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... See more...

Aliases for GANAB Gene

Aliases for GANAB Gene

  • Glucosidase II Alpha Subunit 2 3 5
  • Neutral Alpha-Glucosidase AB 2 3 4
  • Alpha-Glucosidase 2 3 4
  • G2AN 3 4
  • Glucosidase, Alpha; Neutral AB 2
  • Glucosidase II Subunit Alpha 4
  • EC 3.2.1.207 4
  • EC 3.2.1.84 54
  • KIAA0088 4
  • EC 3.2.1 54
  • GLUII 3
  • GIIA 3
  • PKD3 3

External Ids for GANAB Gene

Previous GeneCards Identifiers for GANAB Gene

  • GC11U990054
  • GC11M062166
  • GC11M062148
  • GC11M062430
  • GC11M058721
  • GC11M062481
  • GC11M062675
  • GC11M062689
  • GC11M062848
  • GC11M062966
  • GC11M062718
  • GC11M062729
  • GC11M062740
  • GC11M062756
  • GC11M062770
  • GC11M062787
  • GC11M062814
  • GC11M062817

Summaries for GANAB Gene

Entrez Gene Summary for GANAB Gene

  • 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]

GeneCards Summary for GANAB Gene

GANAB (Glucosidase II Alpha Subunit) is a Protein Coding gene. Diseases associated with GANAB include Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease and Autosomal Dominant Polycystic Kidney Disease. Among its related pathways are Calnexin/calreticulin cycle and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds. An important paralog of this gene is GANC.

UniProtKB/Swiss-Prot Summary for GANAB Gene

  • Catalytic subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins (PubMed:10929008). Required for PKD1/Polycystin-1 and PKD2/Polycystin-2 maturation and localization to the cell surface and cilia (PubMed:27259053).

Tocris Summary for GANAB Gene

  • Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic linkages, liberating alpha-glucose and beta-glucose.

Gene Wiki entry for GANAB Gene

Additional gene information for GANAB Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GANAB Gene

Genomics for GANAB Gene

GeneHancer (GH) Regulatory Elements for GANAB Gene

Promoters and enhancers for GANAB Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GANAB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GANAB gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • E47
  • Max1
  • NF-1
  • PPAR-alpha
  • Sp1
  • Tal-1
  • TBP

Genomic Locations for GANAB Gene

Genomic Locations for GANAB Gene
chr11:62,624,826-62,646,726
(GRCh38/hg38)
Size:
21,901 bases
Orientation:
Minus strand
chr11:62,392,298-62,414,104
(GRCh37/hg19)
Size:
21,807 bases
Orientation:
Minus strand

Genomic View for GANAB Gene

Genes around GANAB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GANAB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GANAB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GANAB Gene

Proteins for GANAB Gene

  • Protein details for GANAB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14697-GANAB_HUMAN
    Recommended name:
    Neutral alpha-glucosidase AB
    Protein Accession:
    Q14697
    Secondary Accessions:
    • A6NC20
    • Q8WTS9
    • Q9P0X0

    Protein attributes for GANAB Gene

    Size:
    944 amino acids
    Molecular mass:
    106874 Da
    Quaternary structure:
    • Heterodimer of a catalytic alpha subunit (GANAB) and a beta subunit (PRKCSH) (PubMed:10929008). Binds glycosylated PTPRC (By similarity).
    SequenceCaution:
    • Sequence=AAH65266.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Alternative splice isoforms for GANAB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GANAB Gene

Selected DME Specific Peptides for GANAB Gene

Q14697:
  • RAFFAGSQR
  • IVDPHIK
  • LKISIPM
  • GELFLDDGHTFNY
  • WNDMNEPS
  • ARLSVSG
  • GSQRFGAVWTGDNTAEWDHLKISIPMCLSL
  • YVHMATADGL
  • AAVAARRRRSW
  • WNDMNEPSVFNGPEV
  • GAYQPFFR
  • YRLYNLDV
  • PFRLDLLEDRSLLLSVNARGL
  • GGWEHRD
  • FSLGYHQ
  • PFFRAHAH
  • FEHQRAPRV

Post-translational modifications for GANAB Gene

  • Glycosylation at Asn97
  • Ubiquitination at Lys48, Lys269, Lys462, Lys472, Lys491, Lys899, Lys908, and Lys930
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • GANAB_HUMAN (1560)

Domains & Families for GANAB Gene

Gene Families for GANAB Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for GANAB Gene

GenScript: Design optimal peptide antigens:
  • Glucosidase II subunit alpha (GANAB_HUMAN)
  • GANAB protein (Q9BS14_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14697

UniProtKB/Swiss-Prot:

GANAB_HUMAN :
  • Belongs to the glycosyl hydrolase 31 family.
Family:
  • Belongs to the glycosyl hydrolase 31 family.
genes like me logo Genes that share domains with GANAB: view

Function for GANAB Gene

Molecular function for GANAB Gene

UniProtKB/Swiss-Prot Function:
Catalytic subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins (PubMed:10929008). Required for PKD1/Polycystin-1 and PKD2/Polycystin-2 maturation and localization to the cell surface and cilia (PubMed:27259053).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N(4)-(alpha-D-Glc-(1->3)-alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-alpha-D-GlcNAc)-L-asparaginyl-[protein] = beta-D-glucose + N(4)-(alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-alpha-D-GlcNAc)-L-asparaginyl-[protein] (isomer 9A1,2,3B1,2,3); Xref=Rhea:RHEA:56000, Rhea:RHEA-COMP:14356, Rhea:RHEA-COMP:14357, ChEBI:CHEBI:15377, ChEBI:CHEBI:15903, ChEBI:CHEBI:59080, ChEBI:CHEBI:139493; EC=3.2.1.207; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N(4)-(alpha-D-Glc-(1->3)-alpha-D-Glc-(1->3)-alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-alpha-D-GlcNAc)-L-asparaginyl-[protein] = beta-D-glucose + N(4)-(alpha-D-Glc-(1->3)-alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-alpha-D-GlcNAc)-L-asparaginyl-[protein]; Xref=Rhea:RHEA:55996, Rhea:RHEA-COMP:14355, Rhea:RHEA-COMP:14357, ChEBI:CHEBI:15377, ChEBI:CHEBI:15903, ChEBI:CHEBI:59080, ChEBI:CHEBI:59082; EC=3.2.1.207; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by deoxynojirimycin.
GENATLAS Biochemistry:
glucosidase,alpha-,neutral AB

Enzyme Numbers (IUBMB) for GANAB Gene

Phenotypes From GWAS Catalog for GANAB Gene

Gene Ontology (GO) - Molecular Function for GANAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003824 catalytic activity IEA --
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA --
GO:0005515 protein binding IPI 10929008
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with GANAB: view
genes like me logo Genes that share phenotypes with GANAB: view

Human Phenotype Ontology for GANAB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for GANAB

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GANAB

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for GANAB Gene

Localization for GANAB Gene

Subcellular locations from UniProtKB/Swiss-Prot for GANAB Gene

Endoplasmic reticulum. Golgi apparatus. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269 PubMed:17081065}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GANAB gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 3
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1
nucleus 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Endoplasmic reticulum (2)
  • Nuclear membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GANAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane HDA 19946888
GO:0017177 glucosidase II complex IDA 10929008
genes like me logo Genes that share ontologies with GANAB: view

Pathways & Interactions for GANAB Gene

genes like me logo Genes that share pathways with GANAB: view

UniProtKB/Swiss-Prot Q14697-GANAB_HUMAN

  • Pathway: Glycan metabolism; N-glycan metabolism.

