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Gene : GPT2 Homo sapiens

Name  ? glutamic--pyruvic transaminase 2 Cytological Location  16q11.2
Brief Description  glutamic--pyruvic transaminase 2
Description  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]
  • synonyms:
  • ALT2,
  • HGNC:18062,
  • ALT2,
  • GPT2,
  • glutamic pyruvate transaminase 2,
  • MRT49,
  • NM_001142466,
  • GPT 2,
  • OTTHUMG00000132541,
  • alanine aminotransferase 2,
  • uc002eel.4
  • identifiers:
  • 84706,
  • ENSG00000166123,
  • GPT2

Genome feature

Region: gene ? Length: 46928  
Location: 16:46884362-46931289 Cyto location: 16q11.2


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

Gene --> Proteins.

SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

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Expression

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Other

323 SN Ps

5 Cross References

19 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results