External Ids for SNX14 Gene
Previous GeneCards Identifiers for SNX14 Gene
This gene encodes a member of the sorting nexin family. Members of this family have a phox (PX) phosphoinositide binding domain and are involved in intracellular trafficking. The encoded protein also contains a regulator of G protein signaling (RGS) domain. Regulator of G protein signaling family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. Alternate splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
GeneCards Summary for SNX14 Gene
SNX14 (Sorting Nexin 14) is a Protein Coding gene. Diseases associated with SNX14 include intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome and spinocerebellar ataxia, autosomal recessive 20. GO annotations related to this gene include phosphatidylinositol binding. An important paralog of this gene is SNX13.
UniProtKB/Swiss-Prot for SNX14 Gene
Plays a role in maintaining normal neuronal excitability and synaptic transmission. May be involved in several stages of intracellular trafficking (By similarity). Required for autophagosome clearance, possibly by mediating the fusion of lysosomes with autophagosomes (Probable). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2), a key component of late endosomes/lysosomes (PubMed:25848753). Does not bind phosphatidylinositol 3-phosphate (PtdIns(3P)) (PubMed:25848753, PubMed:25148684).