GANAB Chromosome 11
Glucosidase II alpha subunit
Upload your DNA to see your personal genotypes for variants in GANAB.
What This Gene Does
This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glycoproteins in the endoplasmic reticulum. Expression of the encoded protein is elevated in lung tumor tissue and in response to UV irradiation. Mutations in this gene cause autosomal-dominant polycystic kidney and liver disease. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
Glycoside hydrolase family 31
Locus Type
gene with protein product
Location
11q12.3
Ensembl
ENSG00000089597
Associated Conditions (11)
Inborn genetic diseases
Polycystic kidney disease 3 with or without polycystic liver disease
Chronic kidney disease
Autosomal dominant polycystic liver disease
GANAB-related disorder
Colon adenocarcinoma
Clear cell carcinoma of kidney
POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE
Biliary tract abnormality
Autosomal dominant polycystic kidney disease
POLYCYSTIC KIDNEY DISEASE 3 WITHOUT POLYCYSTIC LIVER DISEASE
Key Variants
RS1033126561
Conflicting classifications of pathogenicity
Inborn genetic diseases, Polycystic kidney disease 3 with or without polycystic liver disease, Inborn genetic diseases
Health Risk
RS1063445
Conflicting classifications of pathogenicity
Chronic kidney disease, Autosomal dominant polycystic liver disease, Chronic kidney disease
Health Risk
RS143393884
Conflicting classifications of pathogenicity
GANAB-related disorder, GANAB-related disorder
Health Risk
RS143499716
Conflicting classifications of pathogenicity
Health Risk
RS143779086
Conflicting classifications of pathogenicity
Polycystic kidney disease 3 with or without polycystic liver disease, GANAB-related disorder, Inborn genetic diseases
Health Risk
RS145841521
Conflicting classifications of pathogenicity
Polycystic kidney disease 3 with or without polycystic liver disease, Inborn genetic diseases, Polycystic kidney disease 3 with or without polycystic liver disease
Health Risk
RS146501208
Conflicting classifications of pathogenicity
GANAB-related disorder, GANAB-related disorder
Health Risk
RS147598095
Conflicting classifications of pathogenicity
Inborn genetic diseases, Polycystic kidney disease 3 with or without polycystic liver disease, Inborn genetic diseases
Health Risk
RS200414966
Conflicting classifications of pathogenicity
GANAB-related disorder, Inborn genetic diseases, GANAB-related disorder
Health Risk
RS201801499
Conflicting classifications of pathogenicity
Polycystic kidney disease 3 with or without polycystic liver disease, Inborn genetic diseases, GANAB-related disorder
Health Risk
RS202154028
Conflicting classifications of pathogenicity
Health Risk
RS369363596
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (59)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1033126561 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Polycystic kidney disease 3 with or without polycystic liver disease, Inborn genetic diseases |
| RS1063445 | Health Risk | Conflicting classifications of pathogenicity | Chronic kidney disease, Autosomal dominant polycystic liver disease, Chronic kidney disease |
| RS143393884 | Health Risk | Conflicting classifications of pathogenicity | GANAB-related disorder, GANAB-related disorder |
| RS143499716 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143779086 | Health Risk | Conflicting classifications of pathogenicity | Polycystic kidney disease 3 with or without polycystic liver disease, GANAB-related disorder, Inborn genetic diseases |
| RS145841521 | Health Risk | Conflicting classifications of pathogenicity | Polycystic kidney disease 3 with or without polycystic liver disease, Inborn genetic diseases, Polycystic kidney disease 3 with or without polycystic liver disease |
| RS146501208 | Health Risk | Conflicting classifications of pathogenicity | GANAB-related disorder, GANAB-related disorder |
| RS147598095 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Polycystic kidney disease 3 with or without polycystic liver disease, Inborn genetic diseases |
| RS200414966 | Health Risk | Conflicting classifications of pathogenicity | GANAB-related disorder, Inborn genetic diseases, GANAB-related disorder |
| RS201801499 | Health Risk | Conflicting classifications of pathogenicity | Polycystic kidney disease 3 with or without polycystic liver disease, Inborn genetic diseases, GANAB-related disorder |
| RS202154028 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369363596 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS369991667 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS371678104 | Health Risk | Conflicting classifications of pathogenicity | Polycystic kidney disease 3 with or without polycystic liver disease, GANAB-related disorder, Polycystic kidney disease 3 with or without polycystic liver disease |
| RS377690186 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Polycystic kidney disease 3 with or without polycystic liver disease, Inborn genetic diseases |
| RS748477839 | Health Risk | Conflicting classifications of pathogenicity | Polycystic kidney disease 3 with or without polycystic liver disease, Inborn genetic diseases, Polycystic kidney disease 3 with or without polycystic liver disease |
| RS751022869 | Health Risk | Conflicting classifications of pathogenicity | Polycystic kidney disease 3 with or without polycystic liver disease, Inborn genetic diseases, Polycystic kidney disease 3 with or without polycystic liver disease |
| RS751405998 | Health Risk | Conflicting classifications of pathogenicity | Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease |
| RS753910059 | Health Risk | Conflicting classifications of pathogenicity | Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease |
| RS762692505 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS765897602 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS766670791 | Health Risk | Conflicting classifications of pathogenicity | Polycystic kidney disease 3 with or without polycystic liver disease, Colon adenocarcinoma, Clear cell carcinoma of kidney |
| RS777546492 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, GANAB-related disorder, Inborn genetic diseases |
| RS780758909 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, GANAB-related disorder, Inborn genetic diseases |
| RS937056702 | Health Risk | Conflicting classifications of pathogenicity | Polycystic kidney disease 3 with or without polycystic liver disease, Inborn genetic diseases, Polycystic kidney disease 3 with or without polycystic liver disease |
| RS1394696665 | Health Risk | Likely pathogenic | Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease |
| RS1565092566 | Health Risk | Likely pathogenic | Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS1565093675 | Health Risk | Likely pathogenic | Autosomal dominant polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS1565116806 | Health Risk | Likely pathogenic | Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS1943774392 | Health Risk | Likely pathogenic | Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease |
| RS1943838983 | Health Risk | Likely pathogenic | Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease |
| RS2496316533 | Health Risk | Likely pathogenic | — |
| RS2496332587 | Health Risk | Likely pathogenic | GANAB-related disorder, GANAB-related disorder |
| RS2496333718 | Health Risk | Likely pathogenic | Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease |
| RS2539030948 | Health Risk | Likely pathogenic | Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease |
| RS2539052796 | Health Risk | Likely pathogenic | Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease |
| RS768502347 | Health Risk | Likely pathogenic | Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease |
| RS879255643 | Health Risk | Likely pathogenic | POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE, Polycystic kidney disease 3 with or without polycystic liver disease, POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE |
| RS1210158408 | Health Risk | Pathogenic | Autosomal dominant polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease, Biliary tract abnormality |
| RS1465649718 | Health Risk | Pathogenic | Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS1565092899 | Health Risk | Pathogenic | Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS1565099895 | Health Risk | Pathogenic | Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS1590789370 | Health Risk | Pathogenic | POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE, POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE |
| RS2496291378 | Health Risk | Pathogenic | Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease |
| RS2496300697 | Health Risk | Pathogenic | — |
| RS2496320129 | Health Risk | Pathogenic | Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease |
| RS2496332664 | Health Risk | Pathogenic | Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease |
| RS2496336176 | Health Risk | Pathogenic | Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease |
| RS2496357868 | Health Risk | Pathogenic | — |
| RS2496375170 | Health Risk | Pathogenic | — |