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G6PD Gene

protein-coding   GIFtS: 73
GCID: GC0XM153759

Glucose-6-Phosphate Dehydrogenase

  See G6PD-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
Glucose-6-Phosphate Dehydrogenase1 2
EC 1.1.1.493 8
G6PD12 5
Glucose-6-Phosphate 1-Dehydrogenase2

External Ids:    HGNC: 40571   Entrez Gene: 25392   Ensembl: ENSG000001602117   OMIM: 3059005   UniProtKB: P114133   

Export aliases for G6PD gene to outside databases

Previous GC identifers: GC0XM147822 GC0XM150140 GC0XM151344 GC0XM152227 GC0XM153323 GC0XM153412 GC0XM142336


(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 G6PD Gene:
This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping
X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing
agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of
G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity
and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic
non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this
gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for G6PD Gene:
G6PD (glucose-6-phosphate dehydrogenase) is a protein-coding gene. Diseases associated with G6PD include kernicterus, and hemolytic anemia. GO annotations related to this gene include protein homodimerization activity and glucose binding. An important paralog of this gene is H6PD.

UniProtKB/Swiss-Prot: G6PD_HUMAN, P11413
Function: Catalyzes the rate-limiting step of the oxidative pentose-phosphate pathway, which represents a route
for the dissimilation of carbohydrates besides glycolysis. The main function of this enzyme is to provide
reducing power (NADPH) and pentose phosphates for fatty acid and nucleic acid synthesis

Gene Wiki entry for G6PD (Glucose-6-phosphate dehydrogenase) Gene

PharmGKB "VIP" summary for G6PD


(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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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_011681.17  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the G6PD gene promoter:
         TBP   p53   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): G6PD promoter sequence
   Search Chromatin IP Primers for G6PD

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat G6PD


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

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

G6PD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
G6PD gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM153759:  view genomic region     (about GC identifiers)

Start:
153,759,606 bp from pter      End:
153,775,787 bp from pter
Size:
16,182 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: G6PD_HUMAN, P11413 (See protein sequence)
Recommended Name: Glucose-6-phosphate 1-dehydrogenase  
Size: 515 amino acids; 59257 Da
Subunit: Homotetramer; dimer of dimers
Miscellaneous: Binds two molecules of NADP. The first one is a cosubstrate (bound to the N-terminal domain), the
second is bound to the C-terminal domain and functions as a structural element
Sequence caution: Sequence=AAA63175.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
3 PDB 3D structures from and Proteopedia for G6PD:
1QKI (3D)        2BH9 (3D)        2BHL (3D)    
Secondary accessions: D3DWX9 Q16000 Q16765 Q8IU70 Q8IU88 Q8IUA6 Q96PQ2
Alternative splicing: 3 isoforms:  P11413-1   P11413-2   P11413-3   (Contains a phosphoserine at position 26)

Explore the universe of human proteins at neXtProt for G6PD: NX_P11413

Explore proteomics data for G6PD at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys97, Lys171, Lys403
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for G6PD (P11413) (see all 28)
     PDAYERL  GRGGYFD  QIYRIDH  IFTPLLH 


    See G6PD Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000393.4  NP_001035810.1  

    ENSEMBL proteins: 
     ENSP00000377192   ENSP00000377194   ENSP00000358633   ENSP00000395599   ENSP00000400648  
     ENSP00000394690  
    Reactome Protein details: P11413

    G6PD Human Recombinant Protein Products:

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    antibodies-online peptides for G6PD

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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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    5 InterPro protein domains:
     IPR019796 G6P_DH_AS
     IPR022675 G6P_DH_C
     IPR001282 G6P_DH
     IPR022674 G6P_DH_NAD-bd
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry P11413

    ProtoNet protein and cluster: P11413

    1 Blocks protein domain: IPB001282 Glucose-6-phosphate dehydrogenase

    UniProtKB/Swiss-Prot: G6PD_HUMAN, P11413
    Similarity: Belongs to the glucose-6-phosphate dehydrogenase family


    Find genes that share domains with G6PD           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: G6PD_HUMAN, P11413
    Function: Catalyzes the rate-limiting step of the oxidative pentose-phosphate pathway, which represents a route
    for the dissimilation of carbohydrates besides glycolysis. The main function of this enzyme is to provide
    reducing power (NADPH) and pentose phosphates for fatty acid and nucleic acid synthesis
    Catalytic activity: D-glucose 6-phosphate + NADP(+) = 6-phospho-D-glucono-1,5-lactone + NADPH
    Biophysicochemical properties: Kinetic parameters: KM=7.07 uM for NADP; KM=52 uM for glucose 6-phosphate;

