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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

G6PC Gene

protein-coding GIFtS: 66
GCID: GC17P041052

glucose-6-phosphatase, catalytic subunit

(Previous names: glucose-6-phosphatase, catalytic (glycogen storage disease...)
(Previous symbol: G6PT)

Explore 55 diseases affiliated with
G6PC via

MalaCards

our new
Human Malady Compendium

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

Aliases
Glucose-6-Phosphatase, Catalytic Subunit¹ ²		G6Pase-Alpha¹
G6PT¹ ² ³		EC 3.1.3.9³ ⁸
GSD1a¹ ²		Glucose-6-Phosphatase, Catalytic (Glycogen Storage Disease Type I, Von Gierke Disease)¹
Glucose-6-Phosphatase Alpha² ³		G6PC1²
G-6-Pase² ³		GSD1²
G6Pase² ³		Glucose-6-Phosphatase¹

External Ids:	HGNC: 4056¹	Entrez Gene: 2538²	Ensembl: ENSG00000131482⁷	OMIM: 613742⁵	UniProtKB: P35575³

Export aliases for G6PC gene to outside databases

Previous GC identifers: GC17M040566 GC17P043214 GC17P040961 GC17P041425 GC17P038306 GC17P036817

(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 G6PC:

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)

UniProtKB/Swiss-Prot: G6PC_HUMAN, P35575

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

Gene Wiki entry for G6PC

(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 G6PC gene promoter:
PPAR-gamma1 HNF-4alpha2 PPAR-gamma2 HNF-4alpha1 C/EBPalpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): G6PC promoter sequence

Search SABiosciences Chromatin IP Primers for G6PC

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat G6PC

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

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

G6PC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
G6PC gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P041052: view genomic region (about GC identifiers)

Start:	41,052,814 bp from pter	End:	41,065,386 bp from pter
Size:	12,573 bases	Orientation:	plus strand

(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: G6PC_HUMAN, P35575 (See protein sequence)

Recommended Name: Glucose-6-phosphatase

Size: 357 amino acids; 40484 Da

Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein

Secondary accessions: A1L4C0

Explore the universe of human proteins at neXtProt for G6PC: NX_P35575

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P35575

4/15 DME Specific Peptides for G6PC (P35575) (see all 15)

DTDYYSN

LSFCKSA

FKWILFG

AHFPHQV

G6PC Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000142.2 NP_001257326.1

ENSEMBL proteins:

ENSP00000465958 ENSP00000253801 ENSP00000466202

Reactome Protein details: P35575
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	Uscn Proteins for G6PC

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005783	endoplasmic reticulum	--	--
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0005792	microsome	--	--
GO:0016021	integral to membrane	IDA	10318794
GO:0030176	integral to endoplasmic reticulum membrane	TAS	10318794

G6PC for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for G6PC

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

G6PC 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 P35575

ProtoNet protein and cluster: P35575

1 Blocks protein family: IPB000326 PA-phosphatase related phosphoesterase

UniProtKB/Swiss-Prot: G6PC_HUMAN, P35575

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: G6PC_HUMAN, P35575

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

Catalytic activity: D-glucose 6-phosphate + H(2)O = D-glucose + phosphate

Genatlas biochemistry entry for G6PC:

glucose-6-phosphatase,catalytic gluconeogenesis,energy pathway

Enzyme Number (IUBMB): EC 3.1.3.9¹ ²

miRNA Products:		OriGene 3'-UTR Clone: G6PC Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat G6PC
		8/35 QIAGEN miScript miRNA Assays for microRNAs that regulate G6PC (see all 35):
		hsa-miR-548j hsa-miR-607 hsa-miR-429 hsa-miR-29a hsa-miR-3916 hsa-miR-548d-5p hsa-miR-548a-5p hsa-miR-200b

		SwitchGear 3'UTR luciferase reporter plasmid: G6PC 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for G6PC

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for G6PC

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004346	glucose-6-phosphatase activity	IDA	15661744
GO:0016773	phosphotransferase activity, alcohol group as acceptor	IEA	--
GO:0042301	phosphate ion binding	IMP	12093795

G6PC for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for G6PC:

Apoptosis resistance

Increased Erk phosphorylation

Animal Models:
Mouse knock-outs for G6PC: G6pc^tm1Jyc G6pc^tm2.2Jyc
9 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for G6pc):

behavior/neurological	growth/size	homeostasis/metabolism	liver/biliary system	mortality/aging
nervous system	normal	renal/urinary system	skeleton

G6PC 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 - 5/14 super-pathways (see all 14) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Glycolysis and gluconeogenesis (short map)

