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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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VPS33B
VPS33B late endosome and lysosome associated
Chromosome 15 Β· 15q26.1
NCBI Gene: 26276Ensembl: ENSG00000184056.15HGNC: HGNC:12712UniProt: A0A0S2Z577
95PubMed Papers
23Diseases
0Drugs
61Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
clathrin-coated vesicleearly endosome membranepeptidyl-lysine hydroxylationperinuclear region of cytoplasmarthrogryposis, renal dysfunction, and cholestasis 1Arthrogryposis - renal dysfunction - cholestasischolestasis, progressive familial intrahepatic, 12arthrogryposis-renal dysfunction-cholestasis syndrome
✦AI Summary

VPS33B encodes a Sec1/Munc18 family protein that plays crucial roles in vesicle-mediated protein trafficking and membrane fusion at late endosomes and lysosomes 1. The protein forms a stable complex with VIPAR, distinct from the CORVET/HOPS complexes that contain the related VPS33A protein 2. VPS33B is required for proper trafficking of lysyl hydroxylase 3 (LH3), a collagen-modifying enzyme, through interactions with Rab11a and Rab25 proteins 3. Additionally, VPS33B is essential for platelet Ξ±-granule formation, as demonstrated by studies of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome 4. Disease-causing mutations in VPS33B result in multiple clinical phenotypes including ARC syndrome, characterized by arthrogryposis, renal tubular dysfunction, and cholestasis 56, and autosomal recessive keratoderma-ichthyosis-deafness (ARKID) syndrome 3. Pathogenic variants impair protein interactions with Rab proteins and disrupt collagen modification processes, leading to defective epidermal barrier formation and abnormal platelet morphology. Recent reports suggest VPS33B variants may also affect von Willebrand factor levels, expanding the clinical spectrum 7.

Sources cited
1
VPS33B encodes a Sec1/Munc18 family protein involved in protein sorting and vesicular trafficking
PMID: 10894945
2
VPS33B forms a stable complex with VIPAR, distinct from CORVET/HOPS complexes
PMID: 29778605
3
VPS33B is required for trafficking lysyl hydroxylase 3 through interactions with Rab11a and Rab25
PMID: 28017832
4
VPS33B is essential for platelet Ξ±-granule formation
PMID: 39617187
5
VPS33B mutations cause ARC syndrome with arthrogryposis, renal dysfunction, and cholestasis
PMID: 29624233
6
ARC syndrome presents with multiple systemic abnormalities including abnormal platelet morphology
PMID: 34999573
7
VPS33B mutations cause ARKID syndrome and impair collagen modification processes
PMID: 28017832
8
VPS33B variants may affect von Willebrand factor levels
PMID: 39134495
Disease Associationsβ“˜23
arthrogryposis, renal dysfunction, and cholestasis 1Open Targets
0.83Strong
Arthrogryposis - renal dysfunction - cholestasisOpen Targets
0.80Strong
cholestasis, progressive familial intrahepatic, 12Open Targets
0.68Moderate
arthrogryposis-renal dysfunction-cholestasis syndromeOpen Targets
0.68Moderate
keratoderma-ichthyosis-deafness syndrome, autosomal recessiveOpen Targets
0.59Moderate
genetic disorderOpen Targets
0.48Moderate
arthrogryposisOpen Targets
0.47Moderate
congenital anomaly of kidney and urinary tractOpen Targets
0.46Moderate
type 2 diabetes mellitusOpen Targets
0.43Moderate
COVID-19Open Targets
0.38Weak
tuberculosisOpen Targets
0.37Weak
estrogen-receptor positive breast cancerOpen Targets
0.33Weak
myocardial infarctionOpen Targets
0.30Weak
coronary artery diseaseOpen Targets
0.30Weak
Ischemic strokeOpen Targets
0.30Weak
restless legs syndromeOpen Targets
0.29Weak
breast cancerOpen Targets
0.26Weak
diabetic retinopathyOpen Targets
0.21Weak
multisite chronic painOpen Targets
0.20Weak
atrial heart septal defectOpen Targets
0.15Weak
Arthrogryposis, renal dysfunction, and cholestasis 1UniProt
Cholestasis, progressive familial intrahepatic, 12UniProt
Keratoderma-ichthyosis-deafness syndrome, autosomal recessiveUniProt
Pathogenic Variants61
NM_018668.5(VPS33B):c.1030+1G>ALikely pathogenic
Cholestasis, progressive familial intrahepatic, 12;Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Arthrogryposis, renal dysfunction, and cholestasis 1|not provided|Arthrogryposis, renal dysfunction, and cholestasis 1
β˜…β˜…β˜†β˜†2026
NM_018668.5(VPS33B):c.319C>T (p.Arg107Ter)Pathogenic
not provided|Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Cholestasis, progressive familial intrahepatic, 12;Arthrogryposis, renal dysfunction, and cholestasis 1|Arthrogryposis, renal dysfunction, and cholestasis 1
β˜…β˜…β˜†β˜†2026β†’ Residue 107
NM_018668.5(VPS33B):c.1509dup (p.Lys504fs)Pathogenic
Arthrogryposis, renal dysfunction, and cholestasis 1|Cholestasis, progressive familial intrahepatic, 12|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 504
NM_018668.5(VPS33B):c.1623_1641del (p.Arg542fs)Pathogenic
VPS33B-related disorder|Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Cholestasis, progressive familial intrahepatic, 12;Arthrogryposis, renal dysfunction, and cholestasis 1|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 542