         Genatlas biochemistry entry for G6PD:
    glucose-6-phosphate dehydrogenase,dimer,or tetramer of a 59.3kDa subunit,cytosolic,ubiquitously expressed,first
    step of pentose phosphate,pathway mainly involved in the defense against oxidizing agents through NADPH
    production,pentose phosphate pathway

         Enzyme Number (IUBMB): EC 1.1.1.491 2

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004345glucose-6-phosphate dehydrogenase activity IMP2420826
    GO:0005515protein binding IPI--
    GO:0005536glucose binding IMP5643703
    GO:0030246carbohydrate binding ----
    GO:0042803protein homodimerization activity IPI15858258
         
    Find genes that share ontologies with G6PD           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for G6pdx):
     cardiovascular system  cellular  craniofacial  embryogenesis  growth/size/body 
     hematopoietic system  homeostasis/metabolism  mortality/aging  nervous system 

    Find genes that share phenotypes with G6PD           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out G6pdxtm1Luz for G6PD

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    miRNA
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    Block miRNA regulation of human, mouse, rat G6PD using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate G6PD:
    hsa-miR-206 hsa-miR-1237 hsa-miR-3915 hsa-miR-1207-5p hsa-miR-1 hsa-miR-613
    SwitchGear 3'UTR luciferase reporter plasmidG6PD 3' UTR sequence
    Inhib. RNA
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    (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
    cytoskeleton4
    cytosol4
    plasma membrane4
    mitochondrion3
    chloroplast2
    endoplasmic reticulum2
    extracellular2
    nucleus2
    peroxisome2
    golgi apparatus1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome ----
    GO:0005829cytosol TAS--
    GO:0009898cytoplasmic side of plasma membrane IDA743300

    Find genes that share ontologies with G6PD           About GenesLikeMe


    (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 G6PD About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Carbon metabolism
    Carbon metabolism0.38
    Pentose Phosphate Pathway (Erythrocyte)0.00
    pentose phosphate pathway (oxidative branch)0.00
    2Glutathione metabolism
    Glutathione metabolism0.65
    Glutathione metabolism0.45
    3Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    4Pentose Phosphate Pathway (WikiPathways)
    Pentose Phosphate Pathway
    Pentose phosphate pathway (hexose monophosphate shunt)0.00
    5Pentose phosphate pathway (KEGG)
    Pentose phosphate pathway
    pentose phosphate pathway0.00


    Find genes that share SuperPaths with G6PD           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for G6PD
        Glucose / Energy Metabolism

    5 BioSystems Pathways for G6PD
        Sulfation Biotransformation Reaction
    pentose phosphate pathway
    pentose phosphate pathway (oxidative branch)
    Glutathione metabolism
    Pentose Phosphate Pathway


    1 Reactome Pathway for G6PD
        Pentose phosphate pathway (hexose monophosphate shunt)

    2 PharmGKB Pathways for G6PD
        Methylene Blue Pathway, Pharmacodynamics
    Pentose Phosphate Pathway (Erythrocyte)

    4 Kegg Pathways  (Kegg details for G6PD):
        Pentose phosphate pathway
    Glutathione metabolism
    Metabolic pathways
    Carbon metabolism

    UniProtKB/Swiss-Prot: G6PD_HUMAN, P11413
    Pathway: Carbohydrate degradation; pentose phosphate pathway; D-ribulose 5-phosphate from D-glucose 6-phosphate
    (oxidative stage): step 1/3

        Pathway & Disease-focused RT2 Profiler PCR Arrays including G6PD (see all 6): 

              Nephrotoxicity in human mouse rat
              Estrogen Receptor Signaling in human mouse rat
              Cancer PathwayFinder in human mouse rat
              Fatty Liver in human mouse rat
              Diabetes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for G6PD

