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

G6PC3 Gene

protein-coding   GIFtS: 56
GCID: GC17P042148

glucose 6 phosphatase, catalytic, 3

 Explore 14 diseases affiliated with
G6PC3 via our new
 Human Malady Compendium 
Biological research products
for G6PC3
    

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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Glucose 6 Phosphatase, Catalytic, 31 2     EC 3.1.3.93 8
UGRP1 2 3 5     SCN42 5
Ubiquitous Glucose-6-Phosphatase Catalytic Subunit-Related Protein2 3     Glucose-6-Phosphatase 32
G6Pase-Beta1     Glucose-6-Phosphatase Catalytic Subunit 32
G-6-Pase 32 3     Ubiquitously Expressed G6Pase Catalytic Subunit-Related Protein2
G6Pase 32 3     Glucose-6-Phosphatase Beta3

External Ids:    HGNC: 248611   Entrez Gene: 925792   Ensembl: ENSG000001413497   OMIM: 6110455   UniProtKB: Q9BUM13   
ORGUL members:         
NONCODE:n408303 n408304    

Export aliases for G6PC3 gene to outside databases

Previous GC identifers: GC17P042623 GC17P039503 GC17P037912


(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 G6PC3:
This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic
reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the
gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital
neutropenia. Multiple transcript variants have been found for this gene, only one of which is expected to express a
protein.(provided by RefSeq, Sep 2009)

UniProtKB/Swiss-Prot: G6PC3_HUMAN, Q9BUM1
Function: Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. May form with the glucose-6-phosphate
transporter (SLC37A4/G6PT) a ubiquitously expressed complex responsible for glucose production through glycogenolysis
and gluconeogenesis. Probably required for normal neutrophil function

Gene Wiki entry for G6PC3


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the G6PC3 gene promoter:
         TBP   SREBP-1c   MyoD   SREBP-1b   PPAR-gamma1   SREBP-1a   Zic1   TFIID   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidG6PC3 promoter sequence
   Search SABiosciences Chromatin IP Primers for G6PC3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat G6PC3


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

Entrez Gene cytogenetic band: 17q21.31   Ensembl cytogenetic band:  17q21.31   HGNC cytogenetic band: 17q21.31

G6PC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
G6PC3 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P042148:  view genomic region     (about GC identifiers)

Start:
42,148,098 bp from pter      End:
42,153,712 bp from pter
Size:
5,615 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

  • n408304
  • n408303
42148097 42150905 42153712 chr17

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

UniProtKB/Swiss-Prot: G6PC3_HUMAN, Q9BUM1 (See protein sequence)
Recommended Name: Glucose-6-phosphatase 3  
Size: 346 amino acids; 38735 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Caution: According to PubMed:12370122, it has no hydrolytic activity
Secondary accessions: Q8WU15

Explore the universe of human proteins at neXtProt for G6PC3: NX_Q9BUM1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BUM1

  • 3 DME Specific Peptides for G6PC3 (Q9BUM1)
     AHFPHQV  TLWPCLV  VPMERELSFYGLT 

    G6PC3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_612396.1  
    ENSEMBL proteins: 
     ENSP00000269097   ENSP00000466821   ENSP00000467624   ENSP00000466983   ENSP00000468677  
     ENSP00000465111  
    Reactome Protein details: Q9BUM1
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    Uscn Proteins for G6PC3

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum ----
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral to membrane IEA--


    G6PC3 for ontologies           About GeneDecksing



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

    G6PC3 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR016275 Glucose-6-phosphatase
     IPR000326 P_Acid_Pase_2/haloperoxidase
     IPR016118 P_Acid_Pase/Cl_peroxidase_N

    Graphical View of Domain Structure for InterPro Entry Q9BUM1

    ProtoNet protein and cluster: Q9BUM1

    1 Blocks protein family: IPB000326 PA-phosphatase related phosphoesterase

    UniProtKB/Swiss-Prot: G6PC3_HUMAN, Q9BUM1
    Similarity: Belongs to the glucose-6-phosphatase family


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

    Function Summary:

         UniProtKB/Swiss-Prot: G6PC3_HUMAN, Q9BUM1
    Function: Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. May form with the glucose-6-phosphate
    transporter (SLC37A4/G6PT) a ubiquitously expressed complex responsible for glucose production through glycogenolysis
    and gluconeogenesis. Probably required for normal neutrophil function
    Catalytic activity: D-glucose 6-phosphate + H(2)O = D-glucose + phosphate
    Enzyme regulation: Inhibited by vanadate
    Biophysicochemical properties: Kinetic parameters: KM=1.0 mM for glucose-6-phosphate (at pH 5.5); KM=2.0 mM for
    glucose-6-phosphate (at pH 6.5); Note=8 times less active compared to G6PC under the same experimental conditions;

    Enzyme Number (IUBMB): EC 3.1.3.91 2

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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004346glucose-6-phosphatase activity IEA--


    G6PC3 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for G6PC3:
     Decreased melanin production  Increased Akt phosphorylation  

    Animal Models:
         Mouse knock-outs for G6PC3: G6pc3tm1Jyc G6pc3tm1Rmob G6pc3tm1Lex
         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for G6pc3):
     endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism  immune system 
     mortality/aging 

