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Aliases for G6PC Gene

Aliases for G6PC Gene

  • Glucose-6-Phosphatase Catalytic Subunit 2 3 5
  • Glucose-6-Phosphatase Alpha 3 4
  • G6Pase-Alpha 3 4
  • EC 4 58
  • G-6-Pase 3 4
  • G6Pase 3 4
  • G6PT 3 4
  • Glucose-6-Phosphatase, Catalytic (Glycogen Storage Disease Type I, Von Gierke Disease) 2
  • Glycogen Storage Disease Type I, Von Gierke Disease 2
  • Glucose-6-Phosphatase 3
  • G6PC1 3
  • GSD1a 3
  • GSD1 3

External Ids for G6PC Gene

Previous HGNC Symbols for G6PC Gene

  • G6PT

Previous GeneCards Identifiers for G6PC Gene

  • GC17M040566
  • GC17P043214
  • GC17P040961
  • GC17P041425
  • GC17P038306
  • GC17P041052
  • GC17P036817

Summaries for G6PC Gene

Entrez Gene Summary for G6PC Gene

  • Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011]

GeneCards Summary for G6PC Gene

G6PC (Glucose-6-Phosphatase Catalytic Subunit) is a Protein Coding gene. Diseases associated with G6PC include Glycogen Storage Disease Ia and Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency. Among its related pathways are Metabolism and Glucagon signaling pathway. GO annotations related to this gene include phosphotransferase activity, alcohol group as acceptor and glucose-6-phosphatase activity. An important paralog of this gene is G6PC2.

UniProtKB/Swiss-Prot for G6PC Gene

  • Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels.

Gene Wiki entry for G6PC Gene

Additional gene information for G6PC Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for G6PC Gene

Genomics for G6PC Gene

Regulatory Elements for G6PC Gene

Enhancers for G6PC Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H042928 1.3 Ensembl ENCODE 13.3 +28.3 28271 1.8 HDGF ATF1 FOXA2 ARNT ZFP64 ARID4B DMAP1 YY1 SLC30A9 GATA2 G6PC LINC00671 RNU6-287P AOC3 AOC2 CNTD1 COA3 VPS25 RAMP2-AS1 HMGN2P15
GH17H042878 0.8 ENCODE 13.2 -22.5 -22459 0.2 SOX13 DRAP1 MXI1 SAP130 MLX MAX ZNF384 RAD21 THRB RARA G6PC LINC00671 AOC3 AOC2 AOC4P RNU6-287P
GH17H042900 1 ENCODE 0.7 0.0 -1 1.2 FOXA2 ATF1 MLX YY1 ZNF121 PAF1 SP5 MXD4 REST PPARG G6PC GC17M042880
GH17H042918 1 ENCODE 0.4 +19.4 19366 2.9 FOXA2 MLX ZFP64 ARID4B SLC30A9 MXD4 PPARG KAT8 NFIL3 MIER3 MLX BECN1 RNY4P2 GC17M042933 G6PC
GH17H042901 0.5 ENCODE 0.7 +1.1 1099 0.8 PAF1 CEBPA REST NAGLU G6PC RNY4P2 GC17M042933
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around G6PC on UCSC Golden Path with GeneCards custom track

Genomic Locations for G6PC Gene

Genomic Locations for G6PC Gene
13,637 bases
Plus strand

Genomic View for G6PC Gene

Genes around G6PC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
G6PC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for G6PC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for G6PC Gene

Proteins for G6PC Gene

  • Protein details for G6PC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A1L4C0
    • B4E1C3
    • K7EL82

    Protein attributes for G6PC Gene

    357 amino acids
    Molecular mass:
    40484 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAG64735.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for G6PC Gene


neXtProt entry for G6PC Gene

Selected DME Specific Peptides for G6PC Gene


Post-translational modifications for G6PC Gene

  • Glycosylation at isoforms=296
  • Modification sites at PhosphoSitePlus

Other Protein References for G6PC Gene

Domains & Families for G6PC Gene

Gene Families for G6PC Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for G6PC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glucose-6-phosphatase family.
  • Belongs to the glucose-6-phosphatase family.
genes like me logo Genes that share domains with G6PC: view

Function for G6PC Gene

Molecular function for G6PC Gene

GENATLAS Biochemistry:
glucose-6-phosphatase,catalytic gluconeogenesis,energy pathway
UniProtKB/Swiss-Prot CatalyticActivity:
D-glucose 6-phosphate + H(2)O = D-glucose + phosphate.
UniProtKB/Swiss-Prot Function:
Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels.

