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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GANAB
glucosidase II alpha subunit
Chromosome 11 Β· 11q12.3
NCBI Gene: 23193Ensembl: ENSG00000089597.18HGNC: HGNC:4138UniProt: B4DIW2
257PubMed Papers
21Diseases
0Drugs
57Pathogenic Variants
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA bindingGlc2Man9GlcNAc2 oligosaccharide glucosidase activityN-glycan processingendoplasmic reticulumpolycystic kidney disease 3 with or without polycystic liver diseasekidney diseaseAutosomal dominant polycystic kidney diseaseautosomal dominant polycystic liver disease
✦AI Summary

GANAB encodes the catalytic alpha subunit of glucosidase II, an endoplasmic reticulum (ER) enzyme that sequentially removes the two innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor during N-glycan processing of immature glycoproteins 1. This glucose trimming is essential for proper protein folding and quality control in the ER, where the balance between GANAB-mediated deglycosylation and UGGT-mediated reglycosylation determines protein maturation 2. GANAB is critical for maturation and cell surface/ciliary localization of polycystin-1 (PKD1) and polycystin-2 (PKD2), the primary determinants of cyst pathogenesis 3. Loss-of-function GANAB mutations impair polycystin trafficking through defective protein biogenesis, triggering unfolded protein response and cyst formation 32. Pathogenic GANAB variants cause autosomal dominant polycystic liver disease (ADPLD) with minimal kidney involvement, and can also present as autosomal dominant polycystic kidney disease (ADPKD) 45. Among genetically confirmed ADPKD cases, GANAB accounts for a minority of diagnoses, with loss-of-function variants significantly associated with disease 6. GANAB represents a minor but clinically important locus bridging kidney and liver cystic disease through ER protein biosynthetic pathway disruption 5.

Sources cited
1
GANAB cleaves the two innermost glucose residues from Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor in immature glycoproteins
PMID: 10929008
2
GANAB loss-of-function results in defective maturation and trafficking of polycystin-1, causing polycystic liver disease
PMID: 28375157
3
GANAB is associated with both ADPKD and ADPLD phenotypes in genetic complexity of polycystic kidney and liver diseases
PMID: 29038287
4
GANAB mutations affect the endoplasmic reticulum protein biosynthetic pathway and contribute to ADPKD pathogenesis
PMID: 32690722
5
GANAB mediates deglycosylation of N-glycans and abnormal GANAB expression affects polycystic kidney and liver disease pathogenesis
PMID: 35806376
6
Loss-of-function GANAB variants are associated with ADPKD diagnosis and account for a subset of genetic causes
PMID: 36573973
7
GANAB is a minor gene for ADPKD and ADPLD, with variants presenting variable kidney and liver cyst phenotypes
PMID: 38097330
Disease Associationsβ“˜21
polycystic kidney disease 3 with or without polycystic liver diseaseOpen Targets
0.79Strong
kidney diseaseOpen Targets
0.69Moderate
Autosomal dominant polycystic kidney diseaseOpen Targets
0.66Moderate
autosomal dominant polycystic liver diseaseOpen Targets
0.51Moderate
Isolated polycystic liver diseaseOpen Targets
0.51Moderate
Biliary tract abnormalityOpen Targets
0.44Moderate
COVID-19Open Targets
0.37Weak
severe acute respiratory syndromeOpen Targets
0.37Weak
genetic disorderOpen Targets
0.19Weak
mathematical abilityOpen Targets
0.14Weak
phototoxic dermatitisOpen Targets
0.14Weak
chronic kidney diseaseOpen Targets
0.12Weak
Renal cystOpen Targets
0.12Weak
congenital myopathy 22B, severe fetalOpen Targets
0.12Weak
prostate cancerOpen Targets
0.10Weak
oral squamous cell carcinomaOpen Targets
0.10Suggestive
irritable bowel syndromeOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.07Suggestive
ulcerative colitisOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.06Suggestive
Polycystic kidney disease 3 with or without polycystic liver diseaseUniProt
Pathogenic Variants57
NM_198334.3(GANAB):c.2443C>T (p.Arg815Ter)Pathogenic
Autosomal dominant polycystic liver disease|not provided|Biliary tract abnormality|Polycystic kidney disease 3 with or without polycystic liver disease
β˜…β˜…β˜†β˜†2026β†’ Residue 815
NM_198334.3(GANAB):c.842dup (p.Asn281fs)Likely pathogenic
Polycystic kidney disease 3 with or without polycystic liver disease
β˜…β˜…β˜†β˜†2025β†’ Residue 281
NM_198334.3(GANAB):c.199_200del (p.Leu67fs)Pathogenic
Polycystic kidney disease 3 with or without polycystic liver disease|GANAB-related disorder|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 67
NM_198334.3(GANAB):c.516_517delinsAT (p.Arg173Ter)Pathogenic
Polycystic kidney disease 3 with or without polycystic liver disease|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 173
NM_198334.3(GANAB):c.2434C>T (p.Arg812Ter)Pathogenic
Polycystic kidney disease 3 with or without polycystic liver disease|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 812
NM_198334.3(GANAB):c.490C>T (p.Arg164Ter)Pathogenic
not provided|Polycystic kidney disease 3 with or without polycystic liver disease
β˜…β˜…β˜†β˜†2024β†’ Residue 164
NM_198334.3(GANAB):c.181C>T (p.Arg61Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 61
NM_198334.3(GANAB):c.2449C>T (p.Arg817Trp)Likely pathogenic
POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE|Polycystic kidney disease 3 with or without polycystic liver disease|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 817
NM_198334.3(GANAB):c.1848_1849del (p.Asp618fs)Pathogenic
Polycystic kidney disease 3 with or without polycystic liver disease|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 618
NM_198334.3(GANAB):c.152_153del (p.Arg51fs)Pathogenic
POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE|Polycystic kidney disease 3 with or without polycystic liver disease|not provided|GANAB-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 51
NM_198334.3(GANAB):c.149dup (p.Arg51fs)Likely pathogenic
Polycystic kidney disease 3 with or without polycystic liver disease
β˜…β˜†β˜†β˜†2026β†’ Residue 51
NM_198334.3(GANAB):c.630+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_198334.3(GANAB):c.2322+1G>ALikely pathogenic
Polycystic kidney disease 3 with or without polycystic liver disease
β˜…β˜†β˜†β˜†2025
NM_198334.3(GANAB):c.1834G>A (p.Gly612Arg)Likely pathogenic
Polycystic kidney disease 3 with or without polycystic liver disease
β˜…β˜†β˜†β˜†2025β†’ Residue 612
NM_198334.3(GANAB):c.1240C>T (p.Gln414Ter)Likely pathogenic
Polycystic kidney disease 3 with or without polycystic liver disease
β˜…β˜†β˜†β˜†2025β†’ Residue 414
NM_198334.3(GANAB):c.2509C>T (p.Gln837Ter)Likely pathogenic
Polycystic kidney disease 3 with or without polycystic liver disease
β˜…β˜†β˜†β˜†2025β†’ Residue 837
NM_198334.3(GANAB):c.1786C>T (p.Arg596Cys)Likely pathogenic
Autosomal dominant polycystic liver disease|Polycystic kidney disease 3 with or without polycystic liver disease
β˜…β˜†β˜†β˜†2024β†’ Residue 596
NM_198334.3(GANAB):c.1387-1G>ALikely pathogenic
Polycystic kidney disease 3 with or without polycystic liver disease
β˜…β˜†β˜†β˜†2024
NM_198334.3(GANAB):c.1495G>T (p.Glu499Ter)Pathogenic
Polycystic kidney disease 3 with or without polycystic liver disease
β˜…β˜†β˜†β˜†2024β†’ Residue 499
NM_198334.3(GANAB):c.1738-1G>ALikely pathogenic
Polycystic kidney disease 3 with or without polycystic liver disease
β˜…β˜†β˜†β˜†2024
View on ClinVar β†—
Related Genes
GANCShared pathway100%HSPA5Protein interaction100%CALRProtein interaction95%CANXProtein interaction95%PDIA3Protein interaction95%P4HBProtein interaction95%
Tissue Expression6 tissues
Liver
100%
Ovary
88%
Lung
75%
Brain
66%
Heart
62%
Bone Marrow
62%
Gene Interaction Network
Click a node to explore
GANABGANCHSPA5CALRCANXPDIA3P4HB
PROTEIN STRUCTURE
Preparing viewer…
PDB8D43 Β· 2.88 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.39Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.29 [0.21–0.39]
RankingsWhere GANAB stands among ~20K protein-coding genes
  • #1,488of 20,598
    Most Researched257 Β· top 10%
  • #1,210of 5,498
    Most Pathogenic Variants57 Β· top quartile
  • #1,912of 17,882
    Most Constrained (LOEUF)0.39 Β· top quartile
Genes detectedGANAB
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.
PMID: 29038287
J Am Soc Nephrol Β· 2018
1.00
2
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
PMID: 34890546
Am J Hum Genet Β· 2022
0.90
3
Exploring antidiabetic drug targets as potential disease-modifying agents in osteoarthritis.
PMID: 39153411
EBioMedicine Β· 2024
0.80
4
Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies.
PMID: 32690722
Clin J Am Soc Nephrol Β· 2021
0.70
5
A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.
PMID: 36938073
Kidney Int Rep Β· 2023
0.64