SNX14 gene

sorting nexin 14

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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).

From NCBI Gene:

  • Spinocerebellar ataxia, autosomal recessive 20

From UniProt:

Spinocerebellar ataxia, autosomal recessive, 20 (SCAR20): A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR20 is characterized by cerebellar atrophy, ataxia, coarsened facial features, severely delayed psychomotor development with poor or absent speech, and intellectual disability. [MIM:616354]

Cytogenetic Location: 6q14.3, which is the long (q) arm of chromosome 6 at position 14.3

Molecular Location: base pairs 85,505,496 to 85,594,156 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6q14.3, which is the long (q) arm of chromosome 6 at position 14.3
  • RGS-PX2
  • SCAR20