Enzyme Numbers (IUBMB) for G6PC Gene

Gene Ontology (GO) - Molecular Function for G6PC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004346 glucose-6-phosphatase activity IDA 8211187
GO:0016773 phosphotransferase activity, alcohol group as acceptor IEA --
GO:0016787 hydrolase activity IEA --
GO:0042301 phosphate ion binding IMP 12093795
genes like me logo Genes that share ontologies with G6PC: view
genes like me logo Genes that share phenotypes with G6PC: view

Human Phenotype Ontology for G6PC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for G6PC Gene

MGI Knock Outs for G6PC:

miRNA for G6PC Gene

miRTarBase miRNAs that target G6PC

Clone Products

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for G6PC Gene

Localization for G6PC Gene

Subcellular locations from UniProtKB/Swiss-Prot for G6PC Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

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 G6PC gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
mitochondrion 2
peroxisome 2
nucleus 2
cytosol 2
lysosome 2
golgi apparatus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for G6PC 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 IDA,IEA 10318794
GO:0030176 integral component of endoplasmic reticulum membrane TAS 10318794
genes like me logo Genes that share ontologies with G6PC: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for G6PC Gene

Pathways & Interactions for G6PC Gene

genes like me logo Genes that share pathways with G6PC: view

UniProtKB/Swiss-Prot P35575-G6PC_HUMAN

  • Pathway: Carbohydrate biosynthesis; gluconeogenesis.

SIGNOR curated interactions for G6PC Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for G6PC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005977 glycogen metabolic process IEA,TAS 8211187
GO:0005980 glycogen catabolic process IEA --
GO:0006094 gluconeogenesis TAS --
GO:0006641 triglyceride metabolic process IEA --
GO:0006796 phosphate-containing compound metabolic process IEA --
genes like me logo Genes that share ontologies with G6PC: view

Drugs & Compounds for G6PC Gene

(46) Drugs for G6PC Gene - From: HMDB and Novoseek

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

(38) Additional Compounds for G6PC Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • a-D-Glucopyranose
  • a-D-Glucose
  • a-Dextrose
  • a-Glucose
  • alpha-D-Glucopyranose
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
genes like me logo Genes that share compounds with G6PC: view

Transcripts for G6PC Gene

Unigene Clusters for G6PC Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for G6PC Gene

No ASD Table

Relevant External Links for G6PC Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for G6PC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for G6PC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for G6PC Gene

This gene is overexpressed in Liver (x47.6) and Kidney - Cortex (x4.2).

Protein differential expression in normal tissues from HIPED for G6PC Gene

This gene is overexpressed in Liver (45.5) and Gallbladder (18.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for G6PC Gene

Protein tissue co-expression partners for G6PC Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of G6PC Gene:


SOURCE GeneReport for Unigene cluster for G6PC Gene:


Evidence on tissue expression from TISSUES for G6PC Gene

  • Liver(4.8)
  • Kidney(3.5)
  • Intestine(2.4)
  • Blood(2.2)
  • Muscle(2.2)
  • Pancreas(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for G6PC Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • adrenal gland
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • uterus
  • vagina
  • vas deferens
  • vulva
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with G6PC: view

No data available for mRNA Expression by UniProt/SwissProt for G6PC Gene

Orthologs for G6PC Gene

This gene was present in the common ancestor of animals.

Orthologs for G6PC Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia G6PC 33 34
  • 98.26 (n)
(Canis familiaris)
Mammalia G6PC 33 34
  • 89.54 (n)
(Bos Taurus)
Mammalia G6PC 33 34
  • 88.89 (n)
(Mus musculus)
Mammalia G6pc 33 16 34
  • 84.87 (n)
(Rattus norvegicus)
Mammalia G6pc 33
  • 84.31 (n)
(Gallus gallus)
Aves LOC100857298 33
  • 71.52 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 66 (a)
-- 34
  • 58 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia g6pc2 33
  • 69.19 (n)
(Danio rerio)
Actinopterygii g6pca.2 33 34
  • 66.57 (n)
g6pca.1 34
  • 54 (a)
g6pcb 34
  • 53 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG15400 34
  • 19 (a)
Species where no ortholog for G6PC 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for G6PC Gene

