BCAT2: Branched Chain Amino Acid Transaminase 2
Mitochondrial enzyme in BCAA metabolism and disease
Gene Information Card
| Symbol | BCAT2 |
|---|---|
| Full Name | Branched Chain Amino Acid Transaminase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 587 ncbi.nlm.nih.gov/gene/587 |
| Ensembl ID | ENSG00000105552 |
| UniProt ID | O15382 |
| OMIM ID | 113530 |
| HGNC ID | 977 |
| Aliases | BCAM, BCT2, BCATm, hBCATm |
Description
BCAT2 encodes the mitochondrial branched-chain amino acid transaminase (BCATm), a key enzyme in the catabolism of branched-chain amino acids (leucine, isoleucine, valine). It catalyzes the reversible transamination of BCAAs to their corresponding α-keto acids, playing a critical role in nitrogen shuttling and energy metabolism. The enzyme is widely expressed in tissues such as skeletal muscle, heart, and kidney, and its dysfunction is linked to metabolic disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Maple Syrup Urine Disease (MSUD) | Deficiency in BCAT2 leads to accumulation of BCAAs and their keto acids, causing neurotoxicity. | OMIM #248600; ClinVar pathogenic variants |
| Hypervalinemia | Impaired valine transamination due to BCAT2 mutations results in elevated valine levels. | OMIM #277100; case reports |
| Colorectal Cancer | BCAT2 overexpression promotes BCAA utilization and tumor growth. | COSMIC; PMID: 30936460 |
| Pancreatic Cancer | BCAT2 upregulation supports metabolic reprogramming and proliferation. | COSMIC; PMID: 32025036 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 28.5 | High |
| Heart | 22.3 | High |
| Kidney | 18.7 | High |
| Liver | 6.2 | Medium |
| Brain | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 8.9 | Moderate expression |
| HepG2 | 5.4 | Low expression |
| K562 | 3.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon; likely loss of function |
| c.335G>A (p.Arg112Gln) | Missense | 0.01% | Reduced enzyme activity; associated with MSUD |
| c.746C>T (p.Pro249Leu) | Missense | 0.005% | Impaired catalytic function; reported in hypervalinemia |
| c.1022T>C (p.Leu341Pro) | Missense | 0.002% | Structural destabilization; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most BCAT2 mutations (e.g., p.Arg112Gln, p.Pro249Leu) reduce or abolish transaminase activity, leading to BCAA accumulation and metabolic disease.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in BCAT2.
Dominant Negative (DN)
No dominant-negative mutations described; BCAT2 functions as a homodimer, but recessive inheritance is typical.
View complete mutation data：
Gene Ontology (GO)
| • branched-chain-amino-acid transaminase activity (GO:0004084) | • mitochondrion (GO:0005739) |
| • branched-chain amino acid catabolic process (GO:0009083) | • cellular amino acid metabolic process (GO:0006520) |
| • oxidation-reduction process (GO:0055114) |
Pathways
• Branched-chain amino acid degradation (KEGG: hsa00280)
• Valine
• leucine and isoleucine degradation (Reactome: R-HSA-70895)
• Metabolism of amino acids and derivatives (Reactome: R-HSA-71291)
Protein Summary
BCAT2 is a 392-amino acid mitochondrial protein that forms a homodimer. It catalyzes the reversible transamination of BCAAs (leucine, isoleucine, valine) with α-ketoglutarate to produce glutamate and branched-chain α-keto acids. The enzyme requires pyridoxal phosphate (PLP) as a cofactor. BCAT2 is essential for nitrogen homeostasis and energy production in peripheral tissues. Its structure includes a PLP-binding domain and a dimerization interface. Dysregulation contributes to metabolic disorders and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BCAT2 Knockout HEK293 Cell Line | EDJ-KQ4126 | Human | 587 | Details Get a Quote |
| BCAT2 Knockout A-549 Cell Line | EDJ-KQ26533 | Human | 587 | Details Get a Quote |
| BCAT2 Knockout HCT 116 Cell Line | EDJ-KQ26534 | Human | 587 | Details Get a Quote |
| BCAT2 Knockout HeLa Cell Line | EDJ-KQ26535 | Human | 587 | Details Get a Quote |
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