	Glycolysis and gluconeogenesis (short map)	1.00			Glycolysis and Gluconeogenesis	0.60
	Glycolysis and gluconeogenesis (short map)	0.97			Glycolysis / Gluconeogenesis	0.41

Galactose metabolism

	Galactose metabolism	1.00			Galactose metabolism	0.47
	Galactose metabolism	0.95

SLC-mediated transmembrane transport

SLC-mediated transmembrane transport

1.00

Transmembrane transport of small molecules

0.50

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Translocation of Influenza A virus nonstructural protein 1 (NS1A) into the nucleus

Glucose transport

0.57

Hexose transport

0.55

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for G6PC

	Glycolysis and gluconeogenesis (short map)
	Galactose metabolism

2 GeneGo (Thomson Reuters) Pathways for G6PC

	Galactose metabolism
	Glycolysis and gluconeogenesis (short map)

5 BioSystems Pathways for G6PC

	DNA damage response (only ATM dependent)
	SIDS Susceptibility Pathways
	Glycolysis and Gluconeogenesis
	FOXA2 and FOXA3 transcription factor networks
	FoxO family signaling

5/6 Reactome Pathways for G6PC (see all 6)

	Metabolism of carbohydrates
	SLC-mediated transmembrane transport
	Transmembrane transport of small molecules
	Hexose transport
	Metabolism

5/7 Kegg Pathways (Kegg details for G6PC) (see all 7):

	Glycolysis / Gluconeogenesis
	Galactose metabolism
	Starch and sucrose metabolism
	Metabolic pathways
	Insulin signaling pathway

UniProtKB/Swiss-Prot: G6PC_HUMAN, P35575

Pathway: Carbohydrate biosynthesis; gluconeogenesis

G6PC for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for G6PC

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/32 Interacting proteins for G6PC (P35575³ ENSP00000253801⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 32)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FOXO1	Q12778³, ENSP00000368880⁴	I2D: score=1 STRING: ENSP00000368880
CEBPB	ENSP00000305422⁴	STRING: ENSP00000305422
CREB1	ENSP00000387699⁴	STRING: ENSP00000387699
FOXA3	ENSP00000304004⁴	STRING: ENSP00000304004
GPI	ENSP00000348877⁴	STRING: ENSP00000348877

About this table

Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	TAS	--
GO:0005977	glycogen metabolic process	TAS	8211187
GO:0005980	glycogen catabolic process	IEA	--
GO:0006094	gluconeogenesis	IMP	8211187
GO:0006641	triglyceride metabolic process	IEA	--

G6PC 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

G6PC for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Enzo Life Sciences drugs & compounds for G6PC

Browse Tocris compounds for G6PC

5 HMDB Compounds for G6PC About this table

Compound	Synonyms	CAS #	PubMed Ids
Alpha-D-Glucose	Hexopyranose (see all 11)	492-62-6	--
D-Glucose	(+)-Glucose (see all 23)	50-99-7	--
Glucose 6-phosphate	D(+)-Glucopyranose 6-phosphate (see all 11)	56-73-5	--
Phosphate	NFB Orthophosphate (see all 13)	14265-44-2	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

10/79 Novoseek chemical compound relationships for G6PC gene (see all 79) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glucose 6-phosphate	89	196	18337460 (5), 11899241 (4), 10940311 (3), 11949931 (3) (see all 93)
glycogen	87.9	193	10643970 (4), 7744838 (3), 11739393 (2), 9001800 (2) (see all 99)
phosphoenolpyruvate	81.3	62	15047713 (2), 17211624 (2), 12570714 (1), 12914928 (1) (see all 46)
glucose	74.2	591	8574017 (6), 10960473 (6), 2168325 (5), 9270716 (5) (see all 99)
2-deoxy-d-glucose 6-phosphate	70	1	8772513 (1)
pyrophosphate	62.4	9	8605568 (1), 11386847 (1), 8385243 (1), 1311177 (1) (see all 6)
fructose-6-phosphate	57.2	1	7733279 (1)
mannose 6-phosphate	55.7	10	8611029 (2), 7646448 (1), 16452245 (1), 1846754 (1) (see all 6)
acadesine	47.6	2	10866040 (1), 11359348 (1)
pyruvate	46.2	15	17160355 (2), 1434530 (2), 15190939 (2), 12570714 (1) (see all 12)

Search CenterWatch for drugs/clinical trials and news about G6PC

(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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for G6PC gene (2 alternative transcripts):

NM_000151.3 NM_001270397.1

Unigene Clusters for G6PC:

