SNX9
sorting nexin 9
Summary
This gene encodes a member of the sorting nexin family. Members of this family contain a phosphoinositide binding domain, and are involved in intracellular trafficking. The encoded protein does not contain a coiled coil region, like some family members, but does contain a SRC homology domain near its N-terminus. The encoded protein is reported to have a variety of interaction partners, including of adaptor protein 2 , dynamin, tyrosine kinase non-receptor 2, Wiskott-Aldrich syndrome-like, and ARP3 actin-related protein 3. The encoded protein is implicated in several stages of intracellular trafficking, including endocytosis, macropinocytosis, and F-actin nucleation. [provided by RefSeq, Jul 2013]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs111731871 | 6:158,256,077 | C/T | upstream gene variant | — |
| rs9365485 | 6:158,257,834 | C/A | intron variant | — |
| rs2482922778 | 6:158,288,660 | A/G | — | uncertain significance |
| rs9356100 | 6:158,299,952 | C/T | upstream gene variant | — |
| rs78503206 | 6:158,311,499 | C/T | intron variant | — |
| rs144624939 | 6:158,317,863 | G/A | — | uncertain significance |
| rs770539783 | 6:158,317,948 | G/C | — | likely benign |
| rs1042545737 | 6:158,322,943 | T/C | — | likely benign |
| rs760959192 | 6:158,322,965 | G/T | — | uncertain significance |
| rs2482981004 | 6:158,322,980 | T/A | — | uncertain significance |
| rs61748681 | 6:158,322,995 | A/G | — | likely benign |
| rs1783212205 | 6:158,327,237 | C/T | — | uncertain significance |
| rs2482994360 | 6:158,330,736 | A/C | — | uncertain significance |
| rs2482994929 | 6:158,330,987 | A/T | — | uncertain significance |
| rs2482995010 | 6:158,331,015 | T/C | — | uncertain significance |
| rs371598888 | 6:158,342,554 | C/T | — | likely benign |
| rs2483014377 | 6:158,342,677 | A/T | — | uncertain significance |
| rs757587297 | 6:158,353,299 | A/C | — | uncertain significance |
| rs113092501 | 6:158,357,080 | C/T | — | benign |
| rs148825841 | 6:158,359,669 | C/G | — | uncertain significance |
| rs2483043286 | 6:158,361,945 | T/C | — | uncertain significance |
| rs577 | 6:158,365,035 | C/T | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.