Gene
snx14
- ID
- ZDB-GENE-040724-144
- Name
- sorting nexin 14
- Symbol
- snx14 Nomenclature History
- Previous Names
-
- si:ch211-241p10.3
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to have phosphatidylinositol-3,5-bisphosphate binding activity. Involved in autophagosome maturation and cerebellar Purkinje cell layer development. Predicted to localize to late endosome and lysosome. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 20. Is expressed in central nervous system. Orthologous to human SNX14 (sorting nexin 14).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Akizu et al., 2015
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive spinocerebellar ataxia 20 | Alliance | Spinocerebellar ataxia, autosomal recessive 20 | 616354 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001683 | Phox homology |
| Domain | IPR003114 | Phox-associated domain |
| Domain | IPR013937 | Sorting nexin, C-terminal |
| Domain | IPR016137 | RGS domain |
| Domain | IPR037436 | Sorting nexin-14, PX domain |
| Domain | IPR037892 | SNX14, RGS domain |
| Homologous_superfamily | IPR036305 | RGS domain superfamily |
| Homologous_superfamily | IPR036871 | PX domain superfamily |
| Homologous_superfamily | IPR044926 | RGS, subdomain 2 |
Domain Details Per Protein
| Protein | Length | Phox-associated domain | Phox homology | PX domain superfamily | RGS domain | RGS domain superfamily | RGS, subdomain 2 | SNX14, RGS domain | Sorting nexin-14, PX domain | Sorting nexin, C-terminal |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q5PNP1
|
934 | |||||||||
|
UniProtKB:A0A8M2B751
|
942 | |||||||||
|
UniProtKB:E9QIC3
|
936 |
Interactions and Pathways
No data available
Plasmids
No data available