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GANC Gene

protein-coding   GIFtS: 54
GCID: GC15P042566

Glucosidase, Alpha; Neutral C

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Glucosidase, Alpha; Neutral C1 2
Neutral Alpha-Glucosidase C2
EC 3.2.1.203
EC 3.2.18

External Ids:    HGNC: 41391   Entrez Gene: 25952   Ensembl: ENSG000002140137   OMIM: 1041805   UniProtKB: Q8TET43   

Export aliases for GANC gene to outside databases

Previous GC identifers: GC15U990022 GC15P040282 GC15P040354 GC15P019414


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GANC Gene:
Glycosyl hydrolase enzymes hydrolyse the glycosidic bond between two or more carbohydrates, or between a
carbohydrate and a non-carbohydrate moiety. This gene encodes a member of glycosyl hydrolases family 31. This
enzyme hydrolyses terminal, non-reducing 1,4-linked alpha-D-glucose residues and releases alpha-D-glucose. This
is a key enzyme in glycogen metabolism and its gene localizes to a chromosomal region (15q15) that is associated
with susceptibility to diabetes. (provided by RefSeq, Jul 2008)

GeneCards Summary for GANC Gene:
GANC (glucosidase, alpha; neutral C) is a protein-coding gene. Diseases associated with GANC include glycogen storage disease ii, and congenital dyserythropoietic anemia type i. GO annotations related to this gene include carbohydrate binding and maltose alpha-glucosidase activity. An important paralog of this gene is SI.

UniProtKB/Swiss-Prot: GANC_HUMAN, Q8TET4
Function: Has alpha-glucosidase activity

summary for GANC Gene:
Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two
glucosidase subtypes, alpha- and beta-glucosidase (EC numbers 3.2.1.20 and 3.2.1.21 respectively), which are
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 respectively.

Gene Wiki entry for GANC Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the GANC gene promoter:
         Pax-6   CUTL1   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   GATA-1   MEF-2A   POU2F1   POU2F1a   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGANC promoter sequence
   Search Chromatin IP Primers for GANC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GANC


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

Entrez Gene cytogenetic band: 15q15.2   Ensembl cytogenetic band:  15q15.1   HGNC cytogenetic band: 15q15.2

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

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P042566:  view genomic region     (about GC identifiers)

Start:
42,565,431 bp from pter      End:
42,645,864 bp from pter
Size:
80,434 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GANC_HUMAN, Q8TET4 (See protein sequence)
Recommended Name: Neutral alpha-glucosidase C  
Size: 914 amino acids; 104334 Da
Sequence caution: Sequence=BAB84863.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q52LQ4 Q8IWZ0 Q8IZM4 Q8IZM5

Explore the universe of human proteins at neXtProt for GANC: NX_Q8TET4

Explore proteomics data for GANC at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GANC (Q8TET4) (see all 8)
     FSLGYHQ  LKISIPM  WNDMNEPS  LHNIYGFY 


    See GANC Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_937784.2  
    ENSEMBL proteins: 
     ENSP00000454816   ENSP00000454578   ENSP00000454449   ENSP00000454747   ENSP00000399557  
     ENSP00000326227   ENSP00000455872   ENSP00000456360   ENSP00000457604   ENSP00000455511  

    GANC Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for GANC
    GenScript Custom Purified and Recombinant Proteins Services for GANC
    Novus Biologicals GANC Proteins
    Novus Biologicals GANC Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    GANC Antibody Products:

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    LSBio Antibodies in human, mouse, rat for GANC

    GANC Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for GANC
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR017853 Glycoside_hydrolase_SF
     IPR000322 Glyco_hydro_31
     IPR011013 Gal_mutarotase_SF_dom
     IPR025887 Glyco_hydro_31_N_dom

    Graphical View of Domain Structure for InterPro Entry Q8TET4

    ProtoNet protein and cluster: Q8TET4

    1 Blocks protein domain: IPB000322 Glycoside hydrolase

    UniProtKB/Swiss-Prot: GANC_HUMAN, Q8TET4
    Similarity: Belongs to the glycosyl hydrolase 31 family


