BCAT2 Gene Summary [Human]

This gene encodes a branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain amino acids leucine, isoleucine, and valine. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

Details

Type
Protein Coding
Official Symbol
BCAT2
Official Name
branched chain amino acid transaminase 2 [Source:HGNC Symbol;Acc:HGNC:977]
Ensembl ID
ENSG00000105552
Bio databases IDs NCBI: 587 Ensembl: ENSG00000105552
Aliases branched chain amino acid transaminase 2
Synonyms BCAM, BCATM, Bcat(m), BCT2, Branched-chain alpha-keto acid transporter, branched chain amino acid transaminase 2, branched chain aminotransferase 2, mitochondrial, Branched-chain α-keto acid transporter, Eca40, HVLI, mBcat, PP18
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BCAT2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • thyroid-hormone transaminase
  • PLPDE_IV
  • Amino-transferase class IV
  • branched-chain-amino-acid transaminase
  • enzyme
  • protein binding

Pathways

Biological processes and signaling networks where the BCAT2 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • epithelial cancer
  • idiopathic scoliosis
  • obesity
  • polyuria
  • hepatocellular carcinoma
  • liver cancer
  • hypervalinemia and hyperleucine-isoleucinemia
  • diabetes mellitus
regulated by
regulates
  • D-glucose
  • lipid
  • ketone body
  • alpha-ketoisocaproic acid
  • isoleucine
  • branched chain amino acids
  • leucine
  • Ins1
  • amino acids
  • THRB

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Nucleus
  • Mitochondria
  • mitochondrial matrix
  • nucleoplasm
  • plasma

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human BCAT2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of hormone levels
  • valine biosynthetic process
  • lipid metabolic process
  • leucine biosynthetic process
  • isoleucine catabolic process
  • branched chain family amino acid biosynthetic process

Cellular Component

Where in the cell the gene product is active
  • mitochondrial matrix
  • mitochondrion
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • L-leucine transaminase activity
  • L-valine transaminase activity
  • L-leucine:2-oxoglutarate aminotransferase activity
  • branched-chain-amino-acid transaminase activity
  • L-isoleucine transaminase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.