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] See more...

Aliases for BCAT2 Gene

Aliases for BCAT2 Gene

  • Branched Chain Amino Acid Transaminase 2 2 3 5
  • Branched-Chain-Amino-Acid Aminotransferase, Mitochondrial 3 4
  • Branched Chain Aminotransferase 2, Mitochondrial 2 3
  • Placental Protein 18 3 4
  • EC 2.6.1.42 4 52
  • BCATM 3 4
  • BCT2 3 4
  • PP18 3 4
  • Branched Chain Amino-Acid Transaminase 2, Mitochondrial 3
  • BCAT(M) 4
  • ECA40 4
  • BCAM 3

External Ids for BCAT2 Gene

Previous HGNC Symbols for BCAT2 Gene

  • BCT2

Previous GeneCards Identifiers for BCAT2 Gene

  • GC19M049857
  • GC19M049666
  • GC19M053974
  • GC19M053990
  • GC19M049298
  • GC19M045677

Summaries for BCAT2 Gene

Entrez Gene Summary for BCAT2 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]

GeneCards Summary for BCAT2 Gene

BCAT2 (Branched Chain Amino Acid Transaminase 2) is a Protein Coding gene. Diseases associated with BCAT2 include Maple Syrup Urine Disease. Among its related pathways are Valine, leucine and isoleucine degradation and Carbon metabolism. Gene Ontology (GO) annotations related to this gene include branched-chain-amino-acid transaminase activity and L-valine transaminase activity. An important paralog of this gene is BCAT1.

UniProtKB/Swiss-Prot Summary for BCAT2 Gene

  • Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine. May also function as a transporter of branched chain alpha-keto acids.

Additional gene information for BCAT2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BCAT2 Gene

Genomics for BCAT2 Gene

GeneHancer (GH) Regulatory Elements for BCAT2 Gene

Promoters and enhancers for BCAT2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BCAT2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BCAT2

Top Transcription factor binding sites by QIAGEN in the BCAT2 gene promoter:
  • AhR
  • AML1a
  • AP-2gamma
  • Brachyury
  • c-Myc
  • ER-alpha
  • HOXA3
  • Max1
  • Sp1
  • YY1

Genomic Locations for BCAT2 Gene

Genomic Locations for BCAT2 Gene
chr19:48,795,062-48,811,063
(GRCh38/hg38)
Size:
16,002 bases
Orientation:
Minus strand
chr19:49,298,319-49,314,320
(GRCh37/hg19)
Size:
16,002 bases
Orientation:
Minus strand

Genomic View for BCAT2 Gene

Genes around BCAT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCAT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCAT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCAT2 Gene

Proteins for BCAT2 Gene

  • Protein details for BCAT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15382-BCAT2_HUMAN
    Recommended name:
    Branched-chain-amino-acid aminotransferase, mitochondrial
    Protein Accession:
    O15382
    Secondary Accessions:
    • B2RB87
    • O00269
    • Q96KG1
    • Q9BTB6
    • Q9BUU6

    Protein attributes for BCAT2 Gene

    Size:
    392 amino acids
    Molecular mass:
    44288 Da
    Cofactor:
    Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAB53087.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BCAT2 Gene

    Alternative splice isoforms for BCAT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BCAT2 Gene

Selected DME Specific Peptides for BCAT2 Gene

O15382:
  • TEVGTMN
  • VRLFRPWLNM
  • LHYSLQLFEG
  • KLGGNYGPTV
  • FTDHMLMVEW
  • GCEQVLWLYGPDH
  • GTSLYVRPVLIGNEPSLGV

Post-translational modifications for BCAT2 Gene

  • Ubiquitination at Lys246, Lys321, and Lys377
  • Modification sites at PhosphoSitePlus

Domains & Families for BCAT2 Gene

Gene Families for BCAT2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for BCAT2 Gene

Blocks:
  • Aminotransferase, class IV
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BCAT2 Gene

GenScript: Design optimal peptide antigens:
  • Branched-chain-amino-acid aminotransferase (B3KSI3_HUMAN)
  • Placental protein 18 (BCAT2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O15382

UniProtKB/Swiss-Prot:

BCAT2_HUMAN :
  • Belongs to the class-IV pyridoxal-phosphate-dependent aminotransferase family.
Family:
  • Belongs to the class-IV pyridoxal-phosphate-dependent aminotransferase family.
genes like me logo Genes that share domains with BCAT2: view

Function for BCAT2 Gene

Molecular function for BCAT2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine. May also function as a transporter of branched chain alpha-keto acids.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + L-leucine = 4-methyl-2-oxopentanoate + L-glutamate; Xref=Rhea:RHEA:18321, ChEBI:CHEBI:16810, ChEBI:CHEBI:17865, ChEBI:CHEBI:29985, ChEBI:CHEBI:57427; EC=2.6.1.42;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + L-isoleucine = (S)-3-methyl-2-oxopentanoate + L-glutamate; Xref=Rhea:RHEA:24801, ChEBI:CHEBI:16810, ChEBI:CHEBI:29985, ChEBI:CHEBI:35146, ChEBI:CHEBI:58045; EC=2.6.1.42;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + L-valine = 3-methyl-2-oxobutanoate + L-glutamate; Xref=Rhea:RHEA:24813, ChEBI:CHEBI:11851, ChEBI:CHEBI:16810, ChEBI:CHEBI:29985, ChEBI:CHEBI:57762; EC=2.6.1.42;.
GENATLAS Biochemistry:
branched chain aminotransferase 2,cytosolic

Enzyme Numbers (IUBMB) for BCAT2 Gene

Phenotypes From GWAS Catalog for BCAT2 Gene

Gene Ontology (GO) - Molecular Function for BCAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004084 branched-chain-amino-acid transaminase activity IEA,IBA 21873635
GO:0005515 protein binding IPI 28514442
GO:0008483 transaminase activity IEA --
GO:0016740 transferase activity IEA --
GO:0052654 L-leucine transaminase activity IEA --
genes like me logo Genes that share ontologies with BCAT2: view
genes like me logo Genes that share phenotypes with BCAT2: view

Animal Models for BCAT2 Gene

MGI Knock Outs for BCAT2:

Animal Model Products

  • Taconic Biosciences Mouse Models for BCAT2

CRISPR Products

miRNA for BCAT2 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCAT2

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BCAT2 Gene

Localization for BCAT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCAT2 Gene

[Isoform A]: Mitochondrion.
[Isoform B]: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BCAT2 gene
Compartment Confidence
mitochondrion 5
plasma membrane 2
extracellular 2
nucleus 2
cytosol 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BCAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion TAS,IDA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with BCAT2: view

Pathways & Interactions for BCAT2 Gene

genes like me logo Genes that share pathways with BCAT2: view

Gene Ontology (GO) - Biological Process for BCAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006549 isoleucine metabolic process IEA --
GO:0006550 isoleucine catabolic process IEA --
GO:0006551 leucine metabolic process IEA --
GO:0006573 valine metabolic process IEA --
GO:0008652 cellular amino acid biosynthetic process IEA --
genes like me logo Genes that share ontologies with BCAT2: view

No data available for SIGNOR curated interactions for BCAT2 Gene

Drugs & Compounds for BCAT2 Gene

(11) Drugs for BCAT2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic acid Approved Nutra Full agonist, Agonist, Target 289
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 20
Famotidine Approved Pharma Histamine H2-receptor antagonist 73
Valine Approved Nutra 39
alpha-ketoisovalerate Experimental Pharma Target 0

(5) Additional Compounds for BCAT2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Methyl-2-oxovaleric acid
  • 2-oxo-3-Methyl-N-valeric acid
  • 2-oxo-3-Methylpentanoic acid
  • 2-oxo-3-Methylvalerate
  • 2-oxo-3-Methylvaleric acid
  • 2-Oxoisoleucine
1460-34-0
Ketoleucine
  • 2-oxo-4-METHYLPENTANOIC ACID
  • 2-Oxoisocaproate
  • 4-Methyl-2-oxopentanoate
  • 4-Methyl-2-oxovaleric acid
  • alpha-Ketoisocaproic acid
816-66-0
genes like me logo Genes that share compounds with BCAT2: view

Transcripts for BCAT2 Gene

mRNA/cDNA for BCAT2 Gene

3 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCAT2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BCAT2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11 ^ 12a · 12b ^
SP1: - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - - - - - -
SP5: - - - - - - -
SP6: - - - - - - - - - - -
SP7: - - - - - - - - - - - - - -
SP8: - - - - - - -
SP9: - - - - - - - - - - -
SP10: -
SP11:
SP12:
SP13: - - - - -
SP14: - - - -

ExUns: 13a · 13b ^ 14
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for BCAT2 Gene

GeneLoc Exon Structure for
BCAT2

Expression for BCAT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BCAT2 Gene

Protein differential expression in normal tissues from HIPED for BCAT2 Gene

This gene is overexpressed in Adrenal (9.1) and Skin (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BCAT2 Gene



