BCAT2 (branched chain amino acid transaminase 2)

2017-08-01  

Identity

HGNC
LOCATION
19q13.33
LOCUSID
ALIAS
BCAM,BCATM,BCT2,HVLI,PP18
FUSION GENES

Other Information

Locus ID:

NCBI: 587
MIM: 113530
HGNC: 977
Ensembl: ENSG00000105552

Variants:

dbSNP: 587
ClinVar: 587
TCGA: ENSG00000105552
COSMIC: BCAT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105552ENST00000316273O15382
ENSG00000105552ENST00000402551B3KSI3
ENSG00000105552ENST00000545387O15382
ENSG00000105552ENST00000593515M0QXF9
ENSG00000105552ENST00000597011B3KSI3
ENSG00000105552ENST00000598162M0QZ10
ENSG00000105552ENST00000599246M0QZP4
ENSG00000105552ENST00000601681M0R2K7

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Valine, leucine and isoleucine degradationKEGGko00280
Valine, leucine and isoleucine biosynthesisKEGGko00290
Pantothenate and CoA biosynthesisKEGGko00770
Valine, leucine and isoleucine degradationKEGGhsa00280
Valine, leucine and isoleucine biosynthesisKEGGhsa00290
Pantothenate and CoA biosynthesisKEGGhsa00770
Cysteine and methionine metabolismKEGGko00270
Cysteine and methionine metabolismKEGGhsa00270
Metabolic pathwaysKEGGhsa01100
Leucine degradation, leucine => acetoacetate + acetyl-CoAKEGGhsa_M00036
Leucine degradation, leucine => acetoacetate + acetyl-CoAKEGGM00036
2-Oxocarboxylic acid metabolismKEGGhsa01210
2-Oxocarboxylic acid metabolismKEGGko01210
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Branched-chain amino acid catabolismREACTOMER-HSA-70895

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
292116982018Branched-chain amino acid metabolism in cancer.30
151821792004Roles for cysteine residues in the regulatory CXXC motif of human mitochondrial branched chain aminotransferase enzyme.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
230434562012Distribution of the branched chain aminotransferase proteins in the human brain and their role in glutamate regulation.16
122698022002Crystal structures of human mitochondrial branched chain aminotransferase reaction intermediates: ketimine and pyridoxamine phosphate forms.12
191198492009S-Nitrosoglutathione inactivation of the mitochondrial and cytosolic BCAT proteins: S-nitrosation and S-thiolation.12
121190212002Identification of a peroxide-sensitive redox switch at the CXXC motif in the human mitochondrial branched chain aminotransferase.11
170505312006Human mitochondrial branched chain aminotransferase isozyme: structural role of the CXXC center in catalysis.9
221077882012Differential redox potential between the human cytosolic and mitochondrial branched-chain aminotransferase.2
297258562018Skeletal muscle amino acid transporter and BCAT2 expression prior to and following interval running or resistance exercise in mode-specific trained males.2

Citation

Dessen P

BCAT2 (branched chain amino acid transaminase 2)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/56927/bcat2