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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
External Ids for GANAB Gene
- HGNC: 4138
- Entrez Gene: 23193
- Ensembl: ENSG00000089597
- OMIM: 104160
- UniProtKB: Q14697
Previous GeneCards Identifiers for GANAB Gene
- GC11U990054
- GC11M062166
- GC11M062148
- GC11M062430
- GC11M058721
- GC11M062481
- GC11M062675
- GC11M062689
- GC11M062848
- GC11M062966
- GC11M063007
- GC11M063073
- GC11M062718
- GC11M062729
- GC11M062740
- GC11M062756
- GC11M062770
- GC11M062787
- GC11M062814
- GC11M062817
Summaries 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).
-
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.
Additional gene information for GANAB Gene
- HGNC(4138)
- Entrez Gene(23193)
- Ensembl(ENSG00000089597)
- OMIM(104160)
- UniProtKB(Q14697)
- Open Targets Platform(ENSG00000089597)
- Monarch Initiative
- Search for GANAB at DataMed
- Search for GANAB at HumanCyc
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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GANAB
- 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:
-
- 11q12.3 by HGNC
- 11q12.3 by Entrez Gene
- 11q12.3 by Ensembl
GANAB Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
- Miscellaneous:
-
- [Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Protein Expression 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
Other Protein References for GANAB Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences GANAB / Alpha Glucosidase II Antibody
- G Biosciences Immunotag™ Glucosidase II alpha Antibody
- Creative Diagnostics Anti-GANAB monoclonal antibody, clone FQS23487
- Creative Biolabs Recombinant Anti-Human GANAB Antibody and Recombinant Anti-Human GANAB Antibody Fab Fragment
- Novus Biologicals Antibodies for GANAB
-
Abcam antibodies for GANAB
- Invitrogen Antibodies for GANAB (AFLGC-Ganab)
Protein Products
- Creative Biomart Recombinant Human GANAB, His-tagged
- Search Origene for MassSpec and Protein Over-expression Lysates for GANAB
- Origene Custom Protein Services for GANAB
- antibodies-online: Show 9 available GANAB Proteins ranked by validation data
- Compare Top GANAB Proteins
-
Quality Products:
-
Abcam proteins for GANAB
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
Protein Domains for GANAB Gene
- InterPro:
- Blocks:
-
- Glycoside hydrolase, family 31
- ProtoNet:
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- Family:
-
- Belongs to the glycosyl hydrolase 31 family.
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] (N-glucan mannose 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={ECO:0000269|PubMed:10929008};.
- 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={ECO:0000269|PubMed:10929008};.
- 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
| 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 | -- |
Phenotypes for GANAB Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for GANAB
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GANAB - Select products 50% OFF >
- * GANAB CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for GANAB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GANAB
-
Santa Cruz Biotechnology (SCBT) CRISPR for GANAB
miRNA for GANAB Gene
- miRTarBase miRNAs that target GANAB
-
- hsa-miR-1296-5p (MIRT036101)
- hsa-miR-93-3p (MIRT038734)
- hsa-miR-615-3p (MIRT040196)
- hsa-miR-484 (MIRT041824)
- hsa-miR-324-5p (MIRT043197)
- hsa-miR-125b-5p (MIRT046015)
- hsa-miR-23b-3p (MIRT046294)
- hsa-miR-222-3p (MIRT046817)
- hsa-miR-181b-5p (MIRT047273)
- hsa-miR-181a-5p (MIRT047329)
- hsa-miR-34a-5p (MIRT047360)
- hsa-miR-107 (MIRT048291)
- hsa-miR-92a-3p (MIRT049013)
- hsa-miR-17-5p (MIRT050974)
- hsa-miR-3619-5p (MIRT052860)
- hsa-miR-155-5p (MIRT440588)
- hsa-miR-629-3p (MIRT725499)
- hsa-miR-515-5p (MIRT725500)
- hsa-miR-519e-5p (MIRT725501)
- hsa-miR-29a-5p (MIRT725502)
- hsa-miR-497-3p (MIRT725503)
- hsa-miR-136-5p (MIRT725504)
- hsa-miR-16-5p (MIRT727602)
- hsa-miR-195-5p (MIRT727603)
- hsa-miR-15b-5p (MIRT727604)
- hsa-miR-15a-5p (MIRT727605)
- hsa-miR-1273a (MIRT736756)
- hsa-miR-1273c (MIRT736762)
- hsa-miR-1273g-5p (MIRT736835)
- hsa-miR-1291 (MIRT737113)
- hsa-miR-146b-3p (MIRT737647)
- hsa-miR-203a-5p (MIRT738808)
- hsa-miR-29b-2-5p (MIRT739574)
- hsa-miR-3074-5p (MIRT739717)
- hsa-miR-6775-3p (MIRT755353)
- hsa-miR-7152-5p (MIRT759195)
- hsa-miR-7160-3p (MIRT759300)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GANAB
- Browse OriGene Inhibitory RNA Products For GANAB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GANAB
Clone Products
- Applied Biological Materials (abm): Clones for GANAB - Select products 50% OFF >
- * GANAB as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for GANAB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GANAB
Cell Line Products
-
Horizon Cell Lines for GANAB
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}.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| extracellular | 4 |
| golgi apparatus | 4 |
| cytosol | 3 |
| plasma membrane | 2 |
| nucleus | 2 |
| lysosome | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endosome | 1 |
- Endoplasmic reticulum (2)
| 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 |
Pathways & Interactions for GANAB Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Calnexin/calreticulin cycle | ||
| 2 | Metabolism of proteins | ||
| 3 | Metabolism | ||
| 4 | N-Glycan biosynthesis | ||
| 5 | Protein processing in endoplasmic reticulum | ||
Pathways by source for GANAB Gene
3 KEGG pathways for GANAB Gene
UniProtKB/Swiss-Prot Q14697-GANAB_HUMAN
- Pathway: Glycan metabolism; N-glycan metabolism.
Interacting Proteins for GANAB Gene
GPS-Prot Interaction Network for GANAB
| 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 | -- |
No data available for SIGNOR curated interactions for GANAB Gene
Drugs & Compounds for GANAB Gene
| 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) | 99 | ||
| Castanospermine | Experimental | Pharma | Glucosidases alpha and beta inhibitor | 0 |
| 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 |
Transcripts for GANAB Gene
mRNA/cDNA for GANAB Gene
- 10 REFSEQ mRNAs :
- 19 NCBI additional mRNA sequence :
- 17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000346178 3906 nts (view in UCSC)
- ENST00000356638 3835 nts (view in UCSC)
- ENST00000524437 671 nts (view in UCSC)
- ENST00000525994 390 nts (view in UCSC)
- ENST00000526210 533 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GANAB - Select products 50% OFF >
- * GANAB CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for GANAB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GANAB
-
Santa Cruz Biotechnology (SCBT) CRISPR for GANAB
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GANAB
- Browse OriGene Inhibitory RNA Products For GANAB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GANAB
Clone Products
- Applied Biological Materials (abm): Clones for GANAB - Select products 50% OFF >
- * GANAB as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for GANAB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GANAB
| 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
Expression 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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GANAB
SOURCE GeneReport for Unigene cluster for GANAB Gene:
Hs.595071mRNA 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)
- Liver(4.6)
- Intestine(4.5)
- Bone marrow(4.4)
- Lung(4.4)
- Kidney(3.7)
- Skin(3.7)
- Pancreas(3.4)
- Eye(3.3)
- Thyroid gland(2.7)
- Blood(2.6)
- Muscle(2.5)
- Spleen(2.4)
- Stomach(2.4)
- Heart(2.4)
- Lymph node(2.3)
- Adrenal gland(2.2)
Primer Products
-
OriGene qPCR primer pairs for GANAB
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | GANAB 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | GANAB 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | GANAB 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ganab 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ganab 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | GANAB 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ganab 30 |
|
||
| Str.3740 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC100334924 30 |
|
||
| GANAB (1 of 3) 31 |
|
OneToMany | |||
| GANAB (3 of 3) 31 |
|
OneToMany | |||
| GANAB (2 of 3) 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG14476 30 31 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000862 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | aagr-3 30 31 |
|
ManyToMany | |
| aagr-4 31 |
|
ManyToMany | |||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AAR173C 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ROT2 30 31 33 |
|
OneToMany | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F09735g 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | RSW3 30 |
|
||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.3471 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os03g0216600 30 |
|
||
| Os.6168 30 |
|
||||
| Barley (Hordeum vulgare) |
Liliopsida | Hv.10182 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU04203 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | gls2 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3796 30 |
|
- 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
Variants for GANAB Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GANAB Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 492969 | Pathogenic: POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE | 62,626,052(-) | ATTGGTCACT/A | INTRON_VARIANT | |
| 636767 | Uncertain Significance: not provided | 62,626,097(-) | C/G | MISSENSE_VARIANT | |
| 636995 | Uncertain Significance: not provided | 62,639,114(-) | C/A | INTRON_VARIANT | |
| 714409 | Benign: not provided | 62,632,644(-) | T/C | MISSENSE_VARIANT | |
| 716421 | Conflicting Interpretations: Chronic kidney disease; not provided | 62,632,636(-) | G/A | MISSENSE_VARIANT |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GANAB Gene
Disorders for GANAB Gene
(11) MalaCards diseases for GANAB Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| polycystic kidney disease 3 with or without polycystic liver disease |
|
|
| autosomal dominant polycystic kidney disease |
|
|
| polycystic liver disease |
|
|
| liver disease |
|
|
| polycystic kidney disease |
|
|
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
No data available for Genatlas for GANAB Gene
Publications for GANAB Gene
- 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
- 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
- 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
- Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PMID: 17081065) Chi A … Hunt DF (Journal of proteome research 2006) 3 4
- 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
ExternalLinks
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