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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC2A2 Gene

protein-coding   GIFtS: 65
GCID: GC03M170714

solute carrier family 2 (facilitated glucose transporter),...


(Previous symbol: GLUT2)
 Explore 35 diseases affiliated with
SLC2A2 via our new
 Human Malady Compendium 
Biological research products
for SLC2A2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Solute Carrier Family 2 (Facilitated Glucose Transporter), Member 21 2
GLUT21 2 3 5
Glucose Transporter Type 2, Liver2 3
GLUT-22 3
Solute Carrier Family 2, Facilitated Glucose Transporter Member 22

External Ids:    HGNC: 110061   Entrez Gene: 65142   Ensembl: ENSG000001635817   OMIM: 1381605   UniProtKB: P111683   

Export aliases for SLC2A2 gene to outside databases

Previous GC identifers: GC03M167856 GC03M171763 GC03M172116 GC03M172035 GC03M172196 GC03M168084


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

Entrez Gene summary for SLC2A2:
Glucose transporter 2 isoform is an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine,
and kidney epithelium. It mediates facilitated bidirectional glucose transport. Because of its low affinity for
glucose, it has been suggested as a glucose sensor. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: GTR2_HUMAN, P11168
Function: Facilitative glucose transporter. This isoform likely mediates the bidirectional transfer of glucose across
the plasma membrane of hepatocytes and is responsible for uptake of glucose by the beta cells; may comprise part of
the glucose-sensing mechanism of the beta cell. May also participate with the Na(+)/glucose cotransporter in the
transcellular transport of glucose in the small intestine and kidney




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC2A2 gene promoter:
         LHX3b/Lhx3b   AP-1   ATF-2   HNF-4alpha2   CUTL1   Cdc5   HNF-4alpha1   Max   LHX3a/Lhx3a   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC2A2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC2A2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC2A2


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

Entrez Gene cytogenetic band: 3q26.1-q26.2   Ensembl cytogenetic band:  3q26.2   HGNC cytogenetic band: 3q26.2-q27

SLC2A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC2A2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M170714:  view genomic region     (about GC identifiers)

Start:
170,714,137 bp from pter      End:
170,744,768 bp from pter
Size:
30,632 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: GTR2_HUMAN, P11168 (See protein sequence)
Recommended Name: Solute carrier family 2, facilitated glucose transporter member 2  
Size: 524 amino acids; 57490 Da
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: A8K481 B2R936 Q9UCW9

Explore the universe of human proteins at neXtProt for SLC2A2: NX_P11168

Post-translational modifications:

  • N-glycosylated; required for stability and retention at the cell surface of pancreatic beta cells (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P11168

  • SLC2A2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000331.1  
    ENSEMBL proteins: 
     ENSP00000323568   ENSP00000418456   ENSP00000417918   ENSP00000418888   ENSP00000372258  
    Reactome Protein details: P11168
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    Uscn Proteins for SLC2A2

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005737cytoplasm IEA--
    GO:0005768endosome ----
    GO:0005829cytosol ----
    GO:0005886plasma membrane TAS--


    SLC2A2 for ontologies           About GeneDecksing



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

    SLC2A2 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR005829 Sugar_transporter_CS
     IPR005828 Sub_transporter
     IPR003663 Sugar/inositol_transpt
     IPR002440 Glc_transpt_2
     IPR020846 MFS_dom

    Graphical View of Domain Structure for InterPro Entry P11168

    ProtoNet protein and cluster: P11168

    4 Blocks protein families:
    IPB000803 Mammalian facilitated glucose transporter family signature
    IPB002440 Glucose transporter type 2 (GLUT2) signature
    IPB003663 Sugar transporter signature
    IPB005829 Sugar transporter superfamily


    UniProtKB/Swiss-Prot: GTR2_HUMAN, P11168
    Similarity: Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter
    subfamily


