Recombinant Human Glucose-6-phosphatase 2 (G6PC2), partial

1. The results suggest that the GCKR and G6PC2 genes may contribute to the risk of type 2 diabetes independently and/or in an interactive manner in the Han Chinese population. PMID: 30055620
2. The variant in TCF7L2 that increases fasting glucose levels increases between-subject variance, whereas variants in GCK and G6PC2 that increase fasting glucose levels decrease between-subject variance. PMID: 28783164
3. All three allele variants of G6PC2 (rs560887, rs16856187 and rs573225) are associated with elevated fasting glucose, with two variants (rs560887 in the Caucasians subgroup and rs16856187 under the allele and dominant model) being associated with T2 diabetes as well.[meta-analysis] PMID: 28704540
4. these studies identify multiple G6PC2 variants that have the potential to be associated with altered FBG in humans. PMID: 27611587
5. 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). PMID: 26341315
6. rs560887 associated with increased fasting glucose levels PMID: 25078492
7. 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. PMID: 25625282
8. three novel G6PC2 variants were discovered that occur in islets only, leading to protein truncations, frame shifts and neo-sequences prone to immunogenicity. PMID: 24030068
9. 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. PMID: 23840762
10. polymorphisms in the G6PC2 gene contribute to the association with higher fasting plasma glucose levels PMID: 23508304
11. A single nucleotide polymorphism in the beta cell gene G6PC2 may correlate with preserved insulin secretion in type 1 diabetes. PMID: 22438186
12. 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 PMID: 22983906
13. 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. PMID: 22486180
14. 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. PMID: 21515849
15. The effects of hyperglycemia on insulin secretion override the more subtle effects of genetic variation in the G6PC2 locus on insulin secretion. PMID: 20826583
16. 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. PMID: 20628598
17. 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. PMID: 20668700
18. Potential role linking single nucleotide polymphism in G6PC2 to variations in fasting blood glucose. PMID: 20622168
19. Fasting glucose association at G6PC2 is replicable across ethnic groups, although ethnic diversity in the pattern and strength of linkage disequilibrium exists. PMID: 19937311
20. 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 PMID: 20029179
21. IGRP is likely the authentic islet-specific glucose-6-phosphatase catalytic subunit, and selective inhibitors to this molecule can be obtained PMID: 14722102
22. 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. PMID: 15044018
23. 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. PMID: 16012821
24. 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. PMID: 16493034
25. Differential tissue expression may aid in designing synthetic peptides for the identification of IGRP-specific autoreactive T cells in patients with type 1 diabetes. PMID: 16520917
26. human CD8 T cell clone against this epitope, which confirms that this IGRP epitope is shared across species. PMID: 17376840
27. missense mutation in exon 4, L173P, found in glycogen storage disease type Ia PMID: 17607665
28. 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 PMID: 18451265
29. 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. PMID: 18521185
30. 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. PMID: 18753309
31. 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. PMID: 18984742
32. Mutations and single nucleotide polymorphisms in this protein do not conribute to neonatal or early infant type 1 diabetes. PMID: 19238352
33. Variations and single-nucleotide polymorphisms are associated in variations in fasting plasma glucose and an increased risk of type 2 diabetes. PMID: 19533084
34. 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. PMID: 19669124
35. Data suggest that variation in GCK and G6PC2 have additive effects on both fasting glucose and insulin secretion. PMID: 19741163
36. 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. PMID: 19082990

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HGNC: 28906

OMIM: 608058

KEGG: hsa:57818

STRING: 9606.ENSP00000364512

UniGene: Hs.283963