NM_018668.5(VPS33B):c.1567C>T (p.Arg523Ter)Pathogenic
not provided|Cholestasis, progressive familial intrahepatic, 12
β˜…β˜…β˜†β˜†2025β†’ Residue 523
NM_018668.5(VPS33B):c.242del (p.Leu81fs)Pathogenic
not provided|Cholestasis, progressive familial intrahepatic, 12
β˜…β˜…β˜†β˜†2025β†’ Residue 81
NM_018668.5(VPS33B):c.1519C>T (p.Arg507Ter)Pathogenic
Arthrogryposis, renal dysfunction, and cholestasis 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 507
NM_018668.5(VPS33B):c.1235_1236delinsG (p.Pro412fs)Pathogenic
Cholestasis, progressive familial intrahepatic, 12;Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Arthrogryposis, renal dysfunction, and cholestasis 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 412
NM_018668.5(VPS33B):c.1246C>T (p.Arg416Ter)Pathogenic
not provided|Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
β˜…β˜…β˜†β˜†2025β†’ Residue 416
NM_018668.5(VPS33B):c.1225+5G>CPathogenic
Arthrogryposis, renal dysfunction, and cholestasis 1|not provided|Inborn genetic diseases|VPS33B-related disorder|Arthrogryposis, renal dysfunction, and cholestasis 1;Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Cholestasis, progressive familial intrahepatic, 12
β˜…β˜…β˜†β˜†2025
NM_018668.5(VPS33B):c.277C>T (p.Arg93Ter)Pathogenic
not provided|VPS33B-related disorder|Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Cholestasis, progressive familial intrahepatic, 12;Arthrogryposis, renal dysfunction, and cholestasis 1|Arthrogryposis, renal dysfunction, and cholestasis 1
β˜…β˜…β˜†β˜†2025β†’ Residue 93
NM_018668.5(VPS33B):c.1498G>T (p.Glu500Ter)Pathogenic
Arthrogryposis, renal dysfunction, and cholestasis 1|not provided|Arthrogryposis, renal dysfunction, and cholestasis 1;Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Cholestasis, progressive familial intrahepatic, 12
β˜…β˜…β˜†β˜†2025β†’ Residue 500
NM_018668.5(VPS33B):c.498+4A>GLikely pathogenic
Arthrogryposis, renal dysfunction, and cholestasis 1|Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
β˜…β˜…β˜†β˜†2024
NM_018668.5(VPS33B):c.239+5G>APathogenic
not provided|Arthrogryposis, renal dysfunction, and cholestasis 1|Inborn genetic diseases|Arthrogryposis, renal dysfunction, and cholestasis 1;Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Cholestasis, progressive familial intrahepatic, 12
β˜…β˜…β˜†β˜†2024
NM_018668.5(VPS33B):c.1312C>T (p.Arg438Ter)Pathogenic
Arthrogryposis, renal dysfunction, and cholestasis 1|not provided|VPS33B-related disorder|Arthrogryposis, renal dysfunction, and cholestasis 1;Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Cholestasis, progressive familial intrahepatic, 12
β˜…β˜…β˜†β˜†2024β†’ Residue 438
NM_018668.5(VPS33B):c.403+2T>APathogenic
Arthrogryposis, renal dysfunction, and cholestasis 1|Cholestasis, progressive familial intrahepatic, 12;Arthrogryposis, renal dysfunction, and cholestasis 1;Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
β˜…β˜…β˜†β˜†2024
NM_018668.5(VPS33B):c.151C>T (p.Arg51Ter)Pathogenic
Arthrogryposis, renal dysfunction, and cholestasis 1|not provided|Arthrogryposis, renal dysfunction, and cholestasis 1;Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Cholestasis, progressive familial intrahepatic, 12
β˜…β˜…β˜†β˜†2024β†’ Residue 51
NM_018668.5(VPS33B):c.240-1G>CPathogenic
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive|Arthrogryposis, renal dysfunction, and cholestasis 1;Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Cholestasis, progressive familial intrahepatic, 12|not provided
β˜…β˜…β˜†β˜†2024
NM_018668.5(VPS33B):c.84T>A (p.Tyr28Ter)Pathogenic
Arthrogryposis, renal dysfunction, and cholestasis 1|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 28
NM_018668.5(VPS33B):c.350del (p.Pro117fs)Pathogenic
not provided|Arthrogryposis, renal dysfunction, and cholestasis 1
β˜…β˜…β˜†β˜†2020β†’ Residue 117
View on ClinVar β†—
Related Genes
VPS41Protein interaction100%VPS16Protein interaction100%STX7Protein interaction100%RAB9AProtein interaction100%STX8Protein interaction100%VTI1BProtein interaction100%
Tissue Expression6 tissues
Ovary
100%
Brain
89%
Lung
89%
Liver
69%
Bone Marrow
42%
Heart
14%
Gene Interaction Network
Click a node to explore
VPS33BVPS41VPS16STX7RAB9ASTX8VTI1B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9H267
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.97LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.81 [0.67–0.97]
RankingsWhere VPS33B stands among ~20K protein-coding genes
  • #5,067of 20,598
    Most Researched95 Β· top quartile
  • #1,154of 5,498
    Most Pathogenic Variants61 Β· top quartile
  • #9,214of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedVPS33B
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
1.00
2
ARC syndrome.
PMID: 29624233
Turk J Pediatr Β· 2017
0.90
3
Molecular basis of platelet granule defects.
PMID: 39617187
J Thromb Haemost Β· 2025
0.80
4
Cloning, mapping and expression analysis of VPS33B, the human orthologue of rat Vps33b.
PMID: 10894945
Cytogenet Cell Genet Β· 2000
0.70
5
Proteomic and Biochemical Comparison of the Cellular Interaction Partners of Human VPS33A and VPS33B.
PMID: 29778605
J Mol Biol Β· 2018
0.60