VIPAS39

Chr 14AR

VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog

Also known as: C14orf133, SPE-39, SPE39, VIPAR, VPS16B, hSPE-39

NCBI Gene: 63894 ENSG00000151445 UniProt: Q9H9C1 OMIM: 613401

The VIPAS39 protein functions in endosome to lysosome transport and vesicle tethering, playing a critical role in intracellular trafficking and maintaining cellular polarity in epithelial cells. Mutations cause arthrogryposis, renal dysfunction, and cholestasis 2, a multisystem disorder affecting joints, kidneys, and liver function. This condition follows autosomal recessive inheritance.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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. Part of vesicle tethering complex. Implicated in arthrogryposis, renal dysfunction, and cholestasis 2. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Arthrogryposis, renal dysfunction, and cholestasis 2MIM #613404

Clinical highlights

Gene-disease validity (ClinGen)

arthrogryposis, renal dysfunction, and cholestasis 2 · 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

0.80

LOEUF

LOF

Mechanism· G2P