    GANC for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GANC_HUMAN, Q8TET4
    Function: Has alpha-glucosidase activity
    Catalytic activity: Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of
    alpha-D-glucose

         Genatlas biochemistry entry for GANC:
    glucosidase,alpha-,neutral C

         Enzyme Numbers (IUBMB): EC 3.2.12 EC 3.2.1.201

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds ----
    GO:0004558alpha-glucosidase activity NAS12370436
    GO:0030246carbohydrate binding IEA--
    GO:0032450maltose alpha-glucosidase activity IEA--
         
    GANC for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for GANC:
     Decreased BPV1 E2 protein expr  Increased HPV18 LCR reporter a 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GANC
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GANC

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GANC
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GANC

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat GANC using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GANC (see all 16):
    hsa-miR-125a-5p hsa-miR-4251 hsa-miR-373* hsa-miR-511 hsa-miR-125b hsa-miR-3613-3p hsa-miR-1193 hsa-miR-325
    SwitchGear 3'UTR luciferase reporter plasmidGANC 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GANC
    Predesigned siRNA for gene silencing in human, mouse, rat GANC

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GANC

    Clone
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    OriGene clones in human, mouse for GANC (see all 7)
    OriGene ORF clones in mouse, rat for GANC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GANC (NM_198141)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GANC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GANC

    Cell Line
    Products:
         
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    Browse ESI BIO Cell Lines and PureStem Progenitors for GANC 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GANC


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    plasma membrane2
    cytoskeleton1
    lysosome1
    mitochondrion1
    vacuole1

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GANC About    
    See pathways by source

    SuperPathContained pathways About
    1Galactose metabolism
    Galactose metabolism0.44
    2Glucuronidation
    Starch and sucrose metabolism0.41
    3Metabolism
    Metabolic pathways0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3 Kegg Pathways  (Kegg details for GANC):
        Galactose metabolism
    Starch and sucrose metabolism
    Metabolic pathways


    GANC for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including GANC: 
              Unfolded Protein Response in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for GANC

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GANC (ENSP000003262274) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGLENSP000002947244STRING: ENSP00000294724
    GLAENSP000002185164STRING: ENSP00000218516
    SIENSP000002643824STRING: ENSP00000264382
    ERGIC2ENSP000003532704STRING: ENSP00000353270
    PGAP3ENSP000003006584STRING: ENSP00000300658
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process IEA--

    GANC for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for GANC available from Tocris Bioscience    About this table
    CompoundAction CAS #
    KifunensineInhibitor of class I alpha-mannosidases[109944-15-2]
    1-DeoxynojirimycinGlucosidase I and II inhibitor[19130-96-2]
    1-Deoxymannojirimycin hydrochloridealpha-Mannosidase I inhibitor[73465-43-7]
    Miglitolalpha-glucosidase inhibitor[72432-03-2]
    OGT 2115Antiangiogenic. Heparanase inhibitor[853929-59-6]

    7 HMDB Compounds for GANC    About this table
    CompoundSynonyms CAS #PubMed Ids
    Alpha-D-GlucoseHexopyranose (see all 11)492-62-6--
    D-Galactose(+)-Galactose (see all 14)59-23-4--
    D-Glucose(+)-Glucose (see all 23)50-99-7--
    D-Maltosealpha-Malt sugar (see all 40)69-79-4--
    Melibiose6-(D-galactosido)-D-glucose (see all 17)585-99-9--
    Sucrose(+)-Sucrose (see all 11)57-50-1--
    WaterDihydrogen oxide (see all 2)7732-18-5--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GANC gene: 
    NM_198141.2  

    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000561871 ENST00000562170 ENST00000562859 ENST00000566442(uc001zph.3)
    ENST00000440615(uc010ude.1) ENST00000318010(uc001zpi.3) ENST00000567784
    ENST00000570013 ENST00000568687 ENST00000567421 ENST00000568953 ENST00000567596
    ENST00000566690
    miRNA
    Products:
         
