VIPAS39 Chromosome 14
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
Upload your DNA to see your personal genotypes for variants in VIPAS39.
What This Gene Does
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]
Associated Conditions (11)
VIPAS39-related disorder
Lung cancer
Arthrogryposis
renal dysfunction
and cholestasis 2
Thyroid cancer
nonmedullary
1
Inborn genetic diseases
and cholestasis 1
Arthrogryposis with renal dysfunction and cholestasis syndrome
Key Variants
RS112217896
Conflicting classifications of pathogenicity
VIPAS39-related disorder, VIPAS39-related disorder
Health Risk
RS138544284
Conflicting classifications of pathogenicity
Health Risk
RS140365206
Conflicting classifications of pathogenicity
VIPAS39-related disorder, VIPAS39-related disorder
Health Risk
RS141155709
Conflicting classifications of pathogenicity
Lung cancer, Lung cancer
Health Risk
RS143865789
Conflicting classifications of pathogenicity
Health Risk
RS144120903
Conflicting classifications of pathogenicity
Arthrogryposis, renal dysfunction, and cholestasis 2
Health Risk
RS145373891
Conflicting classifications of pathogenicity
Health Risk
RS145453157
Conflicting classifications of pathogenicity
Arthrogryposis, renal dysfunction, and cholestasis 2
Health Risk
RS147303718
Conflicting classifications of pathogenicity
Health Risk
RS148623263
Conflicting classifications of pathogenicity
Health Risk
RS151206967
Conflicting classifications of pathogenicity
Inborn genetic diseases, Arthrogryposis, renal dysfunction
Health Risk
RS1566719540
Conflicting classifications of pathogenicity
Health Risk
All Variants (49)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112217896 | Health Risk | Conflicting classifications of pathogenicity | VIPAS39-related disorder, VIPAS39-related disorder |
| RS138544284 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140365206 | Health Risk | Conflicting classifications of pathogenicity | VIPAS39-related disorder, VIPAS39-related disorder |
| RS141155709 | Health Risk | Conflicting classifications of pathogenicity | Lung cancer, Lung cancer |
| RS143865789 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144120903 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, renal dysfunction, and cholestasis 2 |
| RS145373891 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145453157 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, renal dysfunction, and cholestasis 2 |
| RS147303718 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148623263 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS151206967 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Arthrogryposis, renal dysfunction |
| RS1566719540 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS188105111 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200162591 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201004985 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, renal dysfunction, and cholestasis 2 |
| RS202064596 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, renal dysfunction, and cholestasis 2 |
| RS370850533 | Health Risk | Conflicting classifications of pathogenicity | VIPAS39-related disorder, VIPAS39-related disorder |
| RS371371767 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS371762531 | Health Risk | Conflicting classifications of pathogenicity | VIPAS39-related disorder, VIPAS39-related disorder |
| RS376603353 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS537717904 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS569525220 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS754342872 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS760795319 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, renal dysfunction, and cholestasis 2 |
| RS768593671 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, renal dysfunction, and cholestasis 2 |
| RS78246426 | Health Risk | Conflicting classifications of pathogenicity | VIPAS39-related disorder, Inborn genetic diseases, VIPAS39-related disorder |
| RS886044709 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS988006454 | Health Risk | Conflicting classifications of pathogenicity | VIPAS39-related disorder, VIPAS39-related disorder |
| RS1555366438 | Health Risk | Likely pathogenic | Arthrogryposis, renal dysfunction, and cholestasis 2 |
| RS1566731055 | Health Risk | Likely pathogenic | — |
| RS1594910243 | Health Risk | Likely pathogenic | Arthrogryposis, renal dysfunction, and cholestasis 2 |
| RS2503151300 | Health Risk | Likely pathogenic | Arthrogryposis, renal dysfunction, and cholestasis 2 |
| RS747670551 | Health Risk | Likely pathogenic | Arthrogryposis, renal dysfunction, and cholestasis 2 |
| RS1555364979 | Health Risk | Pathogenic | Arthrogryposis, renal dysfunction, and cholestasis 2 |
| RS1594895847 | Health Risk | Pathogenic | Arthrogryposis, renal dysfunction, and cholestasis 1 |
| RS1594929571 | Health Risk | Pathogenic | Arthrogryposis, renal dysfunction, and cholestasis 1 |
| RS200370925 | Health Risk | Pathogenic | Arthrogryposis, renal dysfunction, and cholestasis 2 |
| RS200779594 | Health Risk | Pathogenic | Arthrogryposis, renal dysfunction, and cholestasis 2 |
| RS2139895315 | Health Risk | Pathogenic | Arthrogryposis, renal dysfunction, and cholestasis 2 |
| RS2503216999 | Health Risk | Pathogenic | — |
| RS267607171 | Health Risk | Pathogenic | Arthrogryposis, renal dysfunction, and cholestasis 2 |
| RS267607172 | Health Risk | Pathogenic | Arthrogryposis, renal dysfunction, and cholestasis 2 |
| RS267607173 | Health Risk | Pathogenic | Arthrogryposis, renal dysfunction, and cholestasis 2 |
| RS377615868 | Health Risk | Pathogenic | — |
| RS753677499 | Health Risk | Pathogenic | — |
| RS755556421 | Health Risk | Pathogenic | Arthrogryposis, renal dysfunction, and cholestasis 2 |
| RS778181495 | Health Risk | Pathogenic | Arthrogryposis, renal dysfunction, and cholestasis 2 |
| RS794726653 | Health Risk | Pathogenic | Arthrogryposis, renal dysfunction, and cholestasis 2 |
| RS747749610 | Health Risk | Pathogenic/Likely pathogenic | Arthrogryposis, renal dysfunction, and cholestasis 2 |