7:17,841,269 | A/G | — | uncertain significance |
| rs17854379 | 7:17,843,130 | C/T | — | uncertain significance |
| rs767000249 | 7:17,843,149 | C/A | — | uncertain significance |
| rs111462281 | 7:17,843,163 | T/G | — | uncertain significance |
| rs2723562 | 7:17,846,620 | C/A | — | — |
| rs6978097 | 7:17,851,527 | T/C | intron variant | — |
| rs1786479059 | 7:17,854,539 | G/A | — | uncertain significance |
| rs560600312 | 7:17,855,870 | T/C | — | uncertain significance |
| rs2534720494 | 7:17,861,179 | G/A | — | uncertain significance |
| rs1453703804 | 7:17,861,215 | G/A | — | uncertain significance |
| rs751681369 | 7:17,861,220 | T/A | — | uncertain significance |
| rs749815992 | 7:17,861,258 | A/T | — | uncertain significance |
| rs2723555 | 7:17,863,633 | T/G | — | — |
| rs960803553 | 7:17,873,741 | G/A | — | uncertain significance |
| rs748044394 | 7:17,874,388 | C/T | — | uncertain significance |
| rs201637072 | 7:17,874,395 | T/C | — | uncertain significance |
| rs749314790 | 7:17,874,430 | T/C | — | uncertain significance |
| rs902276081 | 7:17,874,436 | G/C | — | uncertain significance |
| rs376625714 | 7:17,874,466 | T/C | — | uncertain significance |
| rs763872572 | 7:17,879,521 | C/T | — | uncertain significance |
| rs187890598 | 7:17,879,535 | T/C | — | benign |
| rs200234752 | 7:17,885,231 | T/C | — | likely benign |
| rs377055119 | 7:17,885,273 | G/A | — | likely benign |
| rs1691264132 | 7:17,885,285 | A/C | — | uncertain significance |
| rs2483357832 | 7:17,885,293 | C/G | — | uncertain significance |
| rs2723572 | 7:17,888,587 | T/A | — | — |
| rs2483408345 | 7:17,890,530 | T/C | — | uncertain significance |
| rs765672187 | 7:17,890,543 | A/C | — | uncertain significance |
| rs1270661450 | 7:17,890,586 | A/G | — | uncertain significance |
| rs367562539 | 7:17,908,089 | G/A | — | uncertain significance |
| rs1423046340 | 7:17,908,092 | G/T | — | uncertain significance |
| rs1793669953 | 7:17,908,101 | G/C | — | uncertain significance |
| rs1917368 | 7:17,911,752 | G/T | regulatory region variant | — |
| rs1031788455 | 7:17,913,164 | C/T | — | uncertain significance |
| rs6461354 | 7:17,914,600 | C/T | intron variant | — |
| rs748723828 | 7:17,915,114 | T/C | — | uncertain significance |
| rs1383789036 | 7:17,915,306 | T/C | — | uncertain significance |
| rs761419078 | 7:17,915,307 | C/T | — | uncertain significance |
| rs772449692 | 7:17,915,331 | C/T | — | uncertain significance |
| rs370125156 | 7:17,915,346 | G/C | — | uncertain significance |
| rs4142995 | 7:17,919,258 | G/A | — | — |
| rs2691552 | 7:17,923,744 | T/C | intron variant | — |
| rs114305656 | 7:17,929,976 | G/A | — | benign |
| rs201210069 | 7:17,931,250 | T/G | — | uncertain significance |
| rs2483848562 | 7:17,932,965 | C/T | — | uncertain significance |
| rs2483850063 | 7:17,933,020 | A/T | — | uncertain significance |
| rs867559841 | 7:17,933,025 | G/C | — | uncertain significance |
| rs564485789 | 7:17,937,018 | T/C | — | likely benign |
| rs4721668 | 7:17,942,406 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.