SNX14 sorting nexin 14
Gene ID: 57231, updated on 2-Nov-2024Gene type: protein coding
Also known as: SCAR20; RGS-PX2
- See all available tests in GTR for this gene
- Go to complete Gene record for SNX14
- Go to Variation Viewer for SNX14 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal recessive spinocerebellar ataxia 20 | See labs |
Genomic context
- Location:
- 6q14.3
- Sequence:
- Chromosome: 6; NC_000006.12 (85505496..85593858, complement)
- Total number of exons:
- 32
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SNX14 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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