Property Summary

NCBI Gene PubMed Count 57
Grant Count 40
R01 Count 28
Funding $2,910,141.99
PubMed Score 81.28
PubTator Score 54.83

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma 1.515 0.000
psoriasis -1.500 0.000

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.
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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.
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