BCAT2 (branched chain amino acid transaminase 2)

2017-08-01  

Identity

HGNC
BCAT2
LOCATION
19q13.33
LOCUSID
587
ALIAS
BCAM,BCATM,BCT2,HVLI,PP18
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
379263612024Deficiency of BCAT2-mediated branched-chain amino acid catabolism promotes colorectal cancer development.1
379263612024Deficiency of BCAT2-mediated branched-chain amino acid catabolism promotes colorectal cancer development.1
378010832023BCAT2 promotes melanoma progression by activating lipogenesis via the epigenetic regulation of FASN and ACLY expressions.0
378010832023BCAT2 promotes melanoma progression by activating lipogenesis via the epigenetic regulation of FASN and ACLY expressions.0
343407272022Effect of the BCAT2 polymorphism (rs11548193) on plasma branched-chain amino acid concentrations after dietary intervention in subjects with obesity and insulin resistance.0
343407272022Effect of the BCAT2 polymorphism (rs11548193) on plasma branched-chain amino acid concentrations after dietary intervention in subjects with obesity and insulin resistance.0
330978332021Branched-chain amino acid aminotransferase 2 regulates ferroptotic cell death in cancer cells.85
345112902021Association of BCAT2 and BCKDH polymorphisms with clinical, anthropometric and biochemical parameters in young adults.2
330978332021Branched-chain amino acid aminotransferase 2 regulates ferroptotic cell death in cancer cells.85
345112902021Association of BCAT2 and BCKDH polymorphisms with clinical, anthropometric and biochemical parameters in young adults.2
319291812020Crystal structure of an oxidized mutant of human mitochondrial branched-chain aminotransferase.2
320298962020BCAT2-mediated BCAA catabolism is critical for development of pancreatic ductal adenocarcinoma.76
324675622020Acetylation promotes BCAT2 degradation to suppress BCAA catabolism and pancreatic cancer growth.42
319291812020Crystal structure of an oxidized mutant of human mitochondrial branched-chain aminotransferase.2
320298962020BCAT2-mediated BCAA catabolism is critical for development of pancreatic ductal adenocarcinoma.76

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/haematological-explorer/humanGenome