    G6PC3 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport1.00
    Transmembrane transport of small molecules0.50
    2Translocation of Influenza A virus nonstructural protein 1 (NS1A) into the nucleus
    Glucose transport0.57
    Hexose transport0.55
    3Metabolism
    Metabolism1.00
    4MPS IIIC - Sanfilippo syndrome C
    Metabolism of carbohydrates0.47

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/6        Reactome Pathways for G6PC3 (see all 6)
        Metabolism of carbohydrates
    SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Hexose transport
    Metabolism


    UniProtKB/Swiss-Prot: G6PC3_HUMAN, Q9BUM1
    Pathway: Carbohydrate biosynthesis; gluconeogenesis


    G6PC3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for G6PC3

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006094gluconeogenesis IEA--
    GO:0006796phosphate-containing compound metabolic process ----
    GO:0008645hexose transport TAS--
    GO:0015758glucose transport TAS--


    G6PC3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for G6PC3

    2 HMDB Compounds for G6PC3    About this table
    CompoundSynonyms CAS #PubMed Ids
    Glucose 6-phosphateD(+)-Glucopyranose 6-phosphate (see all 11)56-73-5--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    Search CenterWatch for drugs/clinical trials and news about G6PC3 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for G6PC3 gene: 
    NM_138387.3  

    Unigene Cluster for G6PC3:

    Glucose 6 phosphatase, catalytic, 3
    Hs.294005  [show with all ESTs]
    Unigene Representative Sequence: AK091417
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000269097(uc002iey.3 uc002iez.3 uc002iex.3) ENST00000593115
    ENST00000588558 ENST00000585361 ENST00000591696 ENST00000585962 ENST00000590639
    ENST00000590253

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    Additional cDNA sequence: 

    AK091417.1 BC002494.2 BC021574.1 BC062596.1 NR_028581.1 NR_028582.1 

    17 DOTS entries:

    DT.214766  DT.100817498  DT.100817495  DT.100817504  DT.95245069  DT.100817486  DT.100817488  DT.120906481 
    DT.99939549  DT.100817499  DT.100817490  DT.92046312  DT.92452291  DT.95245003  DT.99926739  DT.100654599 
    DT.120668865 

    24/365 AceView cDNA sequences (see all 365):

    BQ011208 CR617855 BU185102 CR601615 BU849203 CR608514 CA454913 BI918289 
    BM051653 NM_138387 CR605360 CA489255 BE392626 BE384894 BU151257 BG257985 
    BQ434608 AI670976 BU196556 CA489327 AL525339 BU187038 AL530093 AI540614 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for G6PC3 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d · 7e
    SP1:                    -                                   -                                             
    SP2:                    -     -     -                       -                                             
    SP3:                          -     -                       -                                             
    SP4:                    -     -     -                 -     -                                             
    SP5:                    -     -     -                       -                                             


    ECgene alternative splicing isoforms for G6PC3

    (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

    G6PC3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCAGTGCCC

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

    About this image
    See G6PC3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for G6PC3

    SOURCE GeneReport for Unigene cluster: Hs.294005

    UniProtKB/Swiss-Prot: G6PC3_HUMAN, Q9BUM1
    Tissue specificity: Ubiquitously expressed. Highly expressed in skeletal muscle, at intermediate levels in heart,
    brain, placenta, kidney, colon, thymus, spleen and pancreas. Also detected in testis, prostate, ovary, liver, lung,
    small intestine and peripheral blood lymphocytes

        SABiosciences Expression via Pathway-Focused PCR Array including G6PC3: 
              Glucose Metabolism in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for G6PC3

    (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 G6PC3 gene from 6/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia G6pc31 , 5 glucose 6 phosphatase, catalytic, 31, 5 85.45(n)1
    84.1(a)1
      11 (65.79 cM)5
    684011  NM_175935.31  NP_787949.21 
     1021896205 
    chicken
    (Gallus gallus)
    Aves LOC1008593561 glucose-6-phosphatase 3-like 60.32(n)
    53.54(a)
      100859356  XM_003643811.1  XP_003643859.1 
    lizard
    (Anolis carolinensis)
    Reptilia G6PC36
    --
    53(a)
    1 ↔ 1
    6(78385276-78398203)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.150982 Transcribed sequence with weak similarity to protein more 77.6(n)    BX706303.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1584251 zgc:158425 53.25(n)
    46.85(a)
      790919  NM_001080066.1  NP_001073535.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG154006
    --
    18(a)
    1 → many
    2L(2814336-2815760)


    ENSEMBL Gene Tree for G6PC3 (if available)
    TreeFam Gene Tree for G6PC3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for G6PC3 gene
    G6PC2  G6PC22  
    2 SIMAP similar genes for G6PC3 using alignment to 5 protein entries:     G6PC3_HUMAN (see all proteins):
    G6PC    G6PC2

    G6PC3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/155 NCBI SNPs in G6PC3 are shown (see all 155    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1134108701,2
    C,--37910594(+) GATTTA/CTATCC 3 -- us2k12Minor allele frequency- C:0.05WA 120
    rs29312741,2
    C,--37910867(+) CACCCG/ACCCTG 3 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1121086401,2
    C,F,--37911086(+) GTGCCC/TCCACG 3 -- us2k12Minor allele frequency- T:0.50WA CSA 4
    rs118685601,2
    H--37911140(+) tgttgC/Gccagg 3 -- us2k10--------
    rs747522331,2
    C,F,--37911514(+) TGGAAG/AGAAGT 3 -- us2k11Minor allele frequency- A:0.04WA 118
    rs1792661,2
    C,H--37911619(-) CCTTTC/TTAATT 3 -- us2k1 trp35Minor allele frequency- T:0.00NS EA NA 420
    rs2287581,2
    C,F,H,--37912136(-) CCAGCG/AGTCAC 3 -- nc-transcript-variantut51 ese37Minor allele frequency- A:0.25NS EA NA 660
    rs116541321,2
    C,H,--37913065(+) ccccgG/Agccag 3 -- nc-transcript-variantint13Minor allele frequency- A:0.11NA WA 240
    rs47930751,2
    H,--37913152(+) aagcaC/TtgCTT 3 -- int14Minor allele frequency- T:0.00NS EA 418
    rs284946651,2
    --37913202(+) GTAGAC/TTCTTC 3 -- int10--------

    HapMap Linkage Disequilibrium report for G6PC3 (42148098 - 42153712 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for G6PC3: --
    Human Gene Mutation Database (HGMD): G6PC3

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

    G6PC3 for disorders           About GeneDecksing

    OMIM gene information: 611045   
    OMIM disorders: 612541  
    UniProtKB/Swiss-Prot: G6PC3_HUMAN, Q9BUM1
  • Defects in G6PC3 are the cause of neutropenia severe congenital autosomal recessive type 4 (SCN4)
  • [MIM:612541]. Autosomal recessive SCN constitutes a primary immunodeficiency syndrome associated with increased
    apoptosis in myeloid cells. Individuals show a paucity of mature neutrophils in peripheral blood and bone marrow and
    develop life-threatening bacterial infections. SCN4 is a severe congenital neutropenia syndrome associated with
    cardiac and urogenital malformations
  • Defects in G6PC3 are the cause of Dursun syndrome (DURSS) [MIM:612541]. A disease characterized by pulmonary
  • arterial hypertension, cardiac abnormalities including secundum-type atrial septal defect, intermittent neutropenia,
    lymphopenia, monocytosis and anemia

    14 diseases for G6PC3:    About MalaCards
    severe congenital neutropenia    neutropenia    glycogen storage disease type ia    glycogen storage disease
    darsun syndrome    myelokathexis    myotonia    chronic lymphocytic leukemia
    lymphocytic leukemia    lymphopenia    hypoglycemia    leukemia
    cholesterol    prostatitis

    2 diseases from the University of Copenhagen DISEASES database for G6PC3:
    Neutropenia     Glycogen storage disease
    Human Genome Epidemiology (HuGE) Navigator: G6PC3 (2 documents)

    Export disorders for G6PC3 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 G6PC3 gene, integrated from 9 sources (see all 28):
    (articles sorted by number of sources associating them with G6PC3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit- related protein. (PubMed id 12370122)1, 2, 3, 9 Martin C.C....O'Brien R.M. (2002)
    2. Identification and characterisation of a new human glucose-6- phosphatase isoform. (PubMed id 12965222)1, 2, 3 Guionie O.... Burchell A. (2003)
    3. Digenic mutations in severe congenital neutropenia. (PubMed id 20220065)1, 2 Germeshausen M....Welte K. (2010)
    4. Mutations in the G6PC3 gene cause Dursun syndrome. (PubMed id 20799326)1, 2 Banka S....Dursun A. (2010)
    5. Severe congenital neutropenia resulting from G6PC3 de ficiency with increased neutrophil CXCR4 expression and myelokathexis. (PubMed id 20616219)1, 2 McDermott D.H....Murphy P.M. (2010)
    6. A syndrome with congenital neutropenia and mutations in G6PC3. (PubMed id 19118303)1, 2 Boztug K.... Klein C. (2009)
    7. Phenotypic heterogeneity and evidence of a founder eff ect associated with G6PC3 mutations in patients with severe congenital neutropen ia. (PubMed id 22469094)1 Smith B.N....Gale R.E. (2012)
    8. Extended spectrum of human glucose-6-phosphatase catal ytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia. (PubMed id 22050868)1 Boztug K....Klein C. (2012)
    9. G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction. (PubMed id 21385794)1 Hayee B....Segal A.W. (2011)
    10. Homozygosity mapping and whole-exome sequencing to de tect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albini sm and neutropenia. (PubMed id 21677667)1 Cullinane A.R....Gahl W.A. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 92579 HGNC: 24861 AceView: G6PC3 Ensembl:ENSG00000141349 euGenes: HUgn92579
    ECgene: G6PC3 H-InvDB: G6PC3

    (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 G6PC3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for G6PC3 gene:
    Search GeneIP for patents involving G6PC3

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



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