Glutamic--pyruvic transaminase 2

GPT2
Identifiers
Aliases	GPT2, ALT2, GPT 2, MRT49, glutamic pyruvate transaminase (alanine aminotransferase) 2, glutamic--pyruvic transaminase 2, NEDSPM
External IDs	OMIM: 138210; MGI: 1915391; GeneCards: GPT2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3IHJ
Enzyme activity
Gene location (Human)
Chr.	Chromosome 16 (human)
End	46,931,289 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	86,254,189 bp
RNA expression pattern
	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
	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
Databases	NCBI: entry; OMA: entry
	84706
	108682
	ENSG00000166123
	ENSMUSG00000031700
	Q8TD30
	Q8BGT5
	NM_133443; NM_001142466
	NM_173866
	NP_001135938; NP_597700
	NP_776291
	Wikidata
View/Edit Human	View/Edit Mouse

Glutamic--pyruvic transaminase 2 is a protein that in humans is encoded by the GPT2 gene.^[5]

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].

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000166123 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031700 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: Glutamic--pyruvic transaminase 2". Retrieved 2018-05-07.

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.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000166123 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031700 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Glutamic--pyruvic transaminase 2". Retrieved 2018-05-07.

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[5]

Function

References

Further reading