SNX14 Gene Summary [Human]

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]

Details

Type
Nonsense Mediated Decay
Official Symbol
SNX14
Official Name
sorting nexin 14 [Source:HGNC Symbol;Acc:HGNC:14977]
Ensembl ID
ENSG00000135317
Bio databases IDs NCBI: 57231 Ensembl: ENSG00000135317
Aliases sorting nexin 14
Synonyms B830022K16, C330035N22RIK, RGS-PX2, SCAR20, sorting nexin 14, YR-14
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SNX14 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Regulator of G protein signaling domain
  • binding protein
  • PXA domain
  • Sorting nexin C terminal
  • Regulator of G protein signaling (RGS) domain superfamily
  • The Phox Homology domain, a phosphoinositide binding module
  • phosphatidylinositol binding
  • PX domain
  • transporter

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • autosomal recessive spinocerebellar ataxia type 20
  • spinocerebellar ataxia
  • neurodevelopmental disorder
regulated by
regulates
  • Shiga toxin 2
role in cell
  • fusion
  • size
  • morphology
  • biogenesis in
  • biogenesis

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • intracellular membrane-bounded organelle
  • lysosome
  • Endoplasmic Reticulum
  • cytosol
  • synapse
  • late endosomes

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human SNX14 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • protein transport

Cellular Component

Where in the cell the gene product is active
  • late endosome membrane
  • dendrite
  • intracellular membrane-bounded organelle
  • late endosome
  • cytosol
  • lysosomal membrane
  • lysosome

Molecular Function

What the gene product does at the molecular level
  • phosphatidylinositol binding
  • phosphatidylinositol-3,5-bisphosphate binding

Gene-Specific Assays for Results You Can Trust

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