Gene Ontology (GO) - Biological Process for GANAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006457 protein folding TAS --
GO:0006491 N-glycan processing IDA 10929008
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with GANAB: view

No data available for SIGNOR curated interactions for GANAB Gene

Drugs & Compounds for GANAB Gene

(10) Drugs for GANAB Gene - From: DrugBank, ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Miglitol Approved Pharma Target, antagonist 13
D-glucose Approved, Investigational, Vet_approved Pharma 0
Water Approved Pharma 0
Acarbose Approved, Investigational Pharma Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) 97
Castanospermine Experimental Pharma Glucosidases alpha and beta inhibitor 0

(1) Additional Compounds for GANAB Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Miglustat hydrochloride
210110-90-0

(5) Tocris Compounds for GANAB Gene

Compound Action Cas Number
1-Deoxymannojirimycin hydrochloride alpha-Mannosidase I inhibitor 73465-43-7
1-Deoxynojirimycin Glucosidase I and II inhibitor 19130-96-2
Acarbose Glucosidase alpha inhibitor (intestinal) 56180-94-0
Castanospermine Glucosidases alpha and beta inhibitor 79831-76-8
Miglustat hydrochloride alpha-glucosidase I and II inhibitor. Also inhibits ceramide-specific glycosyltransferases 210110-90-0

(3) ApexBio Compounds for GANAB Gene

Compound Action Cas Number
N-Nonyldeoxynojirimycin 81117-35-3
Sinensetin α-glucosidase inhibitor, selective 2306-27-6
Voglibose α-glucosidases inhibitor 83480-29-9
genes like me logo Genes that share compounds with GANAB: view

Transcripts for GANAB Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GANAB

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GANAB Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a ·
SP1: - - - - -
SP2: - - - - - -
SP3: - - -
SP4: - - -
SP5: - - -
SP6: - -
SP7: - - - -
SP8: - - - -
SP9:
SP10:
SP11: - -
SP12: - - - - -
SP13: - - - -
SP14:
SP15:
SP16: - - - - - - -
SP17: -

ExUns: 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25a · 25b · 25c
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for GANAB Gene

GeneLoc Exon Structure for
GANAB
ECgene alternative splicing isoforms for
GANAB

Expression for GANAB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GANAB Gene

Protein differential expression in normal tissues from HIPED for GANAB Gene

This gene is overexpressed in Lymph node (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GANAB Gene



Protein tissue co-expression partners for GANAB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GANAB Gene:

GANAB

SOURCE GeneReport for Unigene cluster for GANAB Gene:

Hs.595071

mRNA Expression by UniProt/SwissProt for GANAB Gene:

Q14697-GANAB_HUMAN
Tissue specificity: Detected in placenta (PubMed:3881423). Isoform 1 and isoform 2 are expressed in the kidney and liver (PubMed:27259053).

Evidence on tissue expression from TISSUES for GANAB Gene

  • Nervous system(5)
  • Intestine(4.6)
  • Liver(4.5)
  • Bone marrow(4.3)
  • Lung(4.2)
  • Kidney(3.4)
  • Eye(3.1)
  • Pancreas(3.1)
  • Skin(3.1)
  • Thyroid gland(2.7)
  • Stomach(2.4)
  • Blood(2.1)
  • Muscle(2)
genes like me logo Genes that share expression patterns with GANAB: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GANAB Gene

Orthologs for GANAB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GANAB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GANAB 33 32
  • 99.59 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GANAB 33 32
  • 90.91 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GANAB 33 32
  • 89.75 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ganab 17 33 32
  • 87.62 (n)
rat
(Rattus norvegicus)
Mammalia Ganab 32
  • 87.35 (n)
oppossum
(Monodelphis domestica)
Mammalia GANAB 33
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 20 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 65 (a)
OneToMany
-- 33
  • 63 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ganab 32
  • 65.6 (n)
Str.3740 32
zebrafish
(Danio rerio)
Actinopterygii LOC100334924 32
  • 66.53 (n)
GANAB (1 of 3) 33
  • 66 (a)
OneToMany
GANAB (3 of 3) 33
  • 64 (a)
OneToMany
GANAB (2 of 3) 33
  • 59 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG14476 33 32
  • 55.02 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000862 32
  • 53.8 (n)
worm
(Caenorhabditis elegans)
Secernentea aagr-3 33 32
  • 52.11 (n)
ManyToMany
aagr-4 33
  • 45 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR173C 32
  • 47.55 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ROT2 35 33 32
  • 47.12 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F09735g 32
  • 47.11 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons RSW3 32
  • 53.53 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3471 32
rice
(Oryza sativa)
Liliopsida Os03g0216600 32
  • 56.51 (n)
Os.6168 32
barley
(Hordeum vulgare)
Liliopsida Hv.10182 32
bread mold
(Neurospora crassa)
Ascomycetes NCU04203 32
  • 52.05 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gls2 32
  • 49.28 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 49 (a)
OneToMany
Cin.3796 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3796 32
Species where no ortholog for GANAB was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GANAB Gene