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: GTR2_HUMAN, P11168
    Function: Facilitative glucose transporter. This isoform likely mediates the bidirectional transfer of glucose across
    the plasma membrane of hepatocytes and is responsible for uptake of glucose by the beta cells; may comprise part of
    the glucose-sensing mechanism of the beta cell. May also participate with the Na(+)/glucose cotransporter in the
    transcellular transport of glucose in the small intestine and kidney

         Genatlas biochemistry entry for SLC2A2:
    solute carrier family 2,member A2,facilitated glucose transporter

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    hsa-miR-3671 hsa-miR-299-5p hsa-miR-3163 hsa-miR-374b hsa-miR-374a hsa-miR-1305 hsa-miR-587 hsa-miR-3613-3p
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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005158insulin receptor binding ----
    GO:0005355glucose transmembrane transporter activity EXP--
    GO:0015149hexose transmembrane transporter activity TAS--
    GO:0022891substrate-specific transmembrane transporter activity ----
    GO:0033300dehydroascorbic acid transporter activity IEA--


    SLC2A2 for ontologies           About GeneDecksing


    5 GenomeRNAi human phenotypes for SLC2A2:
     Decreased influenza A virus in  Decreased number of cells in m  Decreased viability  Increased G1 DNA content 
     Synthetic lethal with Ras 

    Animal Models:
         Mouse knock-out Slc2a2tm1Thor for SLC2A2
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc2a2):
     behavior/neurological  endocrine/exocrine gland  growth/size  homeostasis/metabolism  mortality/aging 

    SLC2A2 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/19 super-pathways (see all 19About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport1.00
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.50
    2Regulation of beta-cell development
    Regulation of beta-cell development1.00
    Regulation of gene expression in beta cells0.56
    Maturity onset diabetes of the young0.56
    3Type II diabetes mellitus
    Type II diabetes mellitus1.00
    Type II diabetes mellitus0.35
    Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics0.38
    4Regulation of Insulin Secretion
    Regulation of Insulin Secretion1.00
    Integration of energy metabolism0.74
    5Translocation of Influenza A virus nonstructural protein 1 (NS1A) into the nucleus
    Glucose transport0.57
    Hexose transport0.55

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 EMD Millipore Pathways for SLC2A2
        Selected targets of C/EBPbeta
    Selected targets of HNF1
    Selected targets of C/EBPalpha

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SLC2A2
        Antioxidant Action of Vitamin-C
    HIF1Alpha Pathway
    MODY (Maturity-Onset Diabetes of Young)

    3 BioSystems Pathways for SLC2A2 
        Type II diabetes mellitus
    Glycolysis and Gluconeogenesis
    FOXA2 and FOXA3 transcription factor networks

    5/14        Reactome Pathways for SLC2A2 (see all 14)
        Developmental Biology
    Metabolism of carbohydrates
    Hexose transport
    Metabolism
    Regulation of beta-cell development

    1 PharmGKB Pathway for SLC2A2
        Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics

    3         Kegg Pathways  (Kegg details for SLC2A2):
        Type II diabetes mellitus
    Maturity onset diabetes of the young
    Carbohydrate digestion and absorption


    SLC2A2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC2A2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/10 Interacting proteins for SLC2A2 (P111683 ENSP000003235684) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDX1P529453, ENSP000003704214I2D: score=1 STRING: ENSP00000370421
    PRKACAP176123, ENSP000003095914I2D: score=1 STRING: ENSP00000309591
    KPNA2P522923, ENSP000003324554I2D: score=2 STRING: ENSP00000332455
    FOXA2ENSP000003159554STRING: ENSP00000315955
    HNF1AENSP000002575554STRING: ENSP00000257555
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006112energy reserve metabolic process TAS--
    GO:0008645hexose transport TAS--
    GO:0009749response to glucose stimulus ----
    GO:0015755fructose transport ----


    SLC2A2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC2A2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC2A2

    1 DrugBank Compound for SLC2A2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Streptozocin-- 18883-66-4targetligand9421374 7926307