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

    Selected Interacting proteins for G6PD (P114131, 2, 3 ENSP000003771924) via UniProtKB, MINT, STRING, and/or I2D (see all 74) (see top 5)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPB1P047921, 2, 3, ENSP000002485534EBI-4289891,EBI-352682 MINT-8142253 MINT-8142240 I2D: score=2 STRING: ENSP00000248553
    GPIP067443, ENSP000003488774I2D: score=1 STRING: ENSP00000348877
    PGLSO953363, ENSP000002526034I2D: score=1 STRING: ENSP00000252603
    SLC25A1P530073, ENSP000002158824I2D: score=1 STRING: ENSP00000215882
    SUMO4Q6EEV63, ENSP000003186354I2D: score=1 STRING: ENSP00000318635
    TALDO1P378373, ENSP000003212594I2D: score=1 STRING: ENSP00000321259
    TCP1P179873, ENSP000003173344I2D: score=1 STRING: ENSP00000317334
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    RPEQ96AT93, ENSP000003524014I2D: score=1 STRING: ENSP00000352401
    TKTP294013, ENSP000004054554I2D: score=1 STRING: ENSP00000405455
    NPPAP011603, ENSP000003656634I2D: score=1 STRING: ENSP00000365663
    PGDP522093I2D: score=2 
    CCT8P509903I2D: score=1 
    DNAJA1P316893I2D: score=1 
    DTYMKP239193I2D: score=1 
    HSP90AA1P079003I2D: score=1 
    MAPRE1Q156913I2D: score=1 
    MRE11AP499593I2D: score=1 
    PDCD11Q146903I2D: score=1 
    PDIA4P136673I2D: score=1 
    PFDN5Q994713I2D: score=1 
    PSMD14O004873I2D: score=1 
    RAB6AP203403I2D: score=1 
    RAB6BQ9NRW13I2D: score=1 
    RBX1P628773I2D: score=1 
    TRIT1Q9H3H13I2D: score=1 
    UFD1LENSP000002632024STRING: ENSP00000263202
    H6PDENSP000003666204STRING: ENSP00000366620
    FAF2ENSP000002619424STRING: ENSP00000261942
    NPLOC4ENSP000003314874STRING: ENSP00000331487
    USP13ENSP000002639664STRING: ENSP00000263966
    ASNA1ENSP000003498874STRING: ENSP00000349887
    GET4ENSP000002658574STRING: ENSP00000265857
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 23):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001816cytokine production IMP17361089
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006006glucose metabolic process ----
    GO:0006098pentose-phosphate shunt TAS--
    GO:0006629lipid metabolic process TAS17361089

    Find genes that share ontologies with G6PD           About GenesLikeMe



    (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 Tocris compounds for G6PD

    8 HMDB Compounds for G6PD    About this table
    CompoundSynonyms CAS #PubMed Ids
    6-Phosphonoglucono-D-lactone6-(dihydrogen phosphate)-(8CI)-D-Gluconic acid delta-lactone (see all 13)2641-81-8--
    Beta-D-Glucose 6-phosphatebeta-D-glucose 6-(dihydrogen phosphate) (see all 3)----
    Gluconolactone1,5-Gluconolactone (see all 35)90-80-2--
    Glucose 6-phosphateD(+)-Glucopyranose 6-phosphate (see all 11)56-73-5--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--
    Phenolacide carbolique (see all 51)108-95-2--
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--

    2 DrugBank Compounds for G6PD    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2'-Monophosphoadenosine 5'-Diphosphoribose-- --target--17139284 17016423
    Hydroxyacetic Acid-- 79-14-1target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for G6PD gene (see all 149)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucose 6-phosphate 99.1 3680 8790979 (6), 12902098 (6), 12438773 (6), 12476860 (6) (see all 99)
    6-phosphogluconate 86 89 8790979 (4), 8955144 (2), 1637668 (2), 7875715 (2) (see all 56)
    primaquine 81.1 80 1986741 (4), 15330059 (3), 8036681 (3), 16968914 (3) (see all 33)
    nadph 78.1 216 14614139 (4), 17675065 (4), 2297768 (3), 2269430 (3) (see all 99)
    nadp+ 74.8 64 16934959 (3), 15858258 (3), 14980702 (2), 2403336 (2) (see all 33)
    neotetrazolium 66.7 4 7930518 (1), 10582692 (1), 9306960 (1)
    2',5'-adp 64.4 4 15003259 (1), 12696635 (1), 11237690 (1), 14704475 (1)
    superoxide 62.7 136 17675065 (4), 8899868 (3), 14973180 (2), 10395749 (2) (see all 99)
    o-ethylhydroxylamine 62.3 1 10087986 (1)
    pyruvate 61.3 80 1434530 (4), 2168088 (2), 2049468 (2), 8869370 (2) (see all 57)

    Selected PharmGKB related drug/compound annotations for G6PD gene (see all 36)    About this table
    Drug/compound PharmGKB Annotation
    amodiaquineCA  
    artesunateCA  
    aspirinCA  
    chloramphenicolCA  
    chloroquine  CA  
    chlorproguanilCA  
    chlorpropamide
    ciprofloxacinCA  
    dabrafenib
    dapsone  CA  



