• Gene id: 84706

Gene Summary

• Gene Symbol: GPT2   Gene   UCSC   Ensembl
• Aliases: ALT2, GPT 2, MRT49
• Gene name: glutamic--pyruvic transaminase 2
• Alternate names: alanine aminotransferase 2, glutamate pyruvate transaminase 2, glutamic pyruvate transaminase (alanine aminotransferase) 2, glutamic pyruvate transaminase 2, glutamic--alanine transaminase 2,
• Gene location: 16q11.2 (46884361: 46931288)     Exons: 80     NC_000016.10
• Gene summary(Entrez): 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 ac
• OMIM: 138210

Protein Summary

• Protein general information: Q8TD30  
  • Name: Alanine aminotransferase 2 (ALT2) (EC 2.6.1.2) (Glutamate pyruvate transaminase 2) (GPT 2) (Glutamic alanine transaminase 2) (Glutamic pyruvic transaminase 2)
  • Length: 523  
  • Mass: 57904
  • Tissue specificity: Expressed at high levels in muscle, adipose tissue, kidney and brain and at lower levels in the liver and breast. {ECO
• Sequence:

  MQRAAALVRRGCGPRTPSSWGRSQSSAAAEASAVLKVRPERSRRERILTLESMNPQVKAVEYAVRGPIVLKAGEI
  ELELQRGIKKPFTEVIRANIGDAQAMGQQPITFLRQVMALCTYPNLLDSPSFPEDAKKRARRILQACGGNSLGSY
  SASQGVNCIREDVAAYITRRDGGVPADPDNIYLTTGASDGISTILKILVSGGGKSRTGVMIPIPQYPLYSAVISE
  LDAIQVNYYLDEENCWALNVNELRRAVQEAKDHCDPKVLCIINPGNPTGQVQSRKCIEDVIHFAWEEKLFLLADE
  VYQDNVYSPDCRFHSFKKVLYEMGPEYSSNVELASFHSTSKGYMGECGYRGGYMEVINLHPEIKGQLVKLLSVRL
  CPPVSGQAAMDIVVNPPVAGEESFEQFSREKESVLGNLAKKAKLTEDLFNQVPGIHCNPLQGAMYAFPRIFIPAK
  AVEAAQAHQMAPDMFYCMKLLEETGICVVPGSGFGQREGTYHFRMTILPPVEKLKTVLQKVKDFHINFLEKYA

• Structural information:
  • Interpro: IPR004839  IPR015424  IPR015422  IPR015421  
  • PDB: 3IHJ
  • PDBsum: 3IHJ
  • STRING: ENSP00000345282
• Other Databases: GeneCards:  GPT2  Malacards:  GPT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004021	L-alanine:2-oxoglutarate aminotransferase activity	IBA	molecular function
GO:0006103	2-oxoglutarate metabolic process	IDA	biological process
GO:0042851	L-alanine metabolic process	IDA	biological process
GO:0004021	L-alanine:2-oxoglutarate aminotransferase activity	IDA	molecular function
GO:0009058	biosynthetic process	IEA	biological process
GO:0030170	pyridoxal phosphate binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0008483	transaminase activity	IEA	molecular function
GO:0004021	L-alanine:2-oxoglutarate aminotransferase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0008652	cellular amino acid biosynthetic process	TAS	biological process
GO:0042853	L-alanine catabolic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa01230	Biosynthesis of amino acids
hsa00250	Alanine, aspartate and glutamate metabolism
hsa01210	2-Oxocarboxylic acid metabolism
hsa00220	Arginine biosynthesis

Diseases

Associated diseases	References
Autosomal recessive mental retardation	KEGG:H00768
Autosomal recessive mental retardation	KEGG:H00768
Non-alcoholic fatty liver disease	PMID:22922605
liver cancer	PMID:22922605
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq