SNX14

Chr 6

sorting nexin 14

Also known as: RGS-PX2, SCAR20

NCBI Gene: 57231 ENSG00000135317 UniProt: Q9Y5W7

This protein maintains normal neuronal excitability and synaptic transmission through intracellular trafficking functions, specifically binding phosphatidylinositol 3,5-bisphosphate and mediating autophagosome clearance by facilitating lysosome-autophagosome fusion. Mutations cause spinocerebellar ataxia, autosomal recessive 20 through an autosomal recessive inheritance pattern. The pathogenic mechanism is predicted to involve gain-of-function effects.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpinocerebellar ataxia, autosomal recessive, 20

Clinical highlights

Gene-disease validity (ClinGen)

autosomal recessive spinocerebellar ataxia 20 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.83

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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