    Find genes that share compounds with G6PD           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for G6PD gene (2 alternative transcripts): 
    NM_000402.4  NM_001042351.2  

    Unigene Cluster for G6PD:

    Glucose-6-phosphate dehydrogenase
    Hs.461047  [show with all ESTs]
    Unigene Representative Sequence: X03674
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000393562(uc004flx.1 uc004fly.1) ENST00000393564 ENST00000369620
    ENST00000490651 ENST00000439227 ENST00000440967 ENST00000489497 ENST00000433845
    ENST00000497281 ENST00000488434
    miRNA
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    hsa-miR-206 hsa-miR-1237 hsa-miR-3915 hsa-miR-1207-5p hsa-miR-1 hsa-miR-613
    SwitchGear 3'UTR luciferase reporter plasmidG6PD 3' UTR sequence
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    Additional mRNA sequence: 

    AK292304.1 AK302341.1 BC000337.2 M21248.1 M27940.1 S58359.1 X03674.1 

    22 DOTS entries:

    DT.217832  DT.121293712  DT.100886708  DT.100886711  DT.97760191  DT.95181123  DT.91651365  DT.95181033 
    DT.99948311  DT.100886676  DT.100886712  DT.121294781  DT.92459873  DT.100886703  DT.121293725  DT.95181124 
    DT.100886697  DT.121293821  DT.121294265  DT.80100454  DT.95181111  DT.95181122 

    Selected AceView cDNA sequences (see all 494):

    BU543660 BI829464 BI836599 BP356172 BQ952738 BQ053958 F12517 BF219760 
    BM554297 CD251772 BE729283 BG252525 BU189943 BI829519 CB107414 AA311501 
    BM676989 BE276689 BQ941900 BU175422 AL527352 CA488022 BI333724 BQ052829 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for G6PD (see all 8)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b
    SP1:                                                                                                                                    
    SP2:              -                                                                                                                     
    SP3:              -                                                                                                                     
    SP4:                                                                                                                                    
    SP5:                                                                                                                                    


    ECgene alternative splicing isoforms for G6PD

    (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)
    About This Section

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    G6PD expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCTTGAACC
    G6PD Expression
    About this image


    G6PD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Ovary (Reproductive System)
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
    G6PD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    G6PD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.461047

    UniProtKB/Swiss-Prot: G6PD_HUMAN, P11413
    Tissue specificity: Isoform Long is found in lymphoblasts, granulocytes and sperm

        Pathway & Disease-focused RT2 Profiler PCR Arrays including G6PD (see all 6): 
              Nephrotoxicity in human mouse rat
              Estrogen Receptor Signaling in human mouse rat
              Cancer PathwayFinder in human mouse rat
              Fatty Liver in human mouse rat
              Diabetes in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for G6PD

    (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 G6PD gene from Selected species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia G6pdx1 , 5 glucose-6-phosphate dehydrogenase X-linked1, 5 87.44(n)1
    93.79(a)1
      X (38.00 cM)5
    143811  NM_008062.21  NP_032088.11 
     744094835 
    lizard
    (Anolis carolinensis)
    Reptilia G6PD6
    glucose-6-phosphate dehydrogenase
    79(a)
    1 ↔ 1
    2(89699583-89736533)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC059324.12   -- 75.59(n)    BC059324.1 
    zebrafish
    (Danio rerio)
    Actinopterygii g6pd1 glucose-6-phosphate dehydrogenase 69.76(n)
    76.4(a)
      570579  XM_694076.5  XP_699168.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta Zw1 , 3 pentose-phosphate shunt
    glucose-6-phosphate 1-dehydrogenase3
    Zwischenferment1
    65(a)
    (best of 2)3
    68.62(n)1
    65.18(a)1
      1 18D133
    329741  NM_078687.11  NP_523411.11 
    worm
    (Caenorhabditis elegans)
    Secernentea B0035.53
    gspd-11
    glucose-6-phosphate-1-dehydrogenase3
    gspd-11
    60(a)3
    58.63(n)1
    61.75(a)1
      IV(11317595-11319951)3
    1780461  NM_069728.41  NP_502129.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ZWF11 ZWF1 54.68(n)
    49.79(a)
      855480   NP_014158.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons G6PD61 G6PD6 54.99(n)
    55.98(a)
      834076  NM_123441.2  NP_198892.1 
    rice
    (Oryza sativa)
    Liliopsida AK100545.12   -- 73.15(n)    AK100545.1 


