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G6PC3 Gene

protein-coding   GIFtS: 57
GCID: GC17P042148

Glucose 6 Phosphatase, Catalytic, 3

  See G6PC3-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 Phosphatase, Catalytic, 31 2     EC 3.1.3.93 8
UGRP2 3 5     SCN42 5
Ubiquitous Glucose-6-Phosphatase Catalytic Subunit-Related Protein2 3     Glucose-6-Phosphatase 32
G6Pase-beta2 3     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   

Export aliases for G6PC3 gene to outside databases

Previous GC identifers: GC17P042623 GC17P039503 GC17P037912


(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 G6PC3 Gene:
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)

GeneCards Summary for G6PC3 Gene:
G6PC3 (glucose 6 phosphatase, catalytic, 3) is a protein-coding gene. Diseases associated with G6PC3 include dursun syndrome, and severe congenital neutropenia, autosomal recessive, 4. GO annotations related to this gene include glucose-6-phosphatase activity. An important paralog of this gene is G6PC2.

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 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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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   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 Chromatin IP Primers for G6PC3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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)

ORGUL Member Locations for G6PC3

(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, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: G6PC3_HUMAN, Q9BUM1 (See protein sequence)
Recommended Name: Glucose-6-phosphatase 3  
Size: 346 amino acids; 38735 Da
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

Explore proteomics data for G6PC3 at MOPED

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


See G6PC3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

G6PC3 Human Recombinant Protein Products:

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antibodies-online proteins for G6PC3 (2 products) 

 
antibodies-online peptides for G6PC3

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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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2 InterPro protein domains:
 IPR016275 Glucose-6-phosphatase
 IPR000326 P_Acid_Pase_2/haloperoxidase

Graphical View of Domain Structure for InterPro Entry Q9BUM1

ProtoNet protein and cluster: Q9BUM1

1 Blocks protein domain: IPB000326 PA-phosphatase related phosphoesterase

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


Find genes that share domains with G6PC3           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: 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

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003824catalytic activity ----
GO:0004346glucose-6-phosphatase activity IEA--
     
Find genes that share ontologies with G6PC3           About GenesLikeMe


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

     6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for G6pc3):
 endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
 mortality/aging 

Find genes that share phenotypes with G6PC3           About GenesLikeMe

Animal Models:
     MGI mouse knock-outs for G6PC3: G6pc3tm1Jyc G6pc3tm1Rmob G6pc3tm1Lex

   genOway: Develop your customized and physiologically relevant rodent model for G6PC3

miRNA
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miRTarBase miRNAs that target G6PC3:
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Block miRNA regulation of human, mouse, rat G6PC3 using miScript Target Protectors
7 qRT-PCR Assays for microRNAs that regulate G6PC3:
hsa-miR-3659 hsa-miR-122 hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-4260 hsa-miR-27b
SwitchGear 3'UTR luciferase reporter plasmidG6PC3 3' UTR sequence
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat G6PC3

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for G6PC3


(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
G6PC3_HUMAN, Q9BUM1: Endoplasmic reticulum membrane; Multi-pass membrane protein
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
endoplasmic reticulum5
plasma membrane3

Gene Ontology (GO): 4 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005783endoplasmic reticulum ----
GO:0005789endoplasmic reticulum membrane TAS--
GO:0016020membrane ----
GO:0016021integral component of membrane IEA--

Find genes that share ontologies with G6PC3           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 G6PC3 About   (see all 12)  
See pathways by source

SuperPathContained pathways About
1Glycolysis and gluconeogenesis short map
Glycolysis / Gluconeogenesis0.46
gluconeogenesis0.39
2Metabolism
Metabolism0.38
Metabolic pathways0.38
3Regulation of Glucokinase by Glucokinase Regulatory Protein
Glucose transport0.87
Hexose transport0.87
4Transport 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
5MPS VI - Maroteaux-Lamy syndrome
Metabolism of carbohydrates0.45


Find genes that share SuperPaths with G6PC3           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


1 BioSystems Pathway for G6PC3
    gluconeogenesis


1 Reactome Pathway for G6PC3
    Glucose transport


Selected Kegg Pathways  (Kegg details for G6PC3) (see all 9):
    Glycolysis / Gluconeogenesis
Galactose metabolism
Starch and sucrose metabolism
Metabolic pathways
FoxO signaling pathway

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

    Pathway & Disease-focused RT2 Profiler PCR Array including G6PC3: 

          Glucose Metabolism in human mouse rat

Interactions:

    Search GeneGlobe Interaction Network for G6PC3

Gene Ontology (GO): Selected biological process terms (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--

Find genes that share ontologies with G6PC3           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 Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

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--



(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 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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7 qRT-PCR Assays for microRNAs that regulate G6PC3:
hsa-miR-3659 hsa-miR-122 hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-4260 hsa-miR-27b
SwitchGear 3'UTR luciferase reporter plasmidG6PC3 3' UTR sequence
Inhib. RNA
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  QuantiFast Probe-based Assays in human, mouse, rat G6PC3

Additional mRNA 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 

Selected AceView cDNA sequences (see all 365):

AJ572709 CR607017 BU185102 AL523656 CR615676 AI248018 BU849203 BM555976 
CA454159 BM969144 BM561798 BU187038 CR591259 BU196556 BG257985 BQ677373 
CA488619 CA454048 CR619652 CA489255 BX331724 BM480289 AL572570 AI283242 

GeneLoc Exon Structure

Selected 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™, 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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G6PC3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TTCAGTGCCC
G6PC3 Expression
About this image

G6PC3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

G6PC3 Protein Expression

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

    Pathway & Disease-focused RT2 Profiler PCR Array including G6PC3: 
          Glucose Metabolism in human mouse rat

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QuantiFast Probe-based Assays in human, mouse, rat G6PC3
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)
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This gene was present in the common ancestor of animals.

Orthologs for G6PC3 gene from Selected species (see all 13)    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 G6PC31 glucose 6 phosphatase, catalytic, 3 60.32(n)
53.54(a)
  100859356  XM_003643811.2  XP_003643859.1 
lizard
(Anolis carolinensis)
Reptilia G6PC36
glucose 6 phosphatase, catalytic, 3
47(a)
1 ↔ 1
6(78382690-78398203)
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 g6pc31 glucose 6 phosphatase, catalytic, 3 52.91(n)
46.99(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)
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Paralogs for G6PC3 gene
G6PC22  G6PC2  
2 SIMAP similar genes for G6PC3 using alignment to 5 protein entries:     G6PC3_HUMAN (see all proteins):
G6PC    G6PC2

Find genes that share paralogs with G6PC3           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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Selected SNPs for G6PC3 (see all 225)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1402942221,2,,4
C,FNeutropenia, severe congenital 4, autosomal recessive (SCN4)4 --42943339(+) TCCCCG/AAGTGC 4 /Q /R mis11Minor allele frequency- A:0.00NA 4552
VAR_0645094
Dursun syndrome (DURSS)4--see VAR_0645092 M V mis40--------
VAR_0551584
Neutropenia, severe congenital 4, autosomal recessive (SCN4)4--see VAR_0551582 G R mis40--------
VAR_0645114
Neutropenia, severe congenital 4, autosomal recessive (SCN4)4--see VAR_0645112 G R mis40--------
VAR_0551574
Neutropenia, severe congenital 4, autosomal recessive (SCN4)4--see VAR_0551572 R H mis40--------
VAR_0645084
Neutropenia, severe congenital 4, autosomal recessive (SCN4)4--see VAR_0645082 M K mis40--------
VAR_0551564
Neutropenia, severe congenital 4, autosomal recessive (SCN4)4--see VAR_0551562 L P mis40--------
rs342125731,2
C--37911250(+) AAAAA-/A/A   
   A
/AAA
CTTTT
3 -- us2k12NA 4
rs1432871871,2
C--37914018(+) ACCTC-/TTTGTCT 3 -- int10--------
rs1121086401,2
C,F--42147155(+) GTGCCC/TCCACG 3 -- us2k12Minor allele frequency- T:0.50WA CSA 4

HapMap Linkage Disequilibrium report for G6PC3 (42148098 - 42153712 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for G6PC3:    About this table    
Variant IDTypeSubtypePubMed ID
nsv833454CNV Loss17160897

Human Gene Mutation Database (HGMD): G6PC3
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing G6PC3
DNA2.0 Custom Variant and Variant Library Synthesis for G6PC3

(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.)
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OMIM gene information: 611045   
OMIM disorders: 612541  
UniProtKB/Swiss-Prot: G6PC3_HUMAN, Q9BUM1
  • Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]: A disorder of hematopoiesis
    characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute
    neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. Note=The disease is caused
    by mutations affecting the gene represented in this entry
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 5 diseases for G6PC3:    
    About MalaCards
    dursun syndrome    severe congenital neutropenia, autosomal recessive, 4    severe congenital neutropenia    neutropenia
    myotonia

    1 disease from the University of Copenhagen DISEASES database for G6PC3:
    Neutropenia

    Find genes that share disorders with G6PC3           About GenesLikeMe

    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)
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    PubMed articles for G6PC3 gene, integrated from 10 sources (see all 32):
    (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. (J. Mol. Endocrinol. 2002)
    2. Identification and characterisation of a new human glucose-6- phosphatase isoform. (PubMed id 12965222)1, 2, 3 Guionie O.... Burchell A. (FEBS Lett. 2003)
    3. Mutations in the G6PC3 gene cause Dursun syndrome. (PubMed id 20799326)1, 2 Banka S.... Dursun A. (Am. J. Med. Genet. A 2010)
    4. Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis. (PubMed id 20616219)1, 2 McDermott D.H....Murphy P.M. (Blood 2010)
    5. Digenic mutations in severe congenital neutropenia. (PubMed id 20220065)1, 2 Germeshausen M....Welte K. (Haematologica 2010)
    6. A syndrome with congenital neutropenia and mutations in G6PC3. (PubMed id 19118303)1, 2 Boztug K.... Klein C. (N. Engl. J. Med. 2009)
    7. A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations. (PubMed id 23758768)1 Banka S. and Newman W.G. (Orphanet J Rare Dis 2013)
    8. G6PC3 mutations cause non-syndromic severe congenital neutropenia. (PubMed id 23298686)1 Banka S....Newman W.G. (Mol. Genet. Metab. 2013)
    9. Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency. (PubMed id 23180359)1 BAcgin P....Le Deist F. (J. Clin. Immunol. 2013)
    10. Different pattern of gene mutations in Iranian patients with severe congenital neutropenia (including 2 new mutations). (PubMed id 23454784)1 Alizadeh Z....Moin M. (Iran J Allergy Asthma Immunol 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 92579 HGNC: 24861 AceView: G6PC3 Ensembl:ENSG00000141349 euGenes: HUgn92579
    ECgene: G6PC3 Kegg: 92579 H-InvDB: G6PC3

    (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 G6PC3 Pharmacogenomics, SNPs, Pathways

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