    10/34 Novoseek chemical compound relationships for SLC2A2 gene (see all 34)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucose 79.1 350 7491941 (6), 9867217 (5), 15919789 (5), 16669350 (4) (see all 99)
    preproinsulin 70.4 6 11319727 (2), 15935394 (2), 9513084 (1)
    3-o-methylglucose 67.9 5 9446781 (1), 8626492 (1), 9751501 (1), 7593639 (1)
    2-deoxyglucose 66.6 17 9477959 (3), 1420159 (1), 9166863 (1), 8027028 (1) (see all 7)
    cytochalasin b 65.4 7 1716731 (2), 8865815 (2), 9166863 (1), 1716988 (1)
    fructose 61.6 21 9477959 (3), 9166863 (2), 9751501 (2), 9073126 (1) (see all 10)
    glycogen 51.5 7 11915024 (4), 11810292 (1), 7805957 (1), 10987651 (1)
    c-peptide 51.1 4 16109755 (2), 17226789 (1)
    proglucagon 45.2 1 12193567 (1)
    galactose 44.8 2 11810292 (1), 16669350 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC2A2 / GTR2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
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    About This Section

    REFSEQ mRNAs for SLC2A2 gene: 
    NM_000340.1  

    Unigene Cluster for SLC2A2:

    Solute carrier family 2 (facilitated glucose transporter), member 2
    Hs.167584  [show with all ESTs]
    Unigene Representative Sequence: NM_000340
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000314251(uc003fhe.1 uc003fhf.1 uc011bpu.1) ENST00000497642
    ENST00000469787 ENST00000471379 ENST00000461867 ENST00000382808

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    Additional cDNA sequence: 

    AK290846.1 AK292741.1 AK298418.1 AK313622.1 BC060041.1 J03810.1 

    5 DOTS entries:

    DT.213866  DT.95261969  DT.91699272  DT.40242631  DT.95243927 

    24/112 AceView cDNA sequences (see all 112):

    AI522244 BF224453 BX956217 BX483684 NM_000340 BC060041 CB162632 AV684100 
    T95962 AV653514 J03810 AV647943 C21156 W03283 H60496 AW614449 
    AV649247 CB161486 CB164808 BG563160 BX100873 CB164514 CB162316 AW300621 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for SLC2A2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
    SP1:                                                                              
    SP2:                          -                                                   


    ECgene alternative splicing isoforms for SLC2A2

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC2A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGTCAGACAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    SLC2A2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyProximal TubuleProximal Tubule CellsKidney
    PancreasIslets of LangerhansMature Beta CellsPancreas
    PancreasVentral Pancreatic BudPancreatic Progenitor CellsPancreas
    KidneyS-shaped BodyKidney
    LiverLiver LobuleLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 5 LifeMap Cells 
    NameCategory
    beta-like cells (Derivation of beta c...)
    Pancreatic-like islets (Derivation of beta c...)
    beta-like cells (Derivation of beta c...)
    beta-like cells (Serum-free protocol ...)
    Islet-like clusters (Serum-free protocol ...)

    See SLC2A2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC2A2

    SOURCE GeneReport for Unigene cluster: Hs.167584

    UniProtKB/Swiss-Prot: GTR2_HUMAN, P11168
    Tissue specificity: Liver, insulin-producing beta cell, small intestine and kidney

        SABiosciences Expression via Pathway-Focused PCR Arrays including SLC2A2: 
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              Drug Transporters in human mouse rat
              Fatty Liver in human mouse rat

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    In Situ
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    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SLC2A2 gene from 8/27 species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SLC2A21 solute carrier family 2 (facilitated glucose transporter), more 66.93(n)
    66.73(a)
      396272  NM_207178.1  NP_997061.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC2A26
    --
    59(a)
    1 ↔ 1
    3(7331737-7348613)
    African clawed frog
    (Xenopus laevis)
    Amphibia BX847139.12   -- 75.07(n)    BX847139.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc2a21 solute carrier family 2 (facilitated glucose transporter), more 61.92(n)
    61.59(a)
      322493  NM_001042721.1  NP_001036186.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Glut13 glucose transporter 41(a)
    (best of 5)
      61E1   --
    worm
    (Caenorhabditis elegans)
    Secernentea H17B01.1a3 sugar transporter 39(a)
    (best of 3)
      II(1504573-1509692)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G673006
    PGLCT6
    (see all 4)
    Plastidic glucose transporter 4
    (see all 4)
    24(a)
    24(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    1(25193704-25197089)
    5(5272557-5275815)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 3)
    transporter family protein, putative, expressed
    (see all 3)
    25(a)
    23(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    2(10074579-10081510)
    1(1842814-1848186)