    ENSEMBL Gene Tree for G6PD (if available)
    TreeFam Gene Tree for G6PD (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for G6PD gene
    H6PD2  
    1 SIMAP similar gene for G6PD using alignment to 16 protein entries:     G6PD_HUMAN (see all proteins):
    H6PD

    Find genes that share paralogs with G6PD           About GenesLikeMe



    (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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    G6PD_HUMAN, P11413: The sequence shown is that of variant B, the most common variant


    Selected SNPs for G6PD (see all 343)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0024754
    Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA)4--see VAR_0024752 R P mis40--------
    VAR_0025004
    Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA)4--see VAR_0025002 V L mis40--------
    VAR_0024984
    Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA)4--see VAR_0024982 R C mis40--------
    VAR_0025064
    Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA)4--see VAR_0025062 R P mis40--------
    VAR_0025044
    Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA)4--see VAR_0025042 G D mis40--------
    rs767236931,2,,4
    C,Fpathogenic1153629722(-) GTACCT/CGGACG 4 /P /L mis11Minor allele frequency- C:0.00NA 4544
    rs1378523301,2
    Cpathogenic1153631087(-) TCTACC/TGCATC 4 R C mis10--------
    rs10508291,2,,4
    C,F,A,Hpathogenic1153631974(-) CATNGA/GATGCC 4 N D mis1 ese317Minor allele frequency- G:0.11MN NS NA WA 6364
    rs10508281,2,,4
    C,F,Hpathogenic1153632699(-) TCATCG/ATGGGC 4 /M /V mis126Minor allele frequency- A:0.04MN NS EA NA 7898
    rs725546651,2,,4
    Cuntested1153628966(-) GCTCCC/G/TTGAGG 6 P R L mis10--------

    HapMap Linkage Disequilibrium report for G6PD (153759606 - 153775787 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for G6PD:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508816CNV Insertion20534489
    nsv519042CNV Gain19592680
    esv33199CNV Gain+Loss17666407
    esv33784CNV Gain+Loss17666407

    Human Gene Mutation Database (HGMD): G6PD
    Locus Specific Mutation Databases (LSDB): G6PD

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing G6PD
    DNA2.0 Custom Variant and Variant Library Synthesis for G6PD

    (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: 305900   
    OMIM disorders: 300908  134700  611162  
    UniProtKB/Swiss-Prot: G6PD_HUMAN, P11413
  • Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]: A disease characterized by
    G6PD deficiency, acute hemolytic anemia, fatigue, back pain, and jaundice. In most patients, the disease is
    triggered by an exogenous agent, such as some drugs, food, or infection. Increased unconjugated bilirubin,
    lactate dehydrogenase, and reticulocytosis are markers of the disorder. Although G6PD deficiency can be
    life-threatening, most patients are asymptomatic throughout their life. Note=The disease is caused by mutations
    affecting the gene represented in this entry. Deficiency of G6PD is associated with hemolytic anemia in two
    different situations. First, in areas in which malaria has been endemic, G6PD-deficiency alleles have reached
    high frequencies (1% to 50%) and deficient individuals, though essentially asymptomatic in the steady state, have
    a high risk of acute hemolytic attacks. Secondly, sporadic cases of G6PD deficiency occur at a very low
    frequencies, and they usually present a more severe phenotype. Several types of NSHA are recognized. Class-I
    variants are associated with severe NSHA; class-II have an activity <10% of normal; class-III have an activity of
    10% to 60% of normal; class-IV have near normal activity

  • Selected diseases for G6PD (see all 43):    
    About MalaCards
    kernicterus    hemolytic anemia    neonatal jaundice    senile cataract
    favism    malaria due to g6pd deficiency    glucosephosphate dehydrogenase deficiency    blackwater fever
    mediterranean spotted fever    blood group incompatibility    diabetic cataract    pyruvate kinase deficiency
    congenital nonspherocytic hemolytic anemia    glucosephosphate isomerase deficiency    acute diarrhea    boutonneuse fever
    congenital hemolytic anemia    aseptic meningitis    gilbert syndrome    hepatitis a

    10 diseases from the University of Copenhagen DISEASES database for G6PD:
    Glucosephosphate dehydrogenase deficiency     Neonatal jaundice     Anemia     Bilirubin metabolic disorder
    Malaria     Kernicterus     Color blindness     Thalassemia
    Diabetes mellitus     Cancer

    Find genes that share disorders with G6PD           About GenesLikeMe

    Selected Novoseek inferred disease relationships for G6PD gene (see all 99)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    g6pd deficiency 99.3 2782 12971572 (11), 11903742 (10), 19789650 (9), 18582416 (9) (see all 99)
    favism 94 58 8991858 (3), 15957246 (2), 16513531 (2), 10571945 (2) (see all 29)
    enzymopathy 92.4 86 8813716 (2), 2386513 (1), 2393028 (1), 8235390 (1) (see all 48)
    jaundice neonatal 90.8 156 11317924 (6), 1468858 (5), 16255851 (4), 19422023 (3) (see all 70)
    kernicterus 88.2 71 12729287 (4), 20113600 (3), 17483701 (3), 12208096 (2) (see all 38)
    anemia hemolytic 87.8 196 19494543 (4), 15645702 (3), 9332310 (3), 18677765 (3) (see all 99)
    hemolysis 87 294 20118060 (4), 11783956 (4), 8703811 (3), 16603783 (3) (see all 99)
    enzyme deficiency 84.2 60 8579339 (1), 8639919 (1), 12737943 (1), 2386511 (1) (see all 41)
    hyperbilirubinemia 83 134 20051781 (4), 10091404 (3), 17483701 (3), 12368976 (3) (see all 63)
    blackwater fever 75.4 3 7859663 (1), 9402415 (1), 19589177 (1)

    Genatlas disease: G6PD
    anemia,non spherocytic,congenital,hemolytic anemia,favism

    Genetic Association Database (GAD): G6PD
    Human Genome Epidemiology (HuGE) Navigator: G6PD (90 documents)

    Export disorders for G6PD 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 G6PD gene, integrated from 10 sources (see all 1672):
    (articles sorted by number of sources associating them with G6PD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia. (PubMed id 7959695)1, 2, 4 Filosa S....Martini G. (Hum. Genet. 1994)
    2. Human glucose-6-phosphate dehydrogenase: primary structure and cDNA cloning. (PubMed id 3012556)1, 2, 3 Takizawa T.... Yoshida A. (Proc. Natl. Acad. Sci. U.S.A. 1986)
    3. Structural analysis of the X-linked gene encoding human glucose 6- phosphate dehydrogenase. (PubMed id 2428611)1, 2, 3 Martini G.... Persico M.G. (EMBO J. 1986)
    4. Glucose-6-phosphate dehydrogenase (G6PD) mutations in Thailand: G6PD Viangchan (871G&gt;A) is the most common deficiency variant in the Thai population. (PubMed id 11793482)1, 4, 9 Nuchprayoon I....Nuchprayoon S. (Hum. Mutat. 2002)
    5. The impact of phenotypic and genotypic G6PD deficiency on risk of plasmodium vivax infection: a case-control study amongst Afghan refugees in Pakistan. (PubMed id 20520804)1, 4, 9 Leslie T....Rowland M. (PLoS Med. 2010)
    6. Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Malays. (PubMed id 12497642)1, 4, 9 Ainoon O....Hamidah N.H. (Hum. Mutat. 2003)
    7. Molecular study of eight Japanese cases of glucose-6-phosphate dehydrogenase deficiency by nonradioisotopic single-strand conformation polymorphism analysis. (PubMed id 8193373)1, 2, 9 Hirono A.... Kubota K. (Blood 1994)
    8. The prevalence of factor V Leiden, prothrombin G20210A and methylenetetrahydrofolate reductase polymorphism C677T among G6PD deficient individuals from Western Iran. (PubMed id 19219640)1, 4, 9 Mozafari H....Muniz A. (Mol. Biol. Rep. 2009)
    9. Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in the south of Thailand and identification of a novel variant (G6PD Songklanagarind). (PubMed id 15727905)1, 4, 9 Laosombat V....Matsuo M. (amp 2005)
    10. Molecular basis of G6PD deficiency in India. (PubMed id 15315792)1, 4, 9 Sukumar S....Mohanty D. (amp 2004)

    (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: 2539 HGNC: 4057 AceView: G6PD Ensembl:ENSG00000160211 euGenes: HUgn2539
    ECgene: G6PD Kegg: 2539 H-InvDB: G6PD

    (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 G6PD Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for G6PD Genetics and Cytogenetics in Oncology and Haematology
    G6PDhttp://rialto.com/g6pd/
    G6PDdbhttp://www.bioinf.org.uk/g6pd/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=G6PD[genesymbol]
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=G6PD

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for G6PD gene:
    Search GeneIP for patents involving G6PD

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



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