Entrez Gene ID | 27131 |
---|---|
Official Gene Symbol | SNX5 (GeneCards) |
Full name | sorting nexin 5 |
Location | 20p11.23 |
Other ids | Vega : OTTHUMG00000031953 MIM : 605937 HGNC : HGNC:14969 Ensembl : ENSG00000089006 |
Other names | None |
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. This protein functions in endosomal sorting, the phosphoinositide-signaling pathway, and macropinocytosis. This gene may play a role in the tumorigenesis of papillary thyroid carcinoma. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013] |
Found 2 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
1539 | 27131 | SNX5 | 20 | 17930778 | 17930778 | Autism Spectrum Disorders | NextSeq500 v2 |
29366 | 27131 | SNX5 | 20 | 17928186 | 17928186 | Autism Spectrum Disorders | NextSeq500 v2 MiSeq |