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    Selected qRT-PCR Assays for microRNAs that regulate GANC (see all 16):
    hsa-miR-125a-5p hsa-miR-4251 hsa-miR-373* hsa-miR-511 hsa-miR-125b hsa-miR-3613-3p hsa-miR-1193 hsa-miR-325
    SwitchGear 3'UTR luciferase reporter plasmidGANC 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for GANC
    Predesigned siRNA for gene silencing in human, mouse, rat GANC
    Clone
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    OriGene clones in human, mouse for GANC (see all 7)
    OriGene ORF clones in mouse, rat for GANC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GANC (NM_198141)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GANC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GANC
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for GANC
    OriGene qSTAR qPCR primer pairs in human, mouse for GANC
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GANC
      QuantiTect SYBR Green Assays in human, mouse, rat GANC
      QuantiFast Probe-based Assays in human, mouse, rat GANC

    Selected AceView cDNA sequences (see all 72):

    NM_173089 AA278326 NM_212464 BQ425112 BI041188 NM_198141 F24048 CF552300 
    BF059173 BU165965 BU194969 AA278997 BE220887 BQ677982 BF890700 BE388388 
    BU161124 AK074037 BQ427836 NM_212467 NM_000070 BX474600 BG393547 NM_173090 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GANC expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCTGTTTCT
    GANC Expression
    About this image

    GANC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GANC Protein Expression
        Pathway & Disease-focused RT2 Profiler PCR Array including GANC: 
              Unfolded Protein Response in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for GANC
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GANC
    QuantiTect SYBR Green Assays in human, mouse, rat GANC
    QuantiFast Probe-based Assays in human, mouse, rat GANC
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GANC

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GANC gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ganc1 , 5 glucosidase, alpha; neutral C1, 5 85.53(n)1
    84.43(a)1
      2 (60.31 cM)5
    760511  NM_172672.21  NP_766260.21 
     1204038965 
    chicken
    (Gallus gallus)
    Aves GANC1 glucosidase, alpha; neutral C 70.65(n)
    66.48(a)
      423232  NM_001199665.1  NP_001186594.1 
    lizard
    (Anolis carolinensis)
    Reptilia GANC6
    glucosidase, alpha; neutral C
    68(a)
    1 ↔ 1
    1(39965040-39998765)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ganc1 glucosidase, alpha; neutral C 62.84(n)
    60.47(a)
      100135094  NM_001113833.1  NP_001107305.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005363531 neutral alpha-glucosidase C-like 56.5(n)
    53.45(a)
      100536353  XM_003200376.2  XP_003200424.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG144766
    --
    41(a)
    1 → many
    X(21471627-21476294)
    worm
    (Caenorhabditis elegans)
    Secernentea aagr-46
    aagr-36
    Protein AAGR-3, isoform b
    41(a)
    40(a)
    many ↔ many
    many ↔ many
    X(460651-466972) WBGene00018682
    V(9725972-9729510) WBGene00009583
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ROT26
    Glucosidase II catalytic subunit required for norm...
    32(a)
    1 → many
    II(676357-679221) YBR229C
    soybean
    (Glycine max)
    eudicotyledons Gma.66692 Transcribed sequence with moderate similarity to protein more 72.06(n)  
    corn
    (Zea mays)
    Liliopsida Zm.137592 Zea mays PCO146511 mRNA sequence 73.66(n)    AY105818.1 


    ENSEMBL Gene Tree for GANC (if available)
    TreeFam Gene Tree for GANC (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GANC gene
    SI2  GAA2  MGAM2  GANAB2  LOC934322  
    1 SIMAP similar gene for GANC using alignment to 9 protein entries:     GANC_HUMAN (see all proteins):
    GANAB