Gene Tree for G6PC (if available)
Gene Tree for G6PC (if available)

Paralogs for G6PC Gene

Paralogs for G6PC Gene

(2) SIMAP similar genes for G6PC Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with G6PC: view

Variants for G6PC Gene

Sequence variations from dbSNP and Humsavar for G6PC Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs104894563 Likely pathogenic, Glycogen storage disease 1A (GSD1A) [MIM:232200] 42,911,235(+) CATTC(C/T)GCCTC reference, missense, utr-variant-3-prime
rs104894565 Pathogenic, Glycogen storage disease 1A (GSD1A) [MIM:232200] 42,900,989(+) CGCAG(A/T)CCTCA reference, missense
rs104894566 other, Glycogen storage disease 1A (GSD1A) [MIM:232200] 42,901,105(+) TTAAG(C/T)GGTAA reference, missense
rs104894567 Pathogenic, Glycogen storage disease 1A (GSD1A) [MIM:232200] 42,904,028(+) CCTGT(A/G)AGACT reference, missense
rs104894568 Pathogenic, Glycogen storage disease 1A (GSD1A) [MIM:232200] 42,907,552(+) GCACA(A/G)CAGGT intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for G6PC Gene

Variant ID Type Subtype PubMed ID
nsv575052 CNV loss 21841781
nsv483009 CNV gain 15286789
nsv457742 CNV loss 19166990
nsv1146669 OTHER inversion 26484159
esv33998 OTHER inversion 15654335
esv2763170 CNV loss 21179565

Variation tolerance for G6PC Gene

Residual Variation Intolerance Score: 48.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.65; 13.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for G6PC Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for G6PC Gene

Disorders for G6PC Gene

MalaCards: The human disease database

(25) MalaCards diseases for G6PC Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease ia
  • glycogen storage disease i
glycogen storage disease due to glucose-6-phosphatase deficiency
  • glycogen storage disease type i
glycogen storage disease
  • glycogenoses
  • hypoglycaemia
  • uricacidemia
- elite association - COSMIC cancer census association via MalaCards
Search G6PC in MalaCards View complete list of genes associated with diseases


  • Glycogen storage disease 1A (GSD1A) [MIM:232200]: A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. {ECO:0000269 PubMed:10070617, ECO:0000269 PubMed:10094563, ECO:0000269 PubMed:10447271, ECO:0000269 PubMed:10612834, ECO:0000269 PubMed:10738005, ECO:0000269 PubMed:10748407, ECO:0000269 PubMed:10874313, ECO:0000269 PubMed:10960498, ECO:0000269 PubMed:11058903, ECO:0000269 PubMed:11058910, ECO:0000269 PubMed:12373566, ECO:0000269 PubMed:15151508, ECO:0000269 PubMed:15316959, ECO:0000269 PubMed:15542400, ECO:0000269 PubMed:7573034, ECO:0000269 PubMed:7623438, ECO:0000269 PubMed:7655466, ECO:0000269 PubMed:8182131, ECO:0000269 PubMed:8733042, ECO:0000269 PubMed:9001800, ECO:0000269 PubMed:9332655, ECO:0000269 PubMed:9506659, ECO:0000269 PubMed:9700612, ECO:0000269 PubMed:9700613}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for G6PC

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with G6PC: view

No data available for Genatlas for G6PC Gene

Publications for G6PC Gene

  1. Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. (PMID: 15316959) Ekstein J … Risch N (American journal of medical genetics. Part A 2004) 3 4 45 60
  2. The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis. (PMID: 12093795) Ghosh A … Chou JY (The Journal of biological chemistry 2002) 3 4 22 60
  3. Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. (PMID: 12373566) Matern D … Chen YT (European journal of pediatrics 2002) 3 4 22 60
  4. Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells. (PMID: 10748407) Akanuma J … Narisawa K (American journal of medical genetics 2000) 3 4 22 60
  5. Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype. (PMID: 10960498) Weston BW … Chen YT (Pediatric research 2000) 3 4 22 60

Products for G6PC Gene

Sources for G6PC Gene

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