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GANAB Gene

protein-coding   GIFtS: 59

GC11M058721
glucosidase, alpha; neutral AB
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
glucosidase, alpha; neutral AB1 2     GluII1
KIAA00881 2 3     GLUII2
G2AN1 2 3     alpha glucosidase II alpha subunit2
Glucosidase II subunit alpha2 3     neutral alpha-glucosidase AB2
Alpha-glucosidase 22 3     EC 3.2.1.843

External Ids:    HGNC: 41381   Entrez Gene: 231932   Ensembl: ENSG000000895977   UniProtKB: Q146973   

Export aliases for GANAB gene to outside databases

Previous GC identifers: GC11U990054 GC11M062166 GC11M062148 GC11M062430


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: GANAB_HUMAN, Q14697
Function: Cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2)
oligosaccharide precursor of immature glycoproteins

Gene Wiki entry for GANAB

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GANAB gene promoter:
         CUTL1   c-Myb   Sp1   C/EBPbeta   FAC1   YY1   POU2F1   RP58   NF-1   STAT2   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for GANAB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for GANAB 


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q12.3   Ensembl cytogenetic band:  11q12.3   HGNC cytogenetic band: 11q12.3

GANAB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GANAB gene location

GeneLoc gene densities for chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M058721:  view genomic region     (about GC identifiers)

Start:
58,721,213 bp from pter
End:
58,743,000 bp from pter
Size:
21,788 bases
Orientation:
minus strand

1 alternative location:
Chr11- 62,392,300-62,414,104     
RefSeq DNA sequence:
NC_000011.9  NT_167190.1  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: GANAB_HUMAN, Q14697 (See protein sequence)
Recommended Name: Neutral alpha-glucosidase AB precursor  
Size: 944 amino acids; 106874 Da
Subunit: Heterodimer of a catalytic alpha subunit (GANAB) and a beta subunit (PRKCSH). Binds glycosylated PTPRC (By
similarity)
Subcellular location: Endoplasmic reticulum (By similarity). Golgi apparatus (By similarity). Melanosome.
Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV
Sequence caution: Sequence=AAH65266.1; Type=Erroneous translation; Note=Wrong choice of CDS;
Secondary accessions: A6NC20 Q8WTS9 Q9P0X0
Alternative splicing: 3 isoforms:  Q14697-1   Q14697-2   Q14697-3   

Explore the universe of human proteins at neXtProt for GANAB: NX_Q14697 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_938148.1  NP_938149.2  


    ENSEMBL proteins: 
    ENSP00000340466 ENSP00000349053 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: GANAB
    GenScript Custom Purified and Recombinant Proteins Services for GANAB 
    Novus Biologicals Proteins for GANAB
    Novus Biologicals Lysate for GANAB
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    5 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783 endoplasmic reticulum IEA--
    GO:0005788 endoplasmic reticulum lumen EXP10929008
    GO:0005794 Golgi apparatus IEA--
    GO:0017177 alpha-glucosidase II complex ----
    GO:0042470 melanosome IEA--
    About this table

    GANAB for ontologies           About GeneDecksing



    Antibodies for GANAB: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for GANAB
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for GANAB 
    Novus Biologicals Antibodies for GANAB
    Epitomics antibodies for GANAB

    Assays for GANAB: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for GANAB 
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    GANAB for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR017853 Glyco_hydro_catalytic_core
     IPR000322 Glyco_hydro_31
     IPR011013 Glyco_hydro-type_carb-bd

    Graphical View of Domain Structure for InterPro Entry Q14697

    ProtoNet protein and cluster: Q14697

    1 Blocks protein family: IPB000322 Glycoside hydrolase

    UniProtKB/Swiss-Prot: GANAB_HUMAN, Q14697
    Similarity: Belongs to the glycosyl hydrolase 31 family


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: GANAB_HUMAN, Q14697
    Function: Cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2)
    oligosaccharide precursor of immature glycoproteins
    Catalytic activity: Hydrolysis of terminal (1->3)-alpha-D-glucosidic links in (1->3)-alpha-D-glucans
    Enzyme Number (IUBMB): EC 3.2.1.84 