Glucose-6-phosphatase, catalytic subunit

Hs.212293 [show with all ESTs], Hs.742566

Unigene Representative Sequences: NM_000151, AK303771

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000592383 ENST00000253801(uc002icb.1 uc010whf.1) ENST00000585489

ENST00000588481

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		hsa-miR-548j hsa-miR-607 hsa-miR-429 hsa-miR-29a hsa-miR-3916 hsa-miR-548d-5p hsa-miR-548a-5p hsa-miR-200b

		SwitchGear 3'UTR luciferase reporter plasmid: G6PC 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat G6PC

Additional cDNA sequence: AK303771.1

4 DOTS entries:

DT.110428 DT.97859344 DT.216113 DT.91651868

24 AceView cDNA sequences:

NM_000151 AW304142 AV656553 BX110477 U01120 AA862953 H77746 AI672173

BX496236 BG569143 AV694195 CB162421 AW614228 BX496198 R02471 BX495293

AV686772 AW611950 AV697108 AV684739 AW337736 AI245594 R02365 AI244022

GeneLoc Exon Structure

(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

G6PC expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

G6PC expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Liver

Liver Lobule

Mature Hepatocytes

Selective marker (cell-identifying gene)

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See G6PC Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for G6PC

SOURCE GeneReport for Unigene clusters: Hs.212293 Hs.742566

SABiosciences Expression via Pathway-Focused PCR Arrays including G6PC (see all 7):

Nephrotoxicity in human mouse rat

Insulin Signaling Pathway in human mouse rat

Cell Lineage Identification in human mouse rat

Terminal Differentiation Markers in human mouse rat

Fatty Liver in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for G6PC

(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 G6PC gene from 5/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LOC100857298¹	glucose-6-phosphatase-like	71.62(n) 70.59(a)		100857298 XM_003642817.1 XP_003642865.1
lizard (Anolis carolinensis)	Reptilia	G6PC⁶	--	70(a)	1 ↔ 1	6(62426618-62435573)
African clawed frog (Xenopus laevis)	Amphibia	BC054228.1²	--	74.76(n)		BC054228.1
zebrafish (Danio rerio)	Actinopterygii	g6pca.2¹	glucose-6-phosphatase a, catalytic, tandem duplicate more	66.67(n) 64.41(a)		563180 NM_001163806.1 NP_001157278.1
fruit fly (Drosophila melanogaster)	Insecta	CG15400¹	CG15400	40(n) 24.92(a)		33476 NM_001103593.2 NP_001097063.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for G6PC gene

G6PC3² G6PC2²

2 SIMAP similar genes for G6PC using alignment to 3 protein entries: G6PC_HUMAN (see all proteins):

G6PC2 G6PC3

G6PC 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

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894563^1,2	C	pathogenic	37499426(+)	`CATTCC/TGCCTC`	3	R C	mis¹ ut3¹		0	--	--	--	--
rs80356482^1,2	C	pathogenic	37501243(+)	`TGTCAC/GGTATG`	4	R G T	mis¹		0	--	--	--	--
rs104894569^1,2	C	pathogenic	37501254(+)	`TGCTGA/GAGTCC`	4	E G * W	mis¹ stg¹		0	--	--	--	--
rs104894571^1,2	C	pathogenic	37501308(+)	`GAATGG/TCTGTC`	4	G V W C	mis¹		0	--	--	--	--
rs104894568^1,2	C	pathogenic	37503109(+)	`GCACAA/GCAGGT`	3	T A	mis¹ int¹		0	--	--	--	--
rs104894567^1,2	C	pathogenic	37506637(+)	`CCTGTA/GAGACT`	4	K E	mis¹		0	--	--	--	--
rs1801176^1,2	C	pathogenic	37506717(+)	`ACAGCG/ATCCAT`	4	/H /R	mis¹		2		NA	4
rs1801175^1,2	C,F	pathogenic	37506718(+)	`GACAGC/TGTCCA`	4	R C	mis¹		3		NA EU	1327
rs104894566^1,2	C	pathogenic	37509516(+)	`TTAAGC/TGGTAA`	4	R W	mis¹		0	--	--	--	--
rs62078458^1,2	C,	--	36816077(+)	`TAGTAC/TACACA`	2	--	us2k¹		2		NA	4

HapMap Linkage Disequilibrium report for G6PC (41052814 - 41065386 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for G6PC
1 CNV: 0206
Human Gene Mutation Database (HGMD): G6PC

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

G6PC for disorders About GeneDecksing

OMIM gene information: 613742 OMIM disorders: --

UniProtKB/Swiss-Prot: G6PC_HUMAN, P35575

Defects in G6PC are the cause of glycogen storage disease type 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

