Glutamic--pyruvic transaminase 2

This article is about the protein encoded by the GPT2 gene. For the transformer language model, see GPT-2.

Glutamic--pyruvic transaminase 2 is a protein that in humans is encoded by the GPT2 gene.

GPT2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3IHJ
Identifiers
Aliases	GPT2, ALT2, GPT 2, MRT49, glutamic pyruvate transaminase (alanine aminotransferase) 2, glutamic--pyruvic transaminase 2, NEDSPM
External IDs	OMIM: 138210; MGI: 1915391; HomoloGene: 68832; GeneCards: GPT2; OMA:GPT2 - orthologs
Gene location (Human) Chr. Chromosome 16 (human) Band 16q11.2 Start 46,884,362 bp End 46,931,289 bp
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8|8 C3 Start 86,219,205 bp End 86,254,189 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of pancreas muscle of thigh right lobe of liver ventricular zone amygdala skeletal muscle tissue vastus lateralis muscle minor salivary glands gastrocnemius muscle Skeletal muscle tissue of biceps brachii Top expressed in lacrimal gland muscle of thigh gastrocnemius muscle seminal vesicula triceps brachii muscle vastus lateralis muscle medial head of gastrocnemius muscle cheek parotid gland temporal muscle More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity L-alanine:2-oxoglutarate aminotransferase activity pyridoxal phosphate binding catalytic activity transaminase activity Cellular component mitochondrial matrix Biological process L-alanine catabolic process cellular amino acid biosynthetic process L-alanine metabolic process 2-oxoglutarate metabolic process biosynthesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 84706 108682 Ensembl ENSG00000166123 ENSMUSG00000031700 UniProt Q8TD30 Q8BGT5 RefSeq (mRNA) NM_133443 NM_001142466 NM_173866 RefSeq (protein) NP_001135938 NP_597700 NP_776291 Location (UCSC) Chr 16: 46.88 – 46.93 Mb Chr 8: 86.22 – 86.25 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Function

This gene encodes a mitochondrial alanine transaminase, a pyridoxal enzyme that catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate. Alanine transaminases play roles in gluconeogenesis and amino acid metabolism in many tissues including skeletal muscle, kidney, and liver. Activating transcription factor 4 upregulates this gene under metabolic stress conditions in hepatocyte cell lines. A loss of function mutation in this gene has been associated with developmental encephalopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015].

Further reading

• Yang RZ, Blaileanu G, Hansen BC, Shuldiner AR, Gong DW (March 2002). "cDNA cloning, genomic structure, chromosomal mapping, and functional expression of a novel human alanine aminotransferase". Genomics. 79 (3): 445–50. doi:10.1006/geno.2002.6722. PMID 11863375.
• Ding Y, Zhao L, Mei H, Huang ZH, Zhang SL (November 2006). "Alterations of biliary biochemical constituents and cytokines in infantile hepatitis syndrome". World J. Gastroenterol. 12 (43): 7038–41. doi:10.3748/wjg.v12.i43.7038. PMC 4087351. PMID 17109502.
• Fraser A, Ebrahim S, Smith GD, Lawlor DA (July 2007). "A comparison of associations of alanine aminotransferase and gamma-glutamyltransferase with fasting glucose, fasting insulin, and glycated hemoglobin in women with and without diabetes". Hepatology. 46 (1): 158–65. doi:10.1002/hep.21667. PMID 17596883. S2CID 12779974.
• Glinghammar B, Rafter I, Lindström AK, Hedberg JJ, Andersson HB, Lindblom P, Berg AL, Cotgreave I (May 2009). "Detection of the mitochondrial and catalytically active alanine aminotransferase in human tissues and plasma". Int. J. Mol. Med. 23 (5): 621–31. doi:10.3892/ijmm_00000173. PMID 19360321.
• Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ (September 2010). "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression". PLOS ONE. 5 (9): e12862. Bibcode:2010PLoSO...512862H. doi:10.1371/journal.pone.0012862. PMC 2943476. PMID 20877624.
• Salgado MC, Metón I, Anemaet IG, Baanante IV (2014). "Activating transcription factor 4 mediates up-regulation of alanine aminotransferase 2 gene expression under metabolic stress". Biochim. Biophys. Acta. 1839 (4): 288–96. doi:10.1016/j.bbagrm.2014.01.005. PMID 24418603.
• Celis K, Shuldiner S, Haverfield EV, Cappell J, Yang R, Gong DW, Chung WK (September 2015). "Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy". J. Inherit. Metab. Dis. 38 (5): 941–8. doi:10.1007/s10545-015-9824-x. PMC 4919120. PMID 25758935.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.