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for GANAB
    Sigma-Aldrich shRNA for GANAB
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 4): GANAB
    OriGene shRNA RFP (see all 4): GANAB
    OriGene basic RS shRNA (see all 4): GANAB
    OriGene siRNA (see all 3): GANAB
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of GANAB 
    miRNA:Sigma-Aldrich microRNA Mimics for GANAB
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of GANAB 
    2 SABiosciences Assays for microRNAs that regulate GANAB:
    hsa-miR-483-3p hsa-miR-584

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): GANAB
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): GANAB
    OriGene untagged cDNA clones in CMV expression vector (see all 4): GANAB
    OriGene 3'-UTR clone (see all 2): GANAB 
    Browse MicroRNA Expression Plasmids 
    GenScript cDNA clone with any tag delivered in your preferred vector: GANAB 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for GANAB 

    Genatlas biochemistry entry for GANAB:
    glucosidase,alpha-,neutral AB

    5 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA--
    GO:0005515 protein binding IPI17353931
    GO:0016787 hydrolase activity ----
    GO:0030246 carbohydrate binding IEA--
    GO:0033919 glucan 1,3-alpha-glucosidase activity IEA--
    About this table

    GANAB for ontologies           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    GANAB for pathways           About GeneDecksing

    3 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  GANAB
        Starch and Sucrose Metabolism
    N-Glycan Biosynthesis
    Galactose Metabolism

    3 Kegg Pathways  (Kegg details for GANAB):
        hsa00510 N-Glycan biosynthesis
    hsa01100 Metabolic pathways
    hsa04141 Protein processing in endoplasmic reticulum

    UniProtKB/Swiss-Prot: GANAB_HUMAN, Q14697
    Pathway: Glycan metabolism; N-glycan metabolism

        SABiosciences Pathway-Focused PCR Arrays including GANAB: PAHS-046A PAHS-089A 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for GANAB
        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GANAB

    3 Interacting proteins for GANAB (Q146971) via UniProtKB, MINT, and/or STRING

    InteractantInteraction Details
    GeneCardExternal ID(s)
    BAT2P486341EBI-348004,EBI-347545
    ELF3P785451EBI-348004,EBI-1057285
    TRAF6Q9Y4K31EBI-348004,EBI-359276
    About this table

    5 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975 carbohydrate metabolic process IEA--
    GO:0006457 protein folding EXP18303019
    GO:0018279 protein N-linked glycosylation via asparagine TAS--
    GO:0043687 post-translational protein modification TAS--
    GO:0044267 cellular protein metabolic process TAS--
    About this table

    GANAB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section
    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for GANAB available from Tocris Bioscience
    CompoundAction CAS number
    CastanospermineGlucosidases alpha and beta inhibitor[79831-76-8]
    AcarboseGlucosidase alpha inhibitor (intestinal)[56180-94-0]
    Miglustat hydrochlorideCeramide-specific glycosyltransferase inhibitor. Also inhibits alpha-glucosidase I and II[72599-27-0]
    1-DeoxynojirimycinGlucosidase I and II inhibitor[19130-96-2]
    About this table




    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for GANAB
    Sigma-Aldrich shRNA for GANAB
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 4): GANAB
    OriGene shRNA RFP (see all 4): GANAB
    OriGene basic RS shRNA (see all 4): GANAB
    OriGene siRNA (see all 3): GANAB
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of GANAB 
    miRNA: Sigma-Aldrich microRNA Mimics for GANAB
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of GANAB 
    2 SABiosciences Assays for microRNAs that regulate GANAB:
    hsa-miR-483-3p hsa-miR-584
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): GANAB
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): GANAB
    OriGene untagged cDNA clones in CMV expression vector (see all 4): GANAB
    OriGene 3'-UTR Clone (see all 2): GANAB 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript cDNA clone with any tag delivered in your preferred vector: GANAB 
    Primers: OriGene genome-wide validated SYBR primer pairs: GANAB
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for GANAB: PPH10034A

    REFSEQ mRNAs for GANAB gene (2 alternative transcripts): 

    NM_198334.1  NM_198335.2  

    Additional cDNA sequence: 

