GPT2 (glutamic--pyruvic transaminase 2)

Gene

• Entrez ID: 84706
• Gene name: Glutamic--pyruvic transaminase 2
• Gene symbol: GPT2
• Synonyms: ALT2, GPT 2, MRT49, NEDSPM
• Chromosome: 16
• Chromosome location: 16q11.2
• Summary: 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs115352435	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs786203999	C>G	Pathogenic	Coding sequence variant, missense variant
rs886041649	G>T	Pathogenic	Stop gained, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs1437184398	C>T	Pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020600	hsa-miR-155-5p	Proteomics	18668040
MIRT028719	hsa-miR-27a-3p	Sequencing	20371350
MIRT035805	hsa-miR-1909-5p	CLASH	23622248
MIRT044565	hsa-miR-320a	CLASH	23622248
MIRT513024	hsa-miR-6833-5p	PAR-CLIP	23446348
MIRT513025	hsa-miR-3911	PAR-CLIP	23446348
MIRT513026	hsa-miR-6866-5p	PAR-CLIP	23446348
MIRT513027	hsa-miR-3190-3p	PAR-CLIP	23446348
MIRT513028	hsa-miR-6762-3p	PAR-CLIP	23446348
MIRT513029	hsa-miR-5093	PAR-CLIP	23446348
MIRT513030	hsa-miR-6884-5p	PAR-CLIP	23446348
MIRT513031	hsa-miR-485-5p	PAR-CLIP	23446348
MIRT513032	hsa-miR-4783-3p	PAR-CLIP	23446348
MIRT718047	hsa-miR-6720-5p	HITS-CLIP	19536157
MIRT718048	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT718049	hsa-miR-6512-3p	HITS-CLIP	19536157
MIRT718050	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT718051	hsa-miR-6741-3p	HITS-CLIP	19536157
MIRT718052	hsa-miR-4738-5p	HITS-CLIP	19536157

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004021	Function	L-alanine:2-oxoglutarate aminotransferase activity	IDA	11863375
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006103	Process	2-oxoglutarate metabolic process	IDA	11863375
GO:0008652	Process	Cellular amino acid biosynthetic process	TAS
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0042851	Process	L-alanine metabolic process	IDA	11863375
GO:0042853	Process	L-alanine catabolic process	IEA

Other IDs

• MIM: 138210
• HGNC: 18062
• e!Ensembl: ENSG00000166123

Protein

• UniProt ID: Q8TD30
• Protein name: Alanine aminotransferase 2 (ALT2) (EC 2.6.1.2) (Glutamate pyruvate transaminase 2) (GPT 2) (Glutamic--alanine transaminase 2) (Glutamic--pyruvic transaminase 2)
• Protein function: Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate.
• PDB: 3IHJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00155	Aminotran_1_2	110 → 511	Aminotransferase class I and II	Domain

• Sequence:

  MQRAAALVRRGCGPRTPSSWGRSQSSAAAEASAVLKVRPERSRRERILTLESMNPQVKAV
  EYAVRGPIVLKAGEIELELQRGIKKPFTEVIRANIGDAQAMGQQPITFLRQVMALCTYPN
  LLDSPSFPEDAKKRARRILQACGGNSLGSYSASQGVNCIREDVAAYITRRDGGVPADPDN
  IYLTTGASDGISTILKILVSGGGKSRTGVMIPIPQYPLYSAVISELDAIQVNYYLDEENC
  WALNVNELRRAVQEAKDHCDPKVLCIINPGNPTGQVQSRKCIEDVIHFAWEEKLFLLADE
  VYQDNVYSPDCRFHSFKKVLYEMGPEYSSNVELASFHSTSKGYMGECGYRGGYMEVINLH
  PEIKGQLVKLLSVRLCPPVSGQAAMDIVVNPPVAGEESFEQFSREKESVLGNLAKKAKLT
  EDLFNQVPGIHCNPLQGAMYAFPRIFIPAKAVEAAQAHQMAPDMFYCMKLLEETGICVVP
  GSGFGQREGTYHFRMTILPPVEKLKTVLQKVKDFHINFLEKYA

• Sequence length: 523