Seroatlas · Human Serome Atlas

BCAT2

Branched-chain-amino-acid aminotransferase, mitochondrial

Also known as: BCAM, BCAT2_HUMAN, BCATm, BCT2

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
O15382
Gene
BCAT2
Ensembl
ENSG00000105552
Chromosome
19
Canonical length
392 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Mitochondria
Quaternary structure
Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

392 residues, UniProt reviewed canonical sequence.

>O15382|BCAT2
     1  MAAAALGQIW ARKLLSVPWL LCGPRRYASS SFKAADLQLE MTQKPHKKPG PGEPLVFGKT
    61  FTDHMLMVEW NDKGWGQPRI QPFQNLTLHP ASSSLHYSLQ LFEGMKAFKG KDQQVRLFRP
   121  WLNMDRMLRS AMRLCLPSFD KLELLECIRR LIEVDKDWVP DAAGTSLYVR PVLIGNEPSL
   181  GVSQPTRALL FVILCPVGAY FPGGSVTPVS LLADPAFIRA WVGGVGNYKL GGNYGPTVLV
   241  QQEALKRGCE QVLWLYGPDH QLTEVGTMNI FVYWTHEDGV LELVTPPLNG VILPGVVRQS
   301  LLDMAQTWGE FRVVERTITM KQLLRALEEG RVREVFGSGT ACQVCPVHRI LYKDRNLHIP
   361  TMENGPELIL RFQKELKEIQ YGIRAHEWMF PV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BCAT2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.27
Highest tissue expression
200 nTPM

Expression across tissuesHPA

Tissue

  • choroid plexus: 200 nTPM
  • adrenal gland: 80 nTPM
  • pancreas: 74 nTPM
  • stomach: 63 nTPM
  • heart muscle: 60 nTPM
  • skeletal muscle: 56 nTPM

Single-cell type

  • bergmann glia: 331 nCPM
  • prostatic hillock cells: 123 nCPM
  • breast lactating cells: 113 nCPM
  • parietal cells: 104 nCPM
  • urothelial cells: 103 nCPM
  • granulosa cells: 90 nCPM

Immune cell

  • plasmacytoid DC: 29 nTPM
  • myeloid DC: 26 nTPM
  • T-reg: 25 nTPM
  • memory B-cell: 24 nTPM
  • naive B-cell: 20 nTPM
  • MAIT T-cell: 20 nTPM

Brain region

  • choroid plexus: 118 nTPM
  • cerebellum: 38 nTPM
  • thalamus: 30 nTPM
  • midbrain: 28 nTPM
  • hippocampal formation: 26 nTPM
  • white matter: 26 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BCAT2.

Disease | AllUniProt

Conditions BCAT2 is implicated in, by any mechanism.

  • Hypervalinemia and hyperleucine-isoleucinemia (HVLI) MIM:618850

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 178 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Hypervalinemia and hyperleucine-isoleucinemia

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.22
gnomAD pLI
0
gnomAD missense Z
0.98
DepMap mean gene effect
0.06
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BCAT2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads BCAT2 as an antibody target. Whether an autoantibody or antibody against BCAT2 could matter depends on whether native BCAT2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BCAT2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label BCAT2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/BCAT2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...