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SLC37A4 Gene

protein-coding   GIFtS: 59
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 ic, and glycogen storage disease type 1b. 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 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 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 Chromatin IP Primers for SLC37A4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: G6PT1_HUMAN, O43826 (See protein sequence)
Recommended Name: Glucose-6-phosphate translocase  
Size: 429 amino acids; 46360 Da
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SLC37A4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    SLC37A4 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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
     IPR011701 MFS
     IPR021159 Sugar-P_transporter_CS
     IPR020846 MFS_dom
     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,
    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: 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:    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/body  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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    miRNA
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    miRTarBase miRNAs that target SLC37A4:
    hsa-mir-222-3p (MIRT046702), hsa-mir-193b-3p (MIRT041504)

    Block miRNA regulation of human, mouse, rat SLC37A4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC37A4 (see all 18):
    hsa-let-7d hsa-miR-202 hsa-let-7c hsa-miR-181a-2* hsa-let-7g hsa-let-7a hsa-miR-3649 hsa-miR-3121-3p
    SwitchGear 3'UTR luciferase reporter plasmidSLC37A4 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC37A4


    (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 UniProtKB/Swiss-Prot
    G6PT1_HUMAN, O43826: Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3
    golgi apparatus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum NAS212064
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral component of membrane NAS9428641
    GO:0030176integral component of endoplasmic reticulum membrane IDA10318794
    GO:0043231intracellular membrane-bounded organelle ----

    SLC37A4 for ontologies           About GeneDecksing


    (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 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
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transmembrane transport of small molecules0.47
    3Glycolysis and gluconeogenesis short map
    Glycolysis and gluconeogenesis short map 0.60
    4MPS VI - Maroteaux-Lamy syndrome
    Metabolism of carbohydrates0.45
    5Metabolism
    Metabolism0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    1 Reactome Pathway for SLC37A4
        Glucose transport


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


    SLC37A4 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC37A4
    Interactions:

        Search GeneGlobe Interaction Network 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): Selected biological process terms (see all 26):    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, 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 

    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)



    SLC37A4 for compounds           About GeneDecksing



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

    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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    hsa-let-7d hsa-miR-202 hsa-let-7c hsa-miR-181a-2* hsa-let-7g hsa-let-7a hsa-miR-3649 hsa-miR-3121-3p
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    Selected AceView cDNA sequences (see all 1351):

    BQ431713 CF552796 AA724897 BE779193 BI091679 BG058756 CD679282 AW160415 
    F24445 BF792926 BM979609 AA314604 AI707978 AI718429 Z40427 AA304313 
    BE396474 AW090143 AA358699 BQ944093 BM990156 BM090982 AI184817 BU180005 

    GeneLoc Exon Structure

    Selected 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™, 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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    SLC37A4 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Kidney (Urinary System)
             Metanephros
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Trophoblast (Extraembryonic Tissues)
             Mural Trophectoderm Cells Mural Trophectoderm
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    SLC37A4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC37A4 Protein Expression

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

        Custom PCR Arrays for SLC37A4
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    In Situ
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SLC37A4 gene from Selected species (see all 13)    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), more1, 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), more 75.45(n)
    81.59(a)
      419789  XM_001233001.2  XP_001233002.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC37A46
    solute carrier family 37 (glucose-6-phosphate tran...
    83(a)
    1 ↔ 1
    GL344273.1(18717-28032)
    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) more 76.57(n)   393914  BC045479.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F47B8.106
    hpo-126
    Protein HPO-12, isoform d
    20(a)
    15(a)
    1 ↔ many
    1 ↔ many
    V(14343068-14345660) WBGene00009811
    IV(12282868-12287832) WBGene00016588


    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)
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    (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 SLC37A4 (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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 17 diseases for SLC37A4:    
    About MalaCards
    glycogen storage disease ic    glycogen storage disease type 1b    juvenile hereditary hemochromatosis    glycogen storage disease i
    hepatocellular adenoma    glycogen storage disease    neutropenia    hyperuricemia
    sudden infant death syndrome    hypoglycemia    adenoma    inflammatory bowel disease
    renal cell carcinoma    multiple myeloma    myeloma    hepatitis
    prostatitis

    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)
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    PubMed articles for SLC37A4 gene, integrated from 10 sources (see all 89):
    (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. (FEBS Lett. 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. (J. Pathol. 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. (Mol. Genet. Metab. 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. (Mol. Genet. Metab. 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. (Hum. Mutat. 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. (FEBS Lett. 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. (J. Biol. Chem. 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. (Am. J. Med. Genet. 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. (Eur. J. Pediatr. 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. (Curr. Mol. Med. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 2542 HGNC: 4061 AceView: RPS25 Ensembl:ENSG00000137700 euGenes: HUgn2542
    ECgene: SLC37A4 Kegg: 2542 H-InvDB: SLC37A4

    (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 SLC37A4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SLC37A4[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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