    GANC for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GANC (see all 1907)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs58122171,2
    C--42567779(+) TTTTTT/-CTCCT 1 -- int12Minor allele frequency- -:0.25NA CSA 4
    rs1116860571,2
    C--42567795(+) TCCTTA/GTAATC 1 -- int10--------
    rs757150331,2
    F--42567798(+) TTATAA/CTCTGT 1 -- int11Minor allele frequency- C:0.06EA 120
    rs1826497381,2
    C--42567828(+) AGGCTA/GGTTTA 1 -- int10--------
    rs1869756741,2
    C--42567878(+) CATGTC/TTTATC 1 -- int10--------
    rs1145064851,2
    --42567979(+) GTCTGC/TTCTGT 1 -- int10--------
    rs1384924831,2
    C--42567980(+) TCTGTG/TCTGTT 1 -- int10--------
    rs1429520151,2
    --42568024(+) TTTGTC/TAGCTT 1 -- int10--------
    rs762979261,2
    C--42568144(+) CGGTGC/GGTGGG 1 -- int10--------
    rs80435151,2,,4
    C,F,H--42568547(+) TTAGTG/CTTGAA 2 /L /V mis122Minor allele frequency- C:0.02NS EA NA WA CSA EU 6347

    HapMap Linkage Disequilibrium report for GANC (42565431 - 42645864 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for GANC:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2671493CNV Deletion23128226
    esv2661604CNV Deletion23128226
    esv2660428CNV Deletion23128226
    nsv832986CNV Loss17160897
    nsv904133CNV Gain21882294
    nsv832987CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GANC
    DNA2.0 Custom Variant and Variant Library Synthesis for GANC

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 104180    OMIM disorders: --

    6 diseases for GANC:    
    About MalaCards
    glycogen storage disease ii    congenital dyserythropoietic anemia type i    congenital dyserythropoietic anemia    glycogen storage disease
    cystic fibrosis    hiv-1

    1 disease from the University of Copenhagen DISEASES database for GANC:
    Glycogen storage disease II

    GANC for disorders           About GeneDecksing

    Genetic Association Database (GAD): GANC
    Human Genome Epidemiology (HuGE) Navigator: GANC (1 document)

    Export disorders for GANC gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GANC gene, integrated from 10 sources (see all 53):
    (articles sorted by number of sources associating them with GANC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Computer assisted cloning of human neutral alpha glucosidase C (GANC): a new paralog in the glycosyl hydrolase gene family 31. (PubMed id 12370436)1, 2, 3, 9 Hirschhorn R.... Kasper J.S. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    2. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    3. 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. (Genome Res. 2004)
    4. Assignment of the gene for human neutral alpha-glucosidase C to chromosome 15. (PubMed id 6995030)1, 3 Martiniuk F....Smith M. (Cytogenet. Cell Genet. 1980)
    5. Newly identified exons encoding novel variants of p94/calpain 3 are expressed ubiquitously and overlap the alpha-glucosidase C gene. (PubMed id 14675785)1, 9 Kawabata Y.... Sorimachi H. (FEBS Lett. 2003)
    6. A whole genome screen for HIV restriction factors. (PubMed id 22082156)1 Liu L....McKnight A. (Retrovirology 2011)
    7. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    8. Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. (PubMed id 19588081)1 Oba-Shinjo S.M.... Marie S.K. (J. Neurol. 2009)
    9. HIV-1 gp120 N-linked glycosylation differs between plasma and leukocyte compartments. (PubMed id 18215327)1 Ho Y.S....Saksena N.K. (Virol. J. 2008)
    10. Env length and N-linked glycosylation following transmission of human immunodeficiency virus Type 1 subtype B viruses. (PubMed id 18314154)1 Liu Y....Mullins J.I. (Virology 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2595 HGNC: 4139 AceView: CAPN3 Ensembl:ENSG00000214013 euGenes: HUgn2595
    ECgene: GANC Kegg: 2595 H-InvDB: GANC

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GANC Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GANC gene:
    Search GeneIP for patents involving GANC

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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