    ENSEMBL Gene Tree for SLC2A2 (if available)
    TreeFam Gene Tree for SLC2A2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC2A2 gene
    ENSG000002513572  SLC2A52  SLC2A72  SLC2A32  SLC2A92  SLC2A142  SLC2A12  SLC2A42  
    SLC2A112  
    12 SIMAP similar genes for SLC2A2 using alignment to 6 protein entries:     GTR2_HUMAN (see all proteins):
    SLC2A3    SLC2A14    SLC2A4    SLC2A1    SLC2A5    SLC2A7
    SLC2A9    SLC2A11    SLC2A11-a    SLC2A11-c    SLC2A10    SLC2A8

    SLC2A2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/573 NCBI SNPs in SLC2A2 are shown (see all 573    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289288741,2
    Cpathogenic214772087(-) CATGGT/AGGCTG 2 /E /V mis12Minor allele frequency- A:0.00NA 4
    rs31984651,2
    C,F,--168083599(-) TCTGCC/TTCAGA 1 -- ds50012Minor allele frequency- T:0.02MN WA 302
    rs743329581,2
    C,F,--168083819(+) GCCATC/TAGCAT 1 -- ds50011Minor allele frequency- T:0.09WA 118
    rs1129576741,2
    --168084228(+) GATACG/ATTAGC 1 -- ut311Minor allele frequency- A:0.50CSA 2
    rs556797421,2
    C,F,--168084320(+) TCTGTG/ATATTT 1 -- ut317Minor allele frequency- A:0.18WA NA CSA EA 366
    rs559898051,2
    C,F,--168084355(+) CAGATA/TGATAG 1 -- ut317Minor allele frequency- T:0.21WA NA CSA EA 366
    rs285798991,2
    C,F,H,--168084370(+) CAATGC/TGTGTT 1 -- ut31 ese34Minor allele frequency- T:0.01NS NA 356
    rs556695411,2
    C,--168084445(+) AAGGAG/TACGAT 1 -- ut310--------
    rs562045211,2
    C,F,--168084657(+) AAATTT/GTCTTA 1 -- ut311Minor allele frequency- G:0.03NA 120
    rs777336901,2
    C,F,--168084668(+) CATTAG/AATTTG 1 -- ut311Minor allele frequency- A:0.09WA 118

    HapMap Linkage Disequilibrium report for SLC2A2 (170714137 - 170744768 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SLC2A2: --
    Human Gene Mutation Database (HGMD): SLC2A2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC2A2
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC2A2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SLC2A2 for disorders           About GeneDecksing

    OMIM gene information: 138160   
    OMIM disorders: 227810  
    UniProtKB/Swiss-Prot: GTR2_HUMAN, P11168
  • Defects in SLC2A2 are the cause of Fanconi-Bickel syndrome (FBS) [MIM:227810]. FBS is a rare, well-defined
  • clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation,
    proximal renal tubular dysfunction, and impaired utilization of glucose and galactose

    20/35 diseases for SLC2A2 (see all 35):    About MalaCards
    diabetes mellitus, noninsulin-dependent    fanconi-bickel syndrome    glycogen storage disease    maturity-onset diabetes of the young
    diabetes mellitus    neonatal diabetes mellitus    renal glucosuria    type 2 diabetes mellitus
    galactosemia    islet cell tumor    metabolic disorders    morbid obesity
    tuberous sclerosis    hypoglycemia    pituitary adenoma    insulinoma
    insulin resistance    hyperinsulinism    hyperglycemia    autoimmune thyroiditis

