SNX15
sorting nexin 15
Summary
This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Overexpression of this gene results in a decrease in the processing of insulin and hepatocyte growth factor receptors to their mature subunits. This decrease is caused by the mislocalization of furin, the endoprotease responsible for cleavage of insulin and hepatocyte growth factor receptors. This protein is involved in endosomal trafficking from the plasma membrane to recycling endosomes or the trans-Golgi network. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ADP-ribosylation factor-like 2 (ARL2) gene. [provided by RefSeq, Dec 2010]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1320564359 | 11:64,795,097 | G/C | — | uncertain significance |
| rs525433 | 11:64,799,233 | A/G | intron variant | — |
| rs1946450801 | 11:64,799,924 | A/G | — | uncertain significance |
| rs759230126 | 11:64,799,927 | G/A | — | uncertain significance |
| rs150458436 | 11:64,799,933 | C/A | — | uncertain significance |
| rs200424255 | 11:64,799,967 | G/A | — | uncertain significance |
| rs199893726 | 11:64,802,337 | T/G | — | uncertain significance |
| rs150770183 | 11:64,802,348 | C/T | — | uncertain significance |
| rs139307325 | 11:64,802,376 | G/A | — | uncertain significance |
| rs200351503 | 11:64,802,394 | C/G | — | uncertain significance |
| rs757963919 | 11:64,802,588 | C/T | — | uncertain significance |
| rs943060149 | 11:64,802,610 | C/G | — | uncertain significance |
| rs780682677 | 11:64,802,622 | G/A | — | uncertain significance |
| rs142074663 | 11:64,803,001 | C/T | — | uncertain significance |
| rs1207063918 | 11:64,803,117 | G/T | — | uncertain significance |
| rs138177458 | 11:64,805,179 | C/T | upstream gene variant | — |
| rs369228727 | 11:64,806,059 | G/C | — | uncertain significance |
| rs199545875 | 11:64,806,068 | A/C | — | uncertain significance |
| rs919904669 | 11:64,806,085 | A/G | — | likely benign |
| rs373864895 | 11:64,806,179 | C/T | — | uncertain significance |
| rs751480885 | 11:64,806,245 | C/T | — | uncertain significance |
| rs756719652 | 11:64,806,247 | G/A | — | uncertain significance |
| rs754577456 | 11:64,807,218 | G/T | — | uncertain significance |
| rs1055589622 | 11:64,807,256 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.