Property Summary

NCBI Gene PubMed Count 57
PubMed Score 81.28
PubTator Score 54.83

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (3)

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma 1.515 1.4e-07
psoriasis -1.500 4.2e-07

Gene RIF (55)

PMID Text
26341315 Data suggest that islet-specific glucose 6 phosphatase catalytic subunit-related protein (IGRP)-specific CD4(+) helper T (Th) cells play a unique pathogenic role in adult-onset T1D (AT1D).
25625282 we identified coding variants at several GWAS loci which point to the genes underlying these association signals. Importantly, we found that multiple coding variants in G6PC2 result in a loss of protein function and lower fasting glucose levels.
25078492 rs560887 associated with increased fasting glucose levels
24030068 three novel G6PC2 variants were discovered that occur in islets only, leading to protein truncations, frame shifts and neo-sequences prone to immunogenicity.
23840762 GCKR rs780094 variant confers high cross-ethnicity risk for the development of T2DM, while significant associations between GCK, MTNR1B and G6PC2 variants and T2DM risk are limited to Caucasians.
23508304 polymorphisms in the G6PC2 gene contribute to the association with higher fasting plasma glucose levels
22983906 one of the newly identified spontaneously reactive epitopes (P8 [IGRP(55-72)]) is highly conserved between mice and man, suggesting that it might also be a target of HLA-DQ8-restricted T cells in diabetic human subjects
22486180 Variation at the rs560887 locus of G6PC2 is associated with worse glycated haemoglobin levels in individuals with GCK mutations; GG homozygotes are more likely to meet diagnostic criteria for diabetes based on HbA(1c) level.
22438186 A single nucleotide polymorphism in the beta cell gene G6PC2 may correlate with preserved insulin secretion in type 1 diabetes.
21515849 Children and adolescents carrying glucose-raising alleles of G6PC2, MTNR1B, GCK, and GLIS3 also showed reduced beta-cell function, as indicated by homeostasis model assessment of beta-cell function.
21036910 Observational study of gene-disease association. (HuGE Navigator)
20858683 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
20826583 The effects of hyperglycemia on insulin secretion override the more subtle effects of genetic variation in the G6PC2 locus on insulin secretion.
20826583 Observational study of gene-disease association. (HuGE Navigator)
20816152 Observational study of gene-disease association. (HuGE Navigator)
20668700 Study showed that SNPs from GCK, G6PC2 and MTNR1B modulated the fasting glucose levels in the normoglycaemic population while SNPs from G6PC2 and GCKR was associated with type 2 diabetes.
20668700 Observational study of gene-disease association. (HuGE Navigator)
20628598 Common variants of MTNR1B, G6PC2 and GCK are associated with elevated FPG and impaired insulin secretion, both individually and jointly, suggesting that these risk alleles may precipitate or perpetuate hyperglycemia in predisposed individuals.
20628598 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
20622168 Potential role linking single nucleotide polymphism in G6PC2 to variations in fasting blood glucose.
20622168 Observational study of gene-disease association. (HuGE Navigator)
20571754 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20029179 results independently confirm the robust association of glucose-6-phosphatase catalytic 2(G6PC2)/rs560887 with fasting plasma glucose levels in non-diabetic non-Hispanic white Americans
20029179 Observational study of gene-disease association. (HuGE Navigator)
19937311 Fasting glucose association at G6PC2 is replicable across ethnic groups, although ethnic diversity in the pattern and strength of linkage disequilibrium exists.
19937311 Observational study of gene-disease association. (HuGE Navigator)
19741166 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19741163 Data suggest that variation in GCK and G6PC2 have additive effects on both fasting glucose and insulin secretion.
19741163 Observational study of gene-disease association. (HuGE Navigator)
19669124 The common rs560887 G allele in the G6PC2/ABCB11 locus is associated with increased fasting glycaemia and increased risk of IFG, associations that may be partly related to an increased basal hepatic glucose production rate.
19669124 Observational study of gene-disease association. (HuGE Navigator)
19651812 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19533084 Variations and single-nucleotide polymorphisms are associated in variations in fasting plasma glucose and an increased risk of type 2 diabetes.
19533084 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19238352 Mutations and single nucleotide polymorphisms in this protein do not conribute to neonatal or early infant type 1 diabetes.
19238352 Observational study of gene-disease association. (HuGE Navigator)
19125775 Observational study of gene-disease association. (HuGE Navigator)
19096518 Observational study of gene-disease association. (HuGE Navigator)
19082990 SNP rs16856187 was associated with type 2 diabetes and fasting plasma glucose in the Chinese population; carriers of the A allele displayed a higher risk for type 2 diabetes and a lower fasting plasma glucose level in the controls.
19082990 Observational study of gene-disease association. (HuGE Navigator)
19060907 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
18984742 rs573225 is a functional cis-regulatory (epi)-single-nucleotide polymorphism (SNP) of G6PC2 associated with glucose-insulin homeostasis in obese children, likely to explain the results of recent genome-wide association studies in nondiabetic adults.
18984742 Observational study of gene-disease association. (HuGE Navigator)
18753309 Data suggest that a group of transcription factors, including MafA and Foxa2, regulate expression of two major autoantigens in type 1 diabetes, including islet-specific glucose-6-phosphatase catalytic subunit-related protein.
18521185 Genetic Polymorphisms of the G6PC2 gene may underlie variation in fasting blood glucose levels, and genetic Polymorphisms of the ABCB11 gene may also contribute to such variation.
18521185 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18451265 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18451265 SNP rs560887 was associated with fasting plasma glucose (FPG); it is speculated that G6PC2 regulates FPG by modulating the set point for glucose-stimulated insulin secretion in pancreatic beta cells
17607665 missense mutation in exon 4, L173P, found in glycogen storage disease type Ia
17376840 human CD8 T cell clone against this epitope, which confirms that this IGRP epitope is shared across species.
16520917 Differential tissue expression may aid in designing synthetic peptides for the identification of IGRP-specific autoreactive T cells in patients with type 1 diabetes.
16493034 This study demonstrates the prevalence of CD4+ IGRP-specific T cells not only in subjects with type I diabetes, but also in healthy individuals carrying the DR0301 or DR0401 haplotypes.
16012821 Alpha mutants containing the beta cell antigen sequence are preferentially degraded in cells, which prevents targeting by pathogenic CD8+ T cells implying that IGRP levels in beta cells could dictate susceptibilities to diabetes.
15044018 Data show that islet-specific glucose-6-phosphatase-related protein is an endoplasmic reticulum membrane glycoprotein, and is degraded through the proteasome pathway that generates the major histocompatibility complex class I-presented peptides.
14722102 IGRP is likely the authentic islet-specific glucose-6-phosphatase catalytic subunit, and selective inhibitors to this molecule can be obtained

AA Sequence

MDFLHRNGVLIIQHLQKDYRAYYTFLNFMSNVGDPRNIFFIYFPLCFQFNQTVGTKMIWVAVIGDWLNLI      1 - 70
FKWILFGHRPYWWVQETQIYPNHSSPCLEQFPTTCETGPGSPSGHAMGASCVWYVMVTAALSHTVCGMDK     71 - 140
FSITLHRLTWSFLWSVFWLIQISVCISRVFIATHFPHQVILGVIGGMLVAEAFEHTPGIQTASLGTYLKT    141 - 210
NLFLFLFAVGFYLLLRVLNIDLLWSVPIAKKWCANPDWIHIDTTPFAGLVRNLGVLFGLGFAINSEMFLL    211 - 280
SCRGGNNYTLSFRLLCALTSLTILQLYHFLQIPTHEEHLFYVLSFCKSASIPLTVVAFIPYSVHMLMKQS    281 - 350
GKKSQ                                                                     351 - 355
//

Text Mined References (60)

PMID Year Title
26341315 2015 Adult-onset type 1 diabetes patients display decreased IGRP-specific Tr1 cells in blood.
25625282 2015 Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.
25187374 2015 Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
25078492 2015 Examining the causal association of fasting glucose with blood pressure in healthy children and adolescents: a Mendelian randomization study employing common genetic variants of fasting glucose.
24647736 2014 Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
24405752 2014 Genome-wide association study identifies common loci influencing circulating glycated hemoglobin (HbA1c) levels in non-diabetic subjects: the Long Life Family Study (LLFS).
24030068 2013 Alternative splicing and differential expression of the islet autoantigen IGRP between pancreas and thymus contributes to immunogenicity of pancreatic islets but not diabetogenicity in humans.
23903356 2013 Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.
23840762 2013 Large scale meta-analyses of fasting plasma glucose raising variants in GCK, GCKR, MTNR1B and G6PC2 and their impacts on type 2 diabetes mellitus risk.
23508304 2013 Multiple functional polymorphisms in the G6PC2 gene contribute to the association with higher fasting plasma glucose levels.
22983906 2013 Mapping I-A(g7) restricted epitopes in murine G6PC2.
22916037 2012 Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
22581228 2012 A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
22508271 2012 Fasting glucose GWAS candidate region analysis across ethnic groups in the Multiethnic Study of Atherosclerosis (MESA).
22486180 2012 HbA1c-based diabetes diagnosis among patients with glucokinase mutation (GCK-MODY) is affected by a genetic variant of glucose-6-phosphatase (G6PC2).
22438186 2013 A SNP in G6PC2 predicts insulin secretion in type 1 diabetes.
22399527 2012 Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.
22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
21515849 2011 Association of genetic Loci with glucose levels in childhood and adolescence: a meta-analysis of over 6,000 children.
21036910 2011 Association of a fasting glucose genetic risk score with subclinical atherosclerosis: The Atherosclerosis Risk in Communities (ARIC) study.
20858683 2010 Common variants at 10 genomic loci influence hemoglobin A?(C) levels via glycemic and nonglycemic pathways.
20826583 2010 The impact of genetic variation in the G6PC2 gene on insulin secretion depends on glycemia.
20816152 2010 Obesity and diabetes genetic variants associated with gestational weight gain.
20668700 2010 Effects of GCK, GCKR, G6PC2 and MTNR1B variants on glucose metabolism and insulin secretion.
20628598 2010 Common polymorphisms in MTNR1B, G6PC2 and GCK are associated with increased fasting plasma glucose and impaired beta-cell function in Chinese subjects.
20622168 2010 Genetic and functional assessment of the role of the rs13431652-A and rs573225-A alleles in the G6PC2 promoter that are strongly associated with elevated fasting glucose levels.
20571754 2010 Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.
20081858 2010 New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
20029179 2010 Association of a common G6PC2 variant with fasting plasma glucose levels in non-diabetic individuals.
19937311 2010 Common variants at the GCK, GCKR, G6PC2-ABCB11 and MTNR1B loci are associated with fasting glucose in two Asian populations.
19741166 2009 Common genetic determinants of glucose homeostasis in healthy children: the European Youth Heart Study.
19741163 2009 Additive effects of genetic variation in GCK and G6PC2 on insulin secretion and fasting glucose.
19669124 2009 A variant in the G6PC2/ABCB11 locus is associated with increased fasting plasma glucose, increased basal hepatic glucose production and increased insulin release after oral and intravenous glucose loads.
19651812 2009 Common genetic variation near melatonin receptor MTNR1B contributes to raised plasma glucose and increased risk of type 2 diabetes among Indian Asians and European Caucasians.
19533084 2009 Combined effects of single-nucleotide polymorphisms in GCK, GCKR, G6PC2 and MTNR1B on fasting plasma glucose and type 2 diabetes risk.
19238352 2009 Mutations in G6PC2 do not contribute to monogenic forms of early infancy diabetes and beta cell dysfunction.
19125775 2009 Mutations in the third gene shown to alter fasting glucose levels in the population (G6PC2) are not a common cause of monogenic forms of pancreatic B-cell dysfunction.
19096518 2008 Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study.
19082990 2009 A genetic variant of G6PC2 is associated with type 2 diabetes and fasting plasma glucose level in the Chinese population.
19060910 2009 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
19060907 2009 Variants in MTNR1B influence fasting glucose levels.
18984742 2009 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.
18753309 2008 Foxa2 and MafA regulate islet-specific glucose-6-phosphatase catalytic subunit-related protein gene expression.
18521185 2008 Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels.
18451265 2008 A polymorphism within the G6PC2 gene is associated with fasting plasma glucose levels.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17607665 2007 Prenatal diagnosis of glycogen storage disease type Ia, presenting a new mutation in the glucose-6-phosphatase gene.
17376840 2007 Human clonal CD8 autoreactivity to an IGRP islet epitope shared between mice and men.
16520917 2006 Alternative splicing of G6PC2, the gene coding for the islet-specific glucose-6-phosphatase catalytic subunit-related protein (IGRP), results in differential expression in human thymus and spleen compared with pancreas.
16493034 2006 Islet-specific glucose-6-phosphatase catalytic subunit-related protein-reactive CD4+ T cells in human subjects.
16012821 2005 In islet-specific glucose-6-phosphatase-related protein, the beta cell antigenic sequence that is targeted in diabetes is not responsible for the loss of phosphohydrolase activity.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15044018 2004 The islet-specific glucose-6-phosphatase-related protein, implicated in diabetes, is a glycoprotein embedded in the endoplasmic reticulum membrane.
14722102 2004 Enzymatic characterization of the pancreatic islet-specific glucose-6-phosphatase-related protein (IGRP).
12815107 2003 Identification of the beta cell antigen targeted by a prevalent population of pathogenic CD8+ T cells in autoimmune diabetes.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11297555 2001 Cloning and characterization of the human and rat islet-specific glucose-6-phosphatase catalytic subunit-related protein (IGRP) genes.
10078554 1999 Structure and promoter activity of an islet-specific glucose-6-phosphatase catalytic subunit-related gene.
10078553 1999 Molecular cloning of a pancreatic islet-specific glucose-6-phosphatase catalytic subunit-related protein.