Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

G6PC (glucose-6-phosphatase catalytic subunit)

Identity

Alias_namesvon Gierke disease
G6PT
Alias_symbol (synonym)GSD1a
HGNC (Hugo) G6PC
LocusID (NCBI) 2538
Atlas_Id 45859
Location 17q21.31  [Link to chromosome band 17q21]
Location_base_pair Starts at 41052814 and ends at 41066450 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
G6PC (17q21.31) / TXNL4B (16q22.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Glycogen storage disease type I (GSD I)


External links

Nomenclature
HGNC (Hugo)G6PC   4056
LRG (Locus Reference Genomic)LRG_147
Cards
Entrez_Gene (NCBI)G6PC  2538  glucose-6-phosphatase catalytic subunit
AliasesG6PC1; G6PT; GSD1; GSD1a
GeneCards (Weizmann)G6PC
Ensembl hg19 (Hinxton)ENSG00000131482 [Gene_View]  chr17:41052814-41066450 [Contig_View]  G6PC [Vega]
Ensembl hg38 (Hinxton)ENSG00000131482 [Gene_View]  chr17:41052814-41066450 [Contig_View]  G6PC [Vega]
ICGC DataPortalENSG00000131482
TCGA cBioPortalG6PC
AceView (NCBI)G6PC
Genatlas (Paris)G6PC
WikiGenes2538
SOURCE (Princeton)G6PC
Genetics Home Reference (NIH)G6PC
Genomic and cartography
GoldenPath hg19 (UCSC)G6PC  -     chr17:41052814-41066450 +  17q21.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)G6PC  -     17q21.31   [Description]    (hg38-Dec_2013)
EnsemblG6PC - 17q21.31 [CytoView hg19]  G6PC - 17q21.31 [CytoView hg38]
Mapping of homologs : NCBIG6PC [Mapview hg19]  G6PC [Mapview hg38]
OMIM232200   613742   
Gene and transcription
Genbank (Entrez)AK303771 AK313982 AW614228 BC130478 BC136369
RefSeq transcript (Entrez)NM_000151 NM_001270397
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_011808 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)G6PC
Cluster EST : UnigeneHs.742566 [ NCBI ]
CGAP (NCI)Hs.742566
Alternative Splicing GalleryENSG00000131482
Gene ExpressionG6PC [ NCBI-GEO ]   G6PC [ EBI - ARRAY_EXPRESS ]   G6PC [ SEEK ]   G6PC [ MEM ]
Gene Expression Viewer (FireBrowse)G6PC [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2538
GTEX Portal (Tissue expression)G6PC
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35575   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35575  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35575
Splice isoforms : SwissVarP35575
Catalytic activity : Enzyme3.1.3.9 [ Enzyme-Expasy ]   3.1.3.93.1.3.9 [ IntEnz-EBI ]   3.1.3.9 [ BRENDA ]   3.1.3.9 [ KEGG ]   
PhosPhoSitePlusP35575
Domains : Interpro (EBI)Glucose-6-phosphatase    P_Acid_Pase_2/haloperoxidase   
Domain families : Pfam (Sanger)PAP2 (PF01569)   
Domain families : Pfam (NCBI)pfam01569   
Domain families : Smart (EMBL)acidPPc (SM00014)  
Conserved Domain (NCBI)G6PC
DMDM Disease mutations2538
Blocks (Seattle)G6PC
SuperfamilyP35575
Human Protein AtlasENSG00000131482
Peptide AtlasP35575
HPRD01983
IPIIPI00910642   IPI00019500   
Protein Interaction databases
DIP (DOE-UCLA)P35575
IntAct (EBI)P35575
FunCoupENSG00000131482
BioGRIDG6PC
STRING (EMBL)G6PC
ZODIACG6PC
Ontologies - Pathways
QuickGOP35575
Ontology : AmiGOglucose-6-phosphatase activity  glucose-6-phosphatase activity  endoplasmic reticulum membrane  glycogen metabolic process  glycogen catabolic process  gluconeogenesis  gluconeogenesis  triglyceride metabolic process  steroid metabolic process  regulation of gene expression  glucose transport  glucose-6-phosphate transport  integral component of membrane  phosphotransferase activity, alcohol group as acceptor  integral component of endoplasmic reticulum membrane  response to food  multicellular organism growth  phosphate ion binding  glucose homeostasis  cholesterol homeostasis  urate metabolic process  phosphorylated carbohydrate dephosphorylation  glucose 6-phosphate metabolic process  
Ontology : EGO-EBIglucose-6-phosphatase activity  glucose-6-phosphatase activity  endoplasmic reticulum membrane  glycogen metabolic process  glycogen catabolic process  gluconeogenesis  gluconeogenesis  triglyceride metabolic process  steroid metabolic process  regulation of gene expression  glucose transport  glucose-6-phosphate transport  integral component of membrane  phosphotransferase activity, alcohol group as acceptor  integral component of endoplasmic reticulum membrane  response to food  multicellular organism growth  phosphate ion binding  glucose homeostasis  cholesterol homeostasis  urate metabolic process  phosphorylated carbohydrate dephosphorylation  glucose 6-phosphate metabolic process  
Pathways : KEGGGlycolysis / Gluconeogenesis    Galactose metabolism    Starch and sucrose metabolism    FoxO signaling pathway    PI3K-Akt signaling pathway    Insulin signaling pathway    Adipocytokine signaling pathway    Carbohydrate digestion and absorption   
NDEx NetworkG6PC
Atlas of Cancer Signalling NetworkG6PC
Wikipedia pathwaysG6PC
Orthology - Evolution
OrthoDB2538
GeneTree (enSembl)ENSG00000131482
Phylogenetic Trees/Animal Genes : TreeFamG6PC
HOVERGENP35575
HOGENOMP35575
Homologs : HomoloGeneG6PC
Homology/Alignments : Family Browser (UCSC)G6PC
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerG6PC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)G6PC
dbVarG6PC
ClinVarG6PC
1000_GenomesG6PC 
Exome Variant ServerG6PC
ExAC (Exome Aggregation Consortium)G6PC (select the gene name)
Genetic variants : HAPMAP2538
Genomic Variants (DGV)G6PC [DGVbeta]
DECIPHER (Syndromes)17:41052814-41066450  ENSG00000131482
CONAN: Copy Number AnalysisG6PC 
Mutations
ICGC Data PortalG6PC 
TCGA Data PortalG6PC 
Broad Tumor PortalG6PC
OASIS PortalG6PC [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICG6PC  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDG6PC
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch G6PC
DgiDB (Drug Gene Interaction Database)G6PC
DoCM (Curated mutations)G6PC (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)G6PC (select a term)
intoGenG6PC
Cancer3DG6PC(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM232200    613742   
Orphanet11284   
MedgenG6PC
Genetic Testing Registry G6PC
NextProtP35575 [Medical]
TSGene2538
GENETestsG6PC
Huge Navigator G6PC [HugePedia]
snp3D : Map Gene to Disease2538
BioCentury BCIQG6PC
ClinGenG6PC
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2538
Chemical/Pharm GKB GenePA28468
Clinical trialG6PC
Miscellaneous
canSAR (ICR)G6PC (select the gene name)
Probes
Litterature
PubMed70 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineG6PC
EVEXG6PC
GoPubMedG6PC
iHOPG6PC
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:37:58 CET 2016

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.