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

SLC37A4 Gene

protein-coding   GIFtS: 61
GCID: GC11M118894

Solute Carrier Family 37 (Glucose-6-Phosphate Transporter),...

(Previous names: glucose-6-phosphatase, transport (glucose-6-phosphate) protein...)
(Previous symbols: G6PT1, G6PT2, G6PT3)
  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)
About This Section

Aliases
Solute Carrier Family 37 (Glucose-6-Phosphate Transporter), Member
41 2
     GSD1b2
G6PT11 2 3 5     GSD1c2
G6PT21 2     GSD1d2
G6PT31 2     TRG192
Glucose-6-Phosphatase, Transport (Glucose-6-Phosphate) Protein 11 2     Glucose-6-Phosphatase, Transport (Glucose) Protein 32
Glucose-5-Phosphate Transporter2 3     Glucose-6-Phosphatase, Transport (Phosphate/Pyrophosphate) Protein 22
Solute Carrier Family 37 Member 42 3     Glucose-6-Phosphate Translocase2
Transformation-Related Gene 19 Protein2 3     Microsomal Glucose-6-Phosphate Transporter2
TRG-192 3     G6PT3

External Ids:    HGNC: 40611   Entrez Gene: 25422   Ensembl: ENSG000001377007   OMIM: 6026715   UniProtKB: O438263   

Export aliases for SLC37A4 gene to outside databases

Previous GC identifers: GC11M118928 GC11M118432 GC11M118400 GC11M114834


(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 SLC37A4 Gene:
This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in
order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of
the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage
disease. Alternative splicing in this gene results in multiple transcript variants.(provided by RefSeq, Aug 2009)

GeneCards Summary for SLC37A4 Gene: 
SLC37A4 (solute carrier family 37 (glucose-6-phosphate transporter), member 4) is a protein-coding gene. Diseases associated with SLC37A4 include glycogen storage disease type 1b, and glycogen storage disease ic, and among its related super-pathways are Glucose transport and Transmembrane transport of small molecules. GO annotations related to this gene include transporter activity and glucose-6-phosphate transmembrane transporter activity.

UniProtKB/Swiss-Prot: G6PT1_HUMAN, O43826
Function: Transports glucose-6-phosphate from the cytoplasm to the lumen of the endoplasmic reticulum. Forms with
glucose-6-phosphatase the complex responsible for glucose production through glycogenolysis and gluconeogenesis.
Hence, it plays a central role in homeostatic regulation of blood glucose levels

Gene Wiki entry for SLC37A4 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_033899.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC37A4 gene promoter:
         GR   NF-1/L   NF-1   AREB6   MZF-1   S8   Nkx6-1   Ik-2   FOXJ2   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC37A4 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC37A4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC37A4


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

Entrez Gene cytogenetic band: 11q23.3   Ensembl cytogenetic band:  11q23.3   HGNC cytogenetic band: 11q23.3

SLC37A4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC37A4 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M118894:  view genomic region     (about GC identifiers)

Start:
118,894,824 bp from pter      End:
118,901,616 bp from pter
Size:
6,793 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: G6PT1_HUMAN, O43826 (See protein sequence)
Recommended Name: Glucose-6-phosphate translocase  
Size: 429 amino acids; 46360 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=AAF16691.1; Type=Frameshift; Positions=128;
Secondary accessions: O96016 Q5J7V4 Q9UI19 Q9UNS4
Alternative splicing: 2 isoforms:  O43826-1   O43826-2   

Explore the universe of human proteins at neXtProt for SLC37A4: NX_O43826

Explore proteomics data for SLC37A4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O43826

  • SLC37A4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC37A4 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001157749.1  NP_001157750.1  NP_001157751.1  NP_001157752.1  NP_001458.1  

    ENSEMBL proteins: 
     ENSP00000475241   ENSP00000476176   ENSP00000476242   ENSP00000475991  
    Reactome Protein details: O43826
    Human Recombinant Protein Products for SLC37A4: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum NAS212064
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral to membrane NAS9428641
    GO:0030176integral to endoplasmic reticulum membrane IDA10318794

    SLC37A4 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Glucose-6-phosphate transporter 
    SLC37 family of phosphosugar/phosphate exchangers

    5 InterPro protein domains:
     IPR000849 Sugar_P_transporter
     IPR021159 Sugar-P_transporter_CS
     IPR020846 MFS_dom
     IPR011701 MFS
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry O43826

    ProtoNet protein and cluster: O43826

    1 Blocks protein domain: IPB000849 GlpT transporter

    UniProtKB/Swiss-Prot: G6PT1_HUMAN, O43826
    Similarity: Belongs to the major facilitator superfamily. Organophosphate:Pi antiporter (OPA) (TC 2.A.1.4) family


    SLC37A4 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: G6PT1_HUMAN, O43826
    Function: Transports glucose-6-phosphate from the cytoplasm to the lumen of the endoplasmic reticulum. Forms with
    glucose-6-phosphatase the complex responsible for glucose production through glycogenolysis and gluconeogenesis.
    Hence, it plays a central role in homeostatic regulation of blood glucose levels

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity NAS9428641
    GO:0015152glucose-6-phosphate transmembrane transporter activity IMP12560945
         
    SLC37A4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC37A4:
     Decreased number of cells in m 

         11 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc37a4):
     behavior/neurological  cellular  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  liver/biliary system  mortality/aging  nervous system  renal/urinary system 
     skeleton 

    SLC37A4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Slc37a4tm1Jyc for SLC37A4

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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC37A4 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Regulation of Glucokinase by Glucokinase Regulatory Protein
    Glucose transport0.87
    Hexose transport0.87
    2SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transmembrane transport of small molecules0.50
    3Glycolysis and gluconeogenesis (short map)
    Glycolysis and gluconeogenesis (short map)0.60
    4MPS IIIC - Sanfilippo syndrome C
    Metabolism of carbohydrates0.48
    5Metabolism
    Metabolism0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SLC37A4
        Glycolysis and gluconeogenesis (short map)


    1 GeneGo (Thomson Reuters) Pathway for SLC37A4
        Glycolysis and gluconeogenesis (short map)

    5/6        Reactome Pathways for SLC37A4 (see all 6)
        Metabolism of carbohydrates
    SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Hexose transport
    Metabolism


    1         Kegg Pathway  (Kegg details for SLC37A4):
        Carbohydrate digestion and absorption


    SLC37A4 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC37A4

    1 Interacting protein for SLC37A4 (O438263) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CLN3Q132863I2D: score=1 
    About this table

    Gene Ontology (GO): 5/23 biological process terms (GO ID links to tree view) (see all 23):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001780neutrophil homeostasis ----
    GO:0001816cytokine production ----
    GO:0002318myeloid progenitor cell differentiation ----
    GO:0005975carbohydrate metabolic process TAS--
    GO:0005977glycogen metabolic process ----

    SLC37A4 for ontologies           About GeneDecksing



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

    SLC37A4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SLC37A4 (G6PT1)

    1 HMDB Compound for SLC37A4    About this table
    CompoundSynonyms CAS #PubMed Ids
    Glucose 6-phosphateD(+)-Glucopyranose 6-phosphate (see all 11)56-73-5--

    5 Novoseek inferred chemical compound relationships for SLC37A4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucose 6-phosphate 90.2 90 14597389 (4), 15757503 (4), 12444104 (2), 10518030 (2) (see all 50)
    glycogen 82.9 46 12444104 (2), 15059622 (2), 11560776 (2), 19008136 (2) (see all 32)
    glucose 43.2 26 11439108 (2), 17478431 (2), 10966570 (1), 14597389 (1) (see all 14)
    uric acid 14.8 1 17478431 (1)
    lactate 0 1 17478431 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC37A4 / G6PT1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC37A4 gene (5 alternative transcripts): 
    NM_001164277.1  NM_001164278.1  NM_001164279.1  NM_001164280.1  NM_001467.5  

    Unigene Cluster for SLC37A4:

    Solute carrier family 37 (glucose-6-phosphate transporter), member 4
    Hs.719203  [show with all ESTs]
    Unigene Representative Sequence: NM_001164277
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000525102(uc010rys.1 uc001pus.2) ENST00000526275 ENST00000532085(uc009zan.2)
    ENST00000527992 ENST00000530407 ENST00000525372 ENST00000524428 ENST00000525039
    ENST00000529510 ENST00000532888 ENST00000526626 ENST00000525787 ENST00000534384
    ENST00000545985 ENST00000357590(uc010ryr.1) ENST00000330775 ENST00000538950(uc010ryt.1)

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    Additional mRNA sequence: 

    AF110819.1 AF110820.1 AF110822.1 AK289642.1 AK294993.1 AK298395.1 AK300646.1 AK312628.1 
    AY423732.1 BC002400.2 BC003589.1 BC014663.1 BC015650.2 BC064563.1 CR456733.1 Y15409.1 

    21 DOTS entries:

    DT.100813372  DT.87015757  DT.75186682  DT.100813365  DT.100813384  DT.100813375  DT.100813382  DT.99957831 
    DT.120718637  DT.100656842  DT.100716949  DT.100813381  DT.100813367  DT.91753134  DT.100712750  DT.100813362 
    DT.100813380  DT.100813383  DT.120718633  DT.95348392  DT.95321256 

    24/1351 AceView cDNA sequences (see all 1351):

    BU557400 BG283048 BF222265 BM994287 BM990466 BQ063237 BE741070 BQ942324 
    AJ572812 AI703501 CD106501 F28238 CD678276 BQ680537 AW295646 T89738 
    BU500210 BE386096 BM755591 BM351889 BM826501 AW083396 BM785209 AA319975 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for SLC37A4 (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b
    SP1:                                -     -                                         -           -                     
    SP2:                                -     -                                         -                                 
    SP3:                                -     -                                                     -                     
    SP4:                                -     -                                   -     -           -                     
    SP5:                                                                                -           -                     


    ECgene alternative splicing isoforms for SLC37A4

    (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

    SLC37A4 expression in normal human tissues (normalized intensities)      SLC37A4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCAATGTGG
    SLC37A4 Expression
    About this image


    SLC37A4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Kidney (Urinary System)
             Metanephros
     
     Trophoblast (Extraembryonic Tissues)
             Mural Trophectoderm Cells Mural Trophectoderm
     
     Limb (Muscoskeletal System)
             Hindlimb Ventral Muscle
     
     Lower Urinary Tract (Urinary System)
             visceral organ   
     
     Liver (Hepatobiliary System)

    See SLC37A4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC37A4

    SOURCE GeneReport for Unigene cluster: Hs.719203

    UniProtKB/Swiss-Prot: G6PT1_HUMAN, O43826
    Tissue specificity: Mostly expressed in liver and kidney

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC37A4

    (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 animals.

    Orthologs for SLC37A4 gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc37a41 , 5 solute carrier family 37 (glucose-6-phosphate transporter), member 4 less1, 5 87.33(n)1
    93.01(a)1
      9 (24.84 cM)5
    143851  NM_008063.21  NP_032089.21 
     443981765 
    chicken
    (Gallus gallus)
    Aves SLC37A41 solute carrier family 37 (glucose-6-phosphate transporter), member 4 less 75.45(n)
    81.59(a)
      419789  XM_001233001.1  XP_001233002.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC686952 hypothetical protein MGC68695 77.82(n)    BC060486.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc558712 similar to glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1 less 76.57(n)   393914  BC045479.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C42C1.161 hypothetical protein 40.51(n)
    28.1(a)
      259879  NM_069937.1  NP_502338.1 


    ENSEMBL Gene Tree for SLC37A4 (if available)
    TreeFam Gene Tree for SLC37A4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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) 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

    10/312 SNPs in SLC37A4 are shown (see all 312)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs803564921,2,4
    CGlycogen storage disease 1B (GSD1B)4 pathogenic1118760530(-) CCCACA/GCCATT 10 T A mis10--------
    rs1219089801,2,4
    CGlycogen storage disease 1B (GSD1B)4 pathogenic1118760613(-) ATTTGA/GTTTCT 10 D G mis10--------
    rs803564901,2,4
    CGlycogen storage disease 1B (GSD1B)4 pathogenic1118760614(-) TATTTG/TGTTTC 10 G C mis10--------
    rs803564891,2,4
    CGlycogen storage disease 1B (GSD1B)4 pathogenic1118763537(-) TGGGCC/TGGCCC 10 R W mis10--------
    rs1219089781,2,4
    CGlycogen storage disease 1B (GSD1B)4 pathogenic1118764601(-) CAATCA/GCAAGA 9 H R mis1 int10--------
    rs750368961,2
    C--118759167(+) GCTGAT/CTTCCT 5 -- ds50012Minor allele frequency- C:0.09CSA WA 120
    rs1426812471,2
    --118759236(+) ACATAC/TTTCAA 5 -- ds50010--------
    rs773146161,2
    F--118759421(+) TGTTAC/AACTTC 5 -- ds50011Minor allele frequency- A:0.02WA 118
    rs1859522211,2
    --118759463(+) AACCCA/GATAGC 5 -- ds50010--------
    rs1123509791,2
    C,F--118759618(+) TGACAA/GTATTT 5 -- ds50012Minor allele frequency- G:0.05CSA WA 120