    4 diseases from the University of Copenhagen DISEASES database for SLC2A2:
    Diabetes mellitus     Hyperglycemia     Insulinoma     Hypoglycemia

    10/23 Novoseek disease relationships for SLC2A2 gene (see all 23)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fanconi-bickel syndrome 96.9 26 11810292 (2), 19480329 (2), 11079206 (1), 15449578 (1) (see all 19)
    renal tubular disorder 70.5 1 11810292 (1)
    insulinoma 61.4 11 12525258 (2), 9166666 (1), 12712243 (1), 8276890 (1) (see all 9)
    glycogen storage disease 58.5 5 10987651 (2), 19223655 (1), 11485019 (1)
    niddm 58.2 52 7983799 (5), 1351429 (4), 9137902 (4), 12017192 (4) (see all 17)
    hyperglycemia 52.1 2 2237405 (1), 16223491 (1)
    neonatal diabetes mellitus 49.6 1 12029458 (1)
    galactosemias 49.2 1 11810292 (1)
    malabsorption 38.9 2 15449578 (1), 19965550 (1)
    hypoglycemia 36.8 1 11810292 (1)

    Genatlas disease: SLC2A2
    glycogen storage disease,hepatorenal with tubular nephropathy and impaired utilization of glucose and
    galactose,Fanconi-Bickel syndrome

    Genetic Association Database (GAD): SLC2A2
    Human Genome Epidemiology (HuGE) Navigator: SLC2A2 (24 documents)

    Export disorders for SLC2A2 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)
    About This Section

    PubMed articles for SLC2A2 gene, integrated from 9 sources (see all 281):
    (articles sorted by number of sources associating them with SLC2A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Polymorphisms in the SLC2A2 (GLUT2) gene are associated with the conversion from impaired glucose tolerance to type 2 diabetes: the Finnish Diabetes Prevention Study. (PubMed id 15983230)1, 4, 9 Laukkanen O....Laakso M. (2005)
    2. Analysis of polymorphism of the GLUT2 promoter in NIDDM patients and its functional consequence to the promoter activity. (PubMed id 12017192)1, 4, 9 Cha J.Y....Ahn Y.H. (2002)
    3. A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato- renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity. (PubMed id 10987651)1, 2, 9 Burwinkel B.... Kilimann M.W. (1999)
    4. Sequence variations of the pancreatic islet/liver glucose transporter (GLUT2) gene in Japanese subjects with noninsulin dependent diabetes mellitus. (PubMed id 7593414)2, 4, 9 Matsubara A.... Kaku K. (1995)
    5. Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome. (PubMed id 11044475)1, 2, 9 Sakamoto O.... Iinuma K. (2000)
    6. Studies of genetic variability of the glucose transporter 2 promoter in patients with type 2 diabetes mellitus. (PubMed id 11344224)1, 4, 9 Moller A.M....Pedersen O. (2001)
    7. Candidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action. (PubMed id 14551916)1, 4, 9 Barroso I....Wareham N.J. (2003)
    8. A mutation in the Glut2 glucose transporter gene of a diabetic patient abolishes transport activity. (PubMed id 8027028)1, 2, 9 Mueckler M.... Permutt M.A. (1994)
    9. Variability of the pancreatic islet beta cell/liver (GLUT 2) glucose transporter gene in NIDDM patients. (PubMed id 8063045)1, 2 Tanizawa Y.... Permutt M.A. (1994)
    10. CA repeat polymorphism in the glucose transporter GLUT 2 gene. (PubMed id 1852621)1, 3 Froguel P....Cohen D. (1991)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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)
    About This Section
    Entrez Gene: 6514 HGNC: 11006 AceView: SLC2A2 Ensembl:ENSG00000163581 euGenes: HUgn6514
    ECgene: SLC2A2 Kegg: 6514 H-InvDB: SLC2A2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC2A2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC2A2
    Wikipedia http://en.wikipedia.org/wiki/GLUT2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC2A2 gene:
    Search GeneIP for patents involving SLC2A2

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



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