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Aliases for G6PC2 Gene

Aliases for G6PC2 Gene

  • Glucose-6-Phosphatase Catalytic Subunit 2 2 3 5
  • Islet-Specific Glucose-6-Phosphatase Catalytic Subunit-Related Protein 3 4
  • Glucose-6-Phosphatase, Catalytic, 2 2 3
  • Glucose-6-Phosphatase 2 3 4
  • G-6-Pase 2 3 4
  • EC 3.1.3.9 4 56
  • G6Pase 2 3 4
  • IGRP 3 4
  • Islet Specific Glucose 6 Phosphatase Catalytic Subunit Related Protein 2
  • Islet-Specific Glucose-6-Phosphatase-Related Protein 3
  • Islet-Specific G6CP-Related Protein 3

External Ids for G6PC2 Gene

Previous GeneCards Identifiers for G6PC2 Gene

  • GC02P169961
  • GC02P169583
  • GC02P169466
  • GC02P169757
  • GC02P161653

Summaries for G6PC2 Gene

Entrez Gene Summary for G6PC2 Gene

  • This gene encodes an enzyme belonging to the glucose-6-phosphatase catalytic subunit family. These enzymes are part of a multicomponent integral membrane system that catalyzes the hydrolysis of glucose-6-phosphate, the terminal step in gluconeogenic and glycogenolytic pathways, allowing the release of glucose into the bloodstream. The family member encoded by this gene is found in pancreatic islets and does not exhibit phosphohydrolase activity, but it is a major target of cell-mediated autoimmunity in diabetes. Several alternatively spliced transcript variants of this gene have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for G6PC2 Gene

G6PC2 (Glucose-6-Phosphatase Catalytic Subunit 2) is a Protein Coding gene. Diseases associated with G6PC2 include Fasting Plasma Glucose Level Quantitative Trait Locus 1 and Amelogenesis Imperfecta, Type Iv. Among its related pathways are Amino Acid metabolism and Regulation of lipid metabolism Insulin signaling-generic cascades. Gene Ontology (GO) annotations related to this gene include glucose-6-phosphatase activity. An important paralog of this gene is G6PC.

UniProtKB/Swiss-Prot for G6PC2 Gene

  • May hydrolyze glucose-6-phosphate to glucose in the endoplasmic reticulum. May be responsible for glucose production through glycogenolysis and gluconeogenesis (By similarity).

Gene Wiki entry for G6PC2 Gene

Additional gene information for G6PC2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for G6PC2 Gene

Genomics for G6PC2 Gene

GeneHancer (GH) Regulatory Elements for G6PC2 Gene

Promoters and enhancers for G6PC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J168901 Promoter 0.5 EPDnew 600.7 +0.0 32 0.1 G6PC2 SPC25
GH02J168907 Enhancer 0.9 Ensembl ENCODE 13.2 +6.5 6461 2.2 SMARCA4 IKZF1 ZIC2 HDAC1 EP300 TCF12 CTBP1 FOXK2 NCOR1 BCOR G6PC2 SPC25
GH02J168764 Enhancer 0.7 Ensembl ENCODE 15.7 -135.3 -135283 2.1 POLR2A HOMEZ FOS HLF G6PC2 NOSTRIN CERS6-AS1 RNU6-766P CERS6
GH02J168849 Enhancer 0.7 ENCODE 11.7 -51.5 -51474 0.2 CTCF NFIB MAFK ZNF384 RXRA REST SP1 ZNF316 MAFG TEAD1 G6PC2 GC02P168847 NOSTRIN SPC25
GH02J168935 Promoter/Enhancer 1.5 Ensembl ENCODE 5.4 +35.2 35178 1.5 CC2D1A ZKSCAN8 CBFA2T2 ZNF148 MLLT1 GTF2F1 BACH1 TRIM24 EGR1 ZNF639 SPC25 G6PC2 NOSTRIN ABCB11
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around G6PC2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the G6PC2 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • CP1A
  • CP1C
  • NF-Y
  • NF-YA
  • NF-YB
  • NF-YC

Genomic Locations for G6PC2 Gene

Genomic Locations for G6PC2 Gene
chr2:168,901,240-168,910,000
(GRCh38/hg38)
Size:
8,761 bases
Orientation:
Plus strand
chr2:169,757,750-169,766,510
(GRCh37/hg19)
Size:
8,761 bases
Orientation:
Plus strand

Genomic View for G6PC2 Gene

Genes around G6PC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
G6PC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for G6PC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for G6PC2 Gene