    HapMap Linkage Disequilibrium report for SLC37A4 (118894824 - 118901616 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SLC37A4: --

    Human Gene Mutation Database (HGMD): SLC37A4
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC37A4
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC37A4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602671   
    OMIM disorders: 232220  232240  
    UniProtKB/Swiss-Prot: G6PT1_HUMAN, O43826
  • Glycogen storage disease 1B (GSD1B) [MIM:232220]: A metabolic disorder characterized by impairment of
    terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and
    biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen,
    kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. Glycogen storage
    disease type 1B patients also present a tendency towards infections associated with neutropenia, relapsing
    aphthous gingivostomatitis, and inflammatory bowel disease. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • Glycogen storage disease 1C (GSD1C) [MIM:232240]: A metabolic disorder characterized by impairment of
    terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and
    biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen,
    kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Glycogen storage disease 1D (GSD1D) [MIM:232240]: A metabolic disorder characterized by impairment of
    terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and
    biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen,
    kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 15 diseases for SLC37A4:    About MalaCards
    glycogen storage disease type 1b    glycogen storage disease ic    glycogen storage disease    glycogen storage disease i
    hepatocellular adenoma    neutropenia    metabolic disorders    hypoglycemia
    sudden infant death syndrome    hyperuricemia    renal cell carcinoma    glioblastoma
    inflammatory bowel disease    adenoma    hepatitis

    3 diseases from the University of Copenhagen DISEASES database for SLC37A4:
    Glycogen storage disease     Neutropenia     Hypoglycemia

    SLC37A4 for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for SLC37A4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen storage disease 95.7 43 12444104 (2), 15059622 (2), 11560776 (2), 19008136 (2) (see all 31)
    glycogen storage disease type i 89 2 11899241 (1), 19541498 (1)
    neutropenia 68.3 6 16435186 (2), 9822626 (1), 17478431 (1), 11032333 (1)
    hepatomegaly 62.3 1 11032333 (1)
    hypoglycemia 50.8 3 17354259 (1), 17478431 (1)
    hyperlipidemia 42.9 1 17478431 (1)
    metabolic disorder 35.9 3 11560776 (1), 15888252 (1), 11899241 (1)
    bacterial infections 21.3 1 9822626 (1)

    GeneTests: SLC37A4
    GeneReviews: SLC37A4
    Genetic Association Database (GAD): SLC37A4
    Human Genome Epidemiology (HuGE) Navigator: SLC37A4 (2 documents)

    Export disorders for SLC37A4 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 SLC37A4 gene, integrated from 9 sources (see all 87):
    (articles sorted by number of sources associating them with SLC37A4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. (PubMed id 9428641)1, 2, 3 Gerin I....van Schaftingen E. (1997)
    2. Genetic variation in hepatic glucose-6-phosphatase system genes in cases of sudden infant death syndrome. (PubMed id 17354259)1, 4, 9 Forsyth L....Burchell A. (2007)
    3. Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R. (PubMed id 15059622)1, 2, 9 Kojima K....Matsubara Y. (2004)
    4. Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b. (PubMed id 12409273)1, 2, 9 Yuen Y.-P....Lam C.-W. (2002)
    5. Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients. (PubMed id 10923042)1, 2, 9 Santer R....Schneppenheim R. (2000)
    6. Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c. (PubMed id 10518030)1, 2, 9 Galli L.... Sorrentino V. (1999)
    7. Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. (PubMed id 10026167)1, 2, 9 Hiraiwa H.... Chou J.Y. (1999)
    8. Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene. (PubMed id 10482875)1, 2, 9 Hou D.-C.... Narisawa K. (1999)
    9. Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. (PubMed id 15906092)1, 4, 9 Melis D....Benedetti A. (2005)
    10. Type I glycogen storage diseases: disorders of the glucose-6- phosphatase complex. (PubMed id 11949931)1, 2, 9 Chou J.Y.... Chen Y.-T. (2002)

    (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: 2542 HGNC: 4061 AceView: RPS25 Ensembl:ENSG00000137700 euGenes: HUgn2542
    ECgene: SLC37A4 Kegg: 2542 H-InvDB: SLC37A4

    (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 SLC37A4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC37A4

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC37A4 gene:
    Search GeneIP for patents involving SLC37A4

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



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