VPS52 VPS52 subunit of GARP complex
Gene ID: 6293, updated on 2-Nov-2024Gene type: protein coding
Also known as: ARE1; SAC2; SACM2L; dJ1033B10.5
- See all available tests in GTR for this gene
- Go to complete Gene record for VPS52
- Go to Variation Viewer for VPS52 variants
Summary
This gene encodes a protein that is similar to the yeast suppressor of actin mutations 2 gene. The yeast protein forms a subunit of the tetrameric Golgi-associated retrograde protein complex that is involved in vesicle trafficking from from both early and late endosomes, back to the trans-Golgi network. This gene is located on chromosome 6 in a head-to-head orientation with the gene encoding ribosomal protein S18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Genomic context
- Location:
- 6p21.32
- Sequence:
- Chromosome: 6; NC_000006.12 (33250272..33271965, complement)
- Total number of exons:
- 22
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for VPS52 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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