ENSEMBL:
Gene Tree for GANAB (if available)
TreeFam:
Gene Tree for GANAB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GANAB: view image

Paralogs for GANAB Gene

Paralogs for GANAB Gene

(2) SIMAP similar genes for GANAB Gene using alignment to 6 proteins:

  • GANAB_HUMAN
  • E9PKU7_HUMAN
  • E9PNH1_HUMAN
  • E9PQ69_HUMAN
  • F5H6X6_HUMAN
  • Q9BS14_HUMAN
genes like me logo Genes that share paralogs with GANAB: view

Variants for GANAB Gene

Sequence variations from dbSNP and Humsavar for GANAB Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1210158408 pathogenic, Polycystic liver disease 62,626,369(-) G/A/T coding_sequence_variant, stop_gained, synonymous_variant
rs1465649718 pathogenic, Polycystic liver disease 62,629,653(-) C/G/T coding_sequence_variant, missense_variant
rs1565088616 pathogenic, Polycystic liver disease 62,626,639(-) G/A coding_sequence_variant, stop_gained
rs1565092566 likely-pathogenic, Polycystic liver disease 62,629,009(-) T/C coding_sequence_variant, missense_variant
rs1565092899 pathogenic, Polycystic liver disease 62,629,193(-) C/G splice_donor_variant

Structural Variations from Database of Genomic Variants (DGV) for GANAB Gene

Variant ID Type Subtype PubMed ID
esv3584599 CNV gain 24956385
nsv555174 CNV gain 21841781
nsv825939 CNV gain 20364138
nsv832182 CNV gain+loss 17160897

Variation tolerance for GANAB Gene

Residual Variation Intolerance Score: 27.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.24; 62.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GANAB Gene

Human Gene Mutation Database (HGMD)
GANAB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GANAB

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GANAB Gene

Disorders for GANAB Gene

MalaCards: The human disease database

(11) MalaCards diseases for GANAB Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GANAB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GANAB_HUMAN
  • Polycystic kidney disease 3 with or without polycystic liver disease (PKD3) [MIM:600666]: A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occur in other organs, particularly the liver. PKD3 inheritance is autosomal dominant. {ECO:0000269 PubMed:27259053}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=GANAB variations may act as a disease modifier in autosomal dominant polycystic liver disease in patients who have causative mutations in other genes, such as PKHD1 or ALG8. {ECO:0000269 PubMed:28375157}.

Additional Disease Information for GANAB

genes like me logo Genes that share disorders with GANAB: view

No data available for Genatlas for GANAB Gene

Publications for GANAB Gene

  1. Identity of neutral alpha-glucosidase AB and the glycoprotein processing enzyme glucosidase II. Biochemical and genetic studies. (PMID: 3881423) Martiniuk F … Hirschhorn R (The Journal of biological chemistry 1985) 2 3 4 56
  2. Isolated polycystic liver disease genes define effectors of polycystin-1 function. (PMID: 28375157) Besse W … Somlo S (The Journal of clinical investigation 2017) 3 4 56
  3. Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. (PMID: 27259053) Porath B … Harris PC (American journal of human genetics 2016) 3 4 56
  4. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PMID: 17081065) Chi A … Hunt DF (Journal of proteome research 2006) 3 4 56
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56

Products for GANAB Gene