20/55 diseases for G6PC (see all 55): About MalaCards

glycogen storage disease fanconi-bickel syndrome metabolic disorders sudden infant death syndrome

hypoglycemia glycogen storage disease type 1b glycogen storage disease type 1a glycogen storage disease type ia

developmental disabilities nonalcoholic steatohepatitis type 2 diabetes mellitus type 1 diabetes mellitus

diabetes mellitus lactic acidosis renal clear cell carcinoma wilson disease

favism hypophosphatemia insulin resistance biliary atresia

4 diseases from the University of Copenhagen DISEASES database for G6PC:

Glycogen storage disease Hyperuricemia Hypoglycemia Neutropenia

10/51 Novoseek disease relationships for G6PC gene (see all 51) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glycogen storage disease	96.2	144	7744838 (3), 11739393 (2), 9001800 (2), 20389290 (2) (see all 94)
glycogen storage disease type i	95.4	45	7632512 (2), 7668282 (1), 7572155 (1), 11560001 (1) (see all 32)
glycogen storage disease type vi	80.7	1	8728790 (1)
lactic acidemia	77.1	5	8949949 (2), 11899241 (1), 12189168 (1)
fanconi-bickel syndrome	68.7	1	7632512 (1)
hyperuricemia	68.6	12	8949949 (2), 10625614 (1), 12713862 (1), 11899241 (1) (see all 7)
hepatomegaly	65.4	10	11899241 (1), 12189168 (1), 12846528 (1), 9259982 (1) (see all 6)
hypoglycemia	61.9	12	8949949 (2), 10625614 (1), 11899241 (1), 17023421 (1) (see all 7)
metabolic disorder	56.5	25	8953636 (1), 8641644 (1), 11386847 (1), 9001800 (1) (see all 15)
glycogen storage disease type iv	51.3	2	8245377 (1)

GeneTests: G6PC

Glycogen Storage Disease Type I

Genetic Association Database (GAD): G6PC
Human Genome Epidemiology (HuGE) Navigator: G6PC (5 documents)

Export disorders for G6PC 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 G6PC gene, integrated from 9 sources (see all 439):
(articles sorted by number of sources associating them with G6PC)

Utopia: connect your pdf to the dynamic
world of online information

Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. (PubMed id 15316959)^{1, 2, 4, 9} Ekstein J....Risch N. (2004)
The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis. (PubMed id 12093795)^{1, 2, 9} Ghosh A.... Chou J.Y. (2002)
Asparagine-linked oligosaccharides are localized to a luminal hydrophilic loop in human glucose-6-phosphatase. (PubMed id 9705299)^{1, 2, 9} Pan C.J.... Chou J.Y. (1998)
Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a. (PubMed id 8182131)^{1, 2, 9} Lei K.J....Chou J.Y. (1994)
Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family. (PubMed id 9001800)^{1, 2, 9} Lee W.J.... Lin W.H. (1996)
Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype. (PubMed id 10960498)^{1, 2, 9} Weston B.W....Chen Y.T. (2000)
Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. (PubMed id 7573034)^{1, 2, 9} Lei K.-J....Chou J.Y. (1995)
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. (PubMed id 12373566)^{1, 2, 9} Matern D.... Chen Y.-T. (2002)
Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies. (PubMed id 9332655)^{1, 2, 9} Parvari R....Moses S.W. (1997)
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. (PubMed id 10748407)^{1, 2, 9} Akanuma J.... Narisawa K. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
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)
About This Section

Entrez Gene: 2538	HGNC: 4056	AceView: G6PC	Ensembl:ENSG00000131482	euGenes: HUgn2538
ECgene: G6PC	Kegg: 2538	H-InvDB: G6PC

(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

Name	Description
PharmGKB entry for G6PC	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/G6PC

Intellectual Property for G6PC gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for G6PC gene:
Search GeneIP for patents involving G6PC

GeneCards and IP:
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G6PC Gene

glucose-6-phosphatase, catalytic subunit

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HYPERURICEMIA
ENZYME DEFICIENCY
WILSON DISEASE
Developmental Disabilities
Cirrhosis
Brain Tumors
lactic acidemia
HYPERTENSION ARTERIAL
Hyperinsulinemia
Glioma
Glycogen Storage Disease Type VI
Sudden infant death syndrome
Bacterial Infections
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Hyperlipidemia
Glycogen Storage Disease Type III
Focal Nodular Hyperplasia
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FANCONI-BICKEL SYNDROME
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RENAL DISEASE
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G6PC Gene

glucose-6-phosphatase, catalytic subunit

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