G6PC2
From Wikipedia, the free encyclopedia
Glucose-6-phosphatase, catalytic, 2
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Identifiers | |||||
Symbol(s) | G6PC2; IGRP; MGC141936 | ||||
External IDs | OMIM: 608058 MGI: 1277193 HomoloGene: 41423 | ||||
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RNA expression pattern | |||||
Orthologs | |||||
Human | Mouse | ||||
Entrez | 57818 | 14378 | |||
Ensembl | ENSG00000152254 | ENSMUSG00000005232 | |||
Refseq | NM_001081686 (mRNA) NP_001075155 (protein) |
NM_021331 (mRNA) NP_067306 (protein) |
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Location | Chr 2: 169.47 - 169.47 Mb | Chr 2: 69.02 - 69.03 Mb | |||
Pubmed search | [1] | [2] |
Glucose-6-phosphatase, catalytic, 2, also known as G6PC2, is a human gene.[1]
This gene encodes an enzyme belonging to the glucose-6-phosphatase catalytic subunit family. These enzymes are part of a multicomponent integral membrane system that catalyzes the hydrolysis of glucose-6-phosphate, the terminal step in gluconeogenic and glycogenolytic pathways, allowing the release of glucose into the bloodstream. The family member encoded by this gene is found in pancreatic islets and does not exhibit phosphohydrolase activity, but it is a major target of cell-mediated autoimmunity in diabetes. Several alternatively spliced transcript variants of this gene have been described, but their biological validity has not been determined.[1]
[edit] References
[edit] Further reading
- Arden SD, Zahn T, Steegers S, et al. (1999). "Molecular cloning of a pancreatic islet-specific glucose-6-phosphatase catalytic subunit-related protein.". Diabetes 48 (3): 531–42. PMID 10078553.
- Ebert DH, Bischof LJ, Streeper RS, et al. (1999). "Structure and promoter activity of an islet-specific glucose-6-phosphatase catalytic subunit-related gene.". Diabetes 48 (3): 543–51. PMID 10078554.
- Martin CC, Bischof LJ, Bergman B, et al. (2001). "Cloning and characterization of the human and rat islet-specific glucose-6-phosphatase catalytic subunit-related protein (IGRP) genes.". J. Biol. Chem. 276 (27): 25197–207. doi: . PMID 11297555.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi: . PMID 12477932.
- Lieberman SM, Evans AM, Han B, et al. (2003). "Identification of the beta cell antigen targeted by a prevalent population of pathogenic CD8+ T cells in autoimmune diabetes.". Proc. Natl. Acad. Sci. U.S.A. 100 (14): 8384–8. doi: . PMID 12815107.
- Petrolonis AJ, Yang Q, Tummino PJ, et al. (2004). "Enzymatic characterization of the pancreatic islet-specific glucose-6-phosphatase-related protein (IGRP).". J. Biol. Chem. 279 (14): 13976–83. doi: . PMID 14722102.
- Shieh JJ, Pan CJ, Mansfield BC, Chou JY (2004). "The islet-specific glucose-6-phosphatase-related protein, implicated in diabetes, is a glycoprotein embedded in the endoplasmic reticulum membrane.". FEBS Lett. 562 (1-3): 160–4. doi: . PMID 15044018.
- Shieh JJ, Pan CJ, Mansfield BC, Chou JY (2006). "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.". Diabetologia 48 (9): 1851–9. doi: . PMID 16012821.
- Yang J, Danke NA, Berger D, et al. (2006). "Islet-specific glucose-6-phosphatase catalytic subunit-related protein-reactive CD4+ T cells in human subjects.". J. Immunol. 176 (5): 2781–9. PMID 16493034.
- Dogra RS, Vaidyanathan P, Prabakar KR, et al. (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.". Diabetologia 49 (5): 953–7. doi: . PMID 16520917.
- Unger WW, Pinkse GG, Mulder-van der Kracht S, et al. (2007). "Human clonal CD8 autoreactivity to an IGRP islet epitope shared between mice and men.". Ann. N. Y. Acad. Sci. 1103: 192–5. doi: . PMID 17376840.
- Li DZ, Liao C, Tang XW (2007). "Prenatal diagnosis of glycogen storage disease type Ia, presenting a new mutation in the glucose-6-phosphatase gene.". Prenat. Diagn. 27 (7): 685–6. doi: . PMID 17607665.