    AF144074.1 AJ000332.1 AK026548.1 AK026567.1 AK026997.1 AK295806.1 AK299819.1 AK302752.1 
    AK314370.1 BC017433.2 BC017435.2 BC034439.1 BC065266.1 CR592838.1 CR604770.1 CR609998.1 
    CR612897.1 CR622917.1 D42041.1 

    24/47 DOTS entries (see all 47):

    DT.100881206  DT.451541  DT.95309026  DT.97818996  DT.95316197  DT.95316278  DT.100881216  DT.100881208 
    DT.120710090  DT.97786093  DT.92461632  DT.100772264  DT.92461650  DT.86843276  DT.100881204  DT.120710067 
    DT.120710093  DT.95316179  DT.100731848  DT.100881200  DT.100881209  DT.91825447  DT.120709935  DT.120709978 

    24/914 AceView cDNA sequences (see all 914):

    AL708604 AI291493 BG674728 BM562645 AW844983 AI554326 BU845648 BE794130 
    BQ887085 AW467204 BP364387 BU689446 BU553449 BU627473 CA489386 BQ052775 
    BF930637 BM819154 BF032347 BM976704 CN481698 AU132254 BQ901028 BM451947 

    highest scoring ESTs for GANAB:

    D42041 AF144074 AJ000332 AK026997 AU127520 AU128103 AU128952 AU130005 AU130711 AU130729 

    Unigene Cluster for GANAB:

    Glucosidase, alpha; neutral AB
    Hs.595071  [show with all ESTs]
    Unigene Representative Sequence: NM_198335


    GeneLoc Exon Structure

    5/17 Alternative Splicing Database (ASD) splice patterns (SP) for GANAB (see all 17)

    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:                                                              -                 -     -                                                                     

    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:                                                                                                                  

    About this scheme

    ECgene alternative splicing isoforms for GANAB
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000346178(uc001ntz.2 uc001nua.2 uc001nub.2 uc001nuc.2 uc010rma.1 uc010rmb.1)
    ENST00000356638

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    GANAB expression in normal and diseased human tissues

    1  / 2  / 3

    6 probe-sets matching GANAB gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    37040_at2, 3 U95-A 1 1.00 1.00 0.95 0.92 D42041 1.00 1.00 1.00 1
    58894_f_at2, 3 U95-C 1 0.62 1.00 0.94 1.08 AW008191 0.40 1.00 0.76 1
    214626_s_at2, 3 U133-A 1 1.00 1.00 -- -- AK026548 0.40 1.00 0.76 1
    211934_x_at2, 3 U133-A 1 1.00 1.00 -- -- W87689 0.40 1.00 0.76 1
    214626_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    211934_x_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table

    GANAB for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    GANAB gene expression
    GANAB gene electronic northern expression
    GANAB gene sage expression
    About these images

    CGAP SAGE TAG: TGTGCTCGGG

    SOURCE GeneReport for Unigene cluster: Hs.595071

    Expression variation in blood from EXPOLDB for GANAB

    UniProtKB/Swiss-Prot: GANAB_HUMAN, Q14697
    Tissue specificity: Detected in placenta

    Primers: OriGene genome-wide validated SYBR primer pairs: GANAB
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for GANAB: PPH10034A
        SABiosciences Expression via Pathway-Focused PCR Arrays including GANAB: PAHS-046A PAHS-089A 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for GANAB gene from 5/21 species (see all 21)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    GANAB1   -- glucosidase, alpha; neutral AB 90.99(n)
    93.17(a)
    483784  XM_540905.2  XP_540905.2 
    chimpanzee
    (Pan troglodytes)
    GANAB1   -- glucosidase, alpha; neutral AB 99.62(n)
    99.59(a)
    451258  XM_508494.2  XP_508494.2 
    cow
    (Bos taurus)
    GANAB1   -- glucosidase, alpha; neutral AB 89.75(n)
    92.44(a)
    540155  XM_591861.3  XP_591861.3 
    rat
    (Rattus norvegicus)
    Ganab1   -- glucosidase, alpha; neutral AB 87.13(n)
    90.79(a)
    293721  XM_215144.4  XP_215144.3 
    mouse
    (Mus musculus)
    Ganab1 , 5 19 (5.96 cM)5
    alpha glucosidase 2 alpha neutral subunit1, 5 87.72(n)1
    91.93(a)1
    143761  NM_008060.11  NP_032086.11 
     AA1034635  AK0178735  (see all 30)
    About this table        Species with no ortholog for GANAB

    ENSEMBL Gene Tree for GANAB (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for GANAB gene
    ENSG000002049872  GAA2  SI2  MGAM2  GANC2  

    GANAB for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/202 NCBI SNPs in GANAB are shown (see all 202)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 11 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs69161,2
    C62392876(-) TTAGGG/TCTCCT 2 -- ut31 ese35Minor allele frequency- T:0.01MN NS EA 604
    rs4898861,2
    --62412974(-) ctggaC/Gtgcag 2 -- int10--------
    rs5117501,2
    --62412933(-) cctccC/Tgggtt 2 -- int10--------
    rs5119121,2
    --62412880(-) caggcA/Gcccgc 2 -- int10--------
    rs5291701,2
    --62406244(-) attatG/Tgcttt 2 -- int10--------
    rs6626041,2
    --62412865(-) acgccC/Tggcta 2 -- int10--------
    rs6626111,2
    --62412859(-) ggctaA/Tttttt 2 -- int10--------
    rs9486831,2
    C,F,A,H,62397177(-) TACCCC/GTCTCT 2 -- int110Minor allele frequency- G:0.07NS EA NA WA 516
    rs10634451,2
    C,F,62400108(-) CTCATC/TGCGAC 4 R C ref1 mis1 ese311Minor allele frequency- T:0.01NA NS EA 980
    rs18158351,2
    --62392701(-) TTCTAC/TCCTTT 2 -- ut31 trp33Minor allele frequency- T:0.00NA EA 252
    About this table

    HapMap Linkage Disequilibrium images for GANAB (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for GANAB
         1 CNV: 4749

    QIAGEN SeqTarget long-range PCR primers for resequencing GANAB 

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    GANAB for disorders           About GeneDecksing

    OMIM: 104160


    Export disorders and mutations for GANAB gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/55 PubMed articles for GANAB gene, integrated from 7 sources (see all 55):
    (articles sorted by number of sources associating them with GANAB)
    1. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (2006)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. The alpha- and beta-subunits are required for express ion of catalytic activity in the hetero-dimeric glucosidase II complex from hum an liver. (PubMed id 10764838)1, 3 Treml K....Bause E. (2000)
    4. The heterodimeric structure of glucosidase II is required for its activity, solubility, and localization in vivo. (PubMed id 10929008)1, 2 Pelletier M.F.... Thomas D.Y. (2000)
    5. Endoplasmic reticulum glucosidase II is composed of a catalytic subunit, conserved from yeast to mammals, and a tightly bound noncatalytic HDEL-containing subunit. (PubMed id 8910335)1, 2 Trombetta E.S.... Helenius A. (1996)
    6. Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1. (PubMed id 7788527)1, 2 Nagase T....Kotani H. (1995)
    7. Identity of neutral alpha-glucosidase AB and the glycoprotein processing enzyme glucosidase II. Biochemical and genetic studies. (PubMed id 3881423)1, 2 Martiniuk F.... Hirschhorn R. (1985)
    8. Assignment of the gene for neutral alpha-glucosidase AB to chromosome 11. (PubMed id 6342981)1, 3 Martiniuk F....Hirschhorn R. (1983)
    9. Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (2010)
    10. Correlation between neutral alpha-glucosidase activit y and sperm DNA fragmentation. (PubMed id 19737279)1 Watanabe M....Jeyendran R.S. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23193 HGNC: 4138 AceView: GANAB Ensembl:ENSG00000089597 euGenes: HUgn23193
    ECgene: GANAB Kegg: 23193 H-InvDB: GANAB

    (According to HUGE)
    About This Section
    HUGE: KIAA0088

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    Patent Information for GANAB gene:
    Search GeneIP for patents involving GANAB

    GeneCards and IP:
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