Proteins for G6PC2 Gene

  • Protein details for G6PC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQR9-G6PC2_HUMAN
    Recommended name:
    Glucose-6-phosphatase 2
    Protein Accession:
    Q9NQR9
    Secondary Accessions:
    • E9PAX2
    • Q6AHZ0

    Protein attributes for G6PC2 Gene

    Size:
    355 amino acids
    Molecular mass:
    40580 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for G6PC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for G6PC2 Gene

Selected DME Specific Peptides for G6PC2 Gene

Q9NQR9:
  • LSFCKSA
  • TCETGPGSPSGHAMG
  • WVAVIGDW
  • FKWILFG

Post-translational modifications for G6PC2 Gene

  • N-glycosylated; the non-glycosylated form is more unstable and is degraded through the proteasome.
  • Glycosylation at posLast=9292
  • Modification sites at PhosphoSitePlus

Other Protein References for G6PC2 Gene

Domains & Families for G6PC2 Gene

Gene Families for G6PC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for G6PC2 Gene

GenScript: Design optimal peptide antigens:
  • Islet-specific glucose-6-phosphatase catalytic subunit-related protein (G6PC2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NQR9

UniProtKB/Swiss-Prot:

G6PC2_HUMAN :
  • Belongs to the glucose-6-phosphatase family.
Family:
  • Belongs to the glucose-6-phosphatase family.
genes like me logo Genes that share domains with G6PC2: view

Function for G6PC2 Gene

Molecular function for G6PC2 Gene

UniProtKB/Swiss-Prot Function:
May hydrolyze glucose-6-phosphate to glucose in the endoplasmic reticulum. May be responsible for glucose production through glycogenolysis and gluconeogenesis (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=D-glucose 6-phosphate + H2O = D-glucose + phosphate; Xref=Rhea:RHEA:16689, ChEBI:CHEBI:4167, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:61548; EC=3.1.3.9; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.45 mM for glucose-6-phosphate (at pH 6.5);

Enzyme Numbers (IUBMB) for G6PC2 Gene

Phenotypes From GWAS Catalog for G6PC2 Gene

Gene Ontology (GO) - Molecular Function for G6PC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004346 glucose-6-phosphatase activity IBA 21873635
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with G6PC2: view
genes like me logo Genes that share phenotypes with G6PC2: view

Animal Models for G6PC2 Gene

MGI Knock Outs for G6PC2:

Animal Model Products

CRISPR Products

miRNA for G6PC2 Gene

miRTarBase miRNAs that target G6PC2

Clone Products

  • Applied Biological Materials (abm): Clones for G6PC2 - Now 50% OFF >
  • * G6PC2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * G6PC2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for G6PC2 Gene

Localization for G6PC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for G6PC2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for G6PC2 gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3
cytosol 1

Gene Ontology (GO) - Cellular Components for G6PC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with G6PC2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for G6PC2 Gene

Pathways & Interactions for G6PC2 Gene

genes like me logo Genes that share pathways with G6PC2: view

UniProtKB/Swiss-Prot Q9NQR9-G6PC2_HUMAN

  • Pathway: Carbohydrate biosynthesis; gluconeogenesis.

Interacting Proteins for G6PC2 Gene

Gene Ontology (GO) - Biological Process for G6PC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006094 gluconeogenesis TAS --
GO:0016311 dephosphorylation IEA --
GO:0042593 glucose homeostasis IMP 20668700
GO:0050796 regulation of insulin secretion IMP 20668700
GO:0051156 glucose 6-phosphate metabolic process IBA 21873635
genes like me logo Genes that share ontologies with G6PC2: view

No data available for SIGNOR curated interactions for G6PC2 Gene

Drugs & Compounds for G6PC2 Gene

(4) Drugs for G6PC2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-glucose Approved, Investigational, Vet_approved Pharma 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Glucose 6-phosphate Experimental Pharma 0

(3) Additional Compounds for G6PC2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Alpha-D-Glucose
  • alpha-D-GLC
  • alpha-Dextrose
  • a-D-GLC
  • α-D-GLC
  • a-D-Glucose
492-62-6
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with G6PC2: view

Transcripts for G6PC2 Gene

mRNA/cDNA for G6PC2 Gene

Unigene Clusters for G6PC2 Gene

Glucose-6-phosphatase, catalytic, 2:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for G6PC2 - Now 50% OFF >
  • * G6PC2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * G6PC2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for G6PC2 Gene

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

Relevant External Links for G6PC2 Gene

GeneLoc Exon Structure for
G6PC2
ECgene alternative splicing isoforms for
G6PC2

Expression for G6PC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for G6PC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for G6PC2 Gene

This gene is overexpressed in Pancreas (x44.3).

NURSA nuclear receptor signaling pathways regulating expression of G6PC2 Gene:

G6PC2

SOURCE GeneReport for Unigene cluster for G6PC2 Gene:

Hs.283963

mRNA Expression by UniProt/SwissProt for G6PC2 Gene:

Q9NQR9-G6PC2_HUMAN
Tissue specificity: Specifically expressed in pancreas and also detected to a lower extent in testis. Expressed by most islet cells in the pancreas (at protein level).

Evidence on tissue expression from TISSUES for G6PC2 Gene

  • Pancreas(4.8)
  • Eye(4)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with G6PC2: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for G6PC2 Gene

Orthologs for G6PC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for G6PC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia G6PC2 35 34
  • 99.15 (n)
OneToOne
dog
(Canis familiaris)
Mammalia G6PC2 35 34
  • 90.75 (n)
OneToOne
cow
(Bos Taurus)
Mammalia G6PC2 35 34
  • 89.14 (n)
OneToOne
mouse
(Mus musculus)
Mammalia G6pc2 17 35 34
  • 84.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia G6PC2 35
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC681817 34
  • 77.47 (n)
chicken
(Gallus gallus)
Aves G6PC2 35 34
  • 75.26 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia G6PC2 35
  • 72 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG15400 35
  • 23 (a)
OneToMany
Species where no ortholog for G6PC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for G6PC2 Gene

ENSEMBL:
Gene Tree for G6PC2 (if available)
TreeFam:
Gene Tree for G6PC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for G6PC2: view image

Paralogs for G6PC2 Gene

Paralogs for G6PC2 Gene

(2) SIMAP similar genes for G6PC2 Gene using alignment to 2 proteins:

  • G6PC2_HUMAN
  • C9IYU7_HUMAN
genes like me logo Genes that share paralogs with G6PC2: view

Variants for G6PC2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for G6PC2 Gene

G6PC2_HUMAN-Q9NQR9
Genetic variations in G6PC2 define the fasting plasma glucose levels quantitative trait locus 1 (FGQTL1) [MIM:612108]. The normal fasting plasma glucose level in the plasma is defined as less than 100 mg per deciliter (5.55 mmol per liter). Higher fasting plasma glucose levels predict type 2 diabetes in young adults and increases the risk of mortality.

Sequence variations from dbSNP and Humsavar for G6PC2 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs146779637 uncertain-significance, Fasting plasma glucose level quantitative trait locus 1 168,907,858(+) C/T 3_prime_UTR_variant, coding_sequence_variant, stop_gained
rs1000177745 -- 168,903,618(+) G/C intron_variant
rs1000613134 -- 168,903,835(+) G/T intron_variant
rs1001309528 -- 168,900,177(+) A/G upstream_transcript_variant
rs1001384850 -- 168,903,597(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for G6PC2 Gene

Variant ID Type Subtype PubMed ID
nsv459943 CNV loss 19166990
nsv479788 CNV novel sequence insertion 20440878
nsv583599 CNV gain 21841781
nsv583600 CNV loss 21841781

Variation tolerance for G6PC2 Gene

Residual Variation Intolerance Score: 87.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.42; 95.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for G6PC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
G6PC2
Human Gene Mutation Database (HGMD)
G6PC2

SNP Genotyping and Copy Number Assay Products

Disorders for G6PC2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for G6PC2 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search G6PC2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for G6PC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with G6PC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for G6PC2 Gene

Publications for G6PC2 Gene

  1. A polymorphism within the G6PC2 gene is associated with fasting plasma glucose levels. (PMID: 18451265) Bouatia-Naji N … Froguel P (Science (New York, N.Y.) 2008) 3 4 23 45 58
  2. A single-nucleotide polymorphism in a methylatable Foxa2 binding site of the G6PC2 promoter is associated with insulin secretion in vivo and increased promoter activity in vitro. (PMID: 18984742) Dos Santos C … Fradin D (Diabetes 2009) 3 23 45 58
  3. Combined effects of single-nucleotide polymorphisms in GCK, GCKR, G6PC2 and MTNR1B on fasting plasma glucose and type 2 diabetes risk. (PMID: 19533084) Reiling E … 't Hart LM (Diabetologia 2009) 3 23 45 58
  4. Additive effects of genetic variation in GCK and G6PC2 on insulin secretion and fasting glucose. (PMID: 19741163) Li X … Watanabe RM (Diabetes 2009) 3 23 45 58
  5. Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels. (PMID: 18521185) Chen WM … Watanabe RM (The Journal of clinical investigation 2008) 3 23 45 58

Products for G6PC2 Gene

Sources for G6PC2 Gene

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