Human Gene GANAB (uc001nua.4)
  Description: Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.
RefSeq Summary (NM_198335): 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].
Transcript (Including UTRs)
   Position: hg19 chr11:62,392,298-62,414,198 Size: 21,901 Total Exon Count: 25 Strand: -
Coding Region
   Position: hg19 chr11:62,393,287-62,414,071 Size: 20,785 Coding Exon Count: 25 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:62,392,298-62,414,198)mRNA (may differ from genome)Protein (966 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCHPRDLynxMalacardsMGI
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GANAB
Diseases sorted by gene-association score: polycystic kidney disease 3* (1230), polycyctic kidney disease 3* (100), polycystic liver disease (9), polycystic kidney disease (9), glycogen storage disease ii (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 141.87 RPKM in Cells - Cultured fibroblasts
Total median expression: 3040.51 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -43.50127-0.343 Picture PostScript Text
3' UTR -355.20989-0.359 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF01055 - Glycosyl hydrolases family 31
PF13802 - Galactose mutarotase-like

SCOP Domains:
51445 - (Trans)glycosidases

ModBase Predicted Comparative 3D Structure on Q14697-2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  LF211234 - JP 2014500723-A/18737: Polycomb-Associated Non-Coding RNAs.
EU794613 - Homo sapiens epididymis secretory sperm binding protein Li 164nA (HEL-S-164nA) mRNA, complete cds.
D42041 - Homo sapiens KIAA0088 mRNA, partial cds.
AK026567 - Homo sapiens cDNA: FLJ22914 fis, clone KAT06317.
BC005405 - Homo sapiens glucosidase, alpha; neutral AB, mRNA (cDNA clone IMAGE:3458604), partial cds.
AK026548 - Homo sapiens cDNA: FLJ22895 fis, clone KAT04940.
BC065266 - Homo sapiens glucosidase, alpha; neutral AB, mRNA (cDNA clone MGC:70558 IMAGE:6155944), complete cds.
BC017433 - Homo sapiens glucosidase, alpha; neutral AB, mRNA (cDNA clone IMAGE:2959208), partial cds.
BC017435 - Homo sapiens glucosidase, alpha; neutral AB, mRNA (cDNA clone IMAGE:2959208), partial cds.
LF344813 - JP 2014500723-A/152316: Polycomb-Associated Non-Coding RNAs.
BC034439 - Homo sapiens glucosidase, alpha; neutral AB, mRNA (cDNA clone IMAGE:4538370).
LF344812 - JP 2014500723-A/152315: Polycomb-Associated Non-Coding RNAs.
AK026997 - Homo sapiens cDNA: FLJ23344 fis, clone HEP13643.
LF344811 - JP 2014500723-A/152314: Polycomb-Associated Non-Coding RNAs.
LF344810 - JP 2014500723-A/152313: Polycomb-Associated Non-Coding RNAs.
AK295899 - Homo sapiens cDNA FLJ61290 complete cds, highly similar to Neutral alpha-glucosidase AB precursor.
LF344808 - JP 2014500723-A/152311: Polycomb-Associated Non-Coding RNAs.
AK302752 - Homo sapiens cDNA FLJ59643 complete cds, highly similar to Neutral alpha-glucosidase AB precursor.
AK299819 - Homo sapiens cDNA FLJ54057 complete cds, highly similar to Neutral alpha-glucosidase AB precursor.
AK295806 - Homo sapiens cDNA FLJ54035 complete cds, highly similar to Neutral alpha-glucosidase AB precursor.
AJ000332 - Homo sapiens mRNA for glucosidase II.
AK314370 - Homo sapiens cDNA, FLJ95138.
AF144074 - Homo sapiens glucosidase II alpha subunit mRNA, complete cds.
AB383744 - Synthetic construct DNA, clone: pF1KSDA0088, Homo sapiens GANAB gene for neutral alpha-glucosidase AB precursor, complete cds, without stop codon, in Flexi system.
KJ902298 - Synthetic construct Homo sapiens clone ccsbBroadEn_11692 GANAB gene, encodes complete protein.
LF344805 - JP 2014500723-A/152308: Polycomb-Associated Non-Coding RNAs.
LF344804 - JP 2014500723-A/152307: Polycomb-Associated Non-Coding RNAs.
LF344802 - JP 2014500723-A/152305: Polycomb-Associated Non-Coding RNAs.
LF344801 - JP 2014500723-A/152304: Polycomb-Associated Non-Coding RNAs.
JD024353 - Sequence 5377 from Patent EP1572962.
JD031093 - Sequence 12117 from Patent EP1572962.
LF344799 - JP 2014500723-A/152302: Polycomb-Associated Non-Coding RNAs.
LF344798 - JP 2014500723-A/152301: Polycomb-Associated Non-Coding RNAs.
LF344797 - JP 2014500723-A/152300: Polycomb-Associated Non-Coding RNAs.
LF344796 - JP 2014500723-A/152299: Polycomb-Associated Non-Coding RNAs.
LF344794 - JP 2014500723-A/152297: Polycomb-Associated Non-Coding RNAs.
LF344793 - JP 2014500723-A/152296: Polycomb-Associated Non-Coding RNAs.
LF344787 - JP 2014500723-A/152290: Polycomb-Associated Non-Coding RNAs.
LF344785 - JP 2014500723-A/152288: Polycomb-Associated Non-Coding RNAs.
LF344784 - JP 2014500723-A/152287: Polycomb-Associated Non-Coding RNAs.
LF344783 - JP 2014500723-A/152286: Polycomb-Associated Non-Coding RNAs.
LF344780 - JP 2014500723-A/152283: Polycomb-Associated Non-Coding RNAs.
MA580390 - JP 2018138019-A/152316: Polycomb-Associated Non-Coding RNAs.
MA580389 - JP 2018138019-A/152315: Polycomb-Associated Non-Coding RNAs.
MA580388 - JP 2018138019-A/152314: Polycomb-Associated Non-Coding RNAs.
MA580387 - JP 2018138019-A/152313: Polycomb-Associated Non-Coding RNAs.
MA580385 - JP 2018138019-A/152311: Polycomb-Associated Non-Coding RNAs.
MA580382 - JP 2018138019-A/152308: Polycomb-Associated Non-Coding RNAs.
MA580381 - JP 2018138019-A/152307: Polycomb-Associated Non-Coding RNAs.
MA580379 - JP 2018138019-A/152305: Polycomb-Associated Non-Coding RNAs.
MA580378 - JP 2018138019-A/152304: Polycomb-Associated Non-Coding RNAs.
MA580376 - JP 2018138019-A/152302: Polycomb-Associated Non-Coding RNAs.
MA580375 - JP 2018138019-A/152301: Polycomb-Associated Non-Coding RNAs.
MA580374 - JP 2018138019-A/152300: Polycomb-Associated Non-Coding RNAs.
MA580373 - JP 2018138019-A/152299: Polycomb-Associated Non-Coding RNAs.
MA580371 - JP 2018138019-A/152297: Polycomb-Associated Non-Coding RNAs.
MA580370 - JP 2018138019-A/152296: Polycomb-Associated Non-Coding RNAs.
MA580364 - JP 2018138019-A/152290: Polycomb-Associated Non-Coding RNAs.
MA580362 - JP 2018138019-A/152288: Polycomb-Associated Non-Coding RNAs.
MA580361 - JP 2018138019-A/152287: Polycomb-Associated Non-Coding RNAs.
MA580360 - JP 2018138019-A/152286: Polycomb-Associated Non-Coding RNAs.
MA580357 - JP 2018138019-A/152283: Polycomb-Associated Non-Coding RNAs.
MA446811 - JP 2018138019-A/18737: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00510 - N-Glycan biosynthesis
hsa01100 - Metabolic pathways

BioCarta from NCI Cancer Genome Anatomy Project
h_eradPathway - ER¿associated degradation (ERAD) Pathway

Reactome (by CSHL, EBI, and GO)

Protein Q14697 (Reactome details) participates in the following event(s):

R-HSA-532667 Removal of the second glucose by glucosidase II
R-HSA-548890 Removal of the third glucose by glucosidase II and release from the chaperone
R-HSA-532668 N-glycan trimming in the ER and Calnexin/Calreticulin cycle
R-HSA-901042 Calnexin/calreticulin cycle
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: G2AN, KIAA0088, NM_198335, NP_938149, Q14697-2, uc001nua.3
UCSC ID: uc001nua.4
RefSeq Accession: NM_198335
Protein: Q14697-2, splice isoform of Q14697 CCDS: CCDS8026.1, CCDS41656.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene GANAB:
pkd-ad (Polycystic Kidney Disease, Autosomal Dominant)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_198335.3
exon count: 25CDS single in 3' UTR: no RNA size: 4026
ORF size: 2901CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5959.00frame shift in genome: no % Coverage: 99.78
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.