VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
Gene ID: 63894, updated on 3-Apr-2024Gene type: protein coding
Also known as: SPE39; VIPAR; SPE-39; VPS16B; hSPE-39; C14orf133
- See all available tests in GTR for this gene
- Go to complete Gene record for VIPAS39
- Go to Variation Viewer for VIPAS39 variants
Summary
Involved in endosome to lysosome transport and intracellular protein transport. Acts upstream of or within collagen metabolic process and peptidyl-lysine hydroxylation. Located in Golgi apparatus and endosome. Implicated in arthrogryposis, renal dysfunction, and cholestasis 2. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Arthrogryposis, renal dysfunction, and cholestasis 2 | See labs |
Genomic context
- Location:
- 14q24.3
- Sequence:
- Chromosome: 14; NC_000014.9 (77426675..77457601, 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 VIPAS39 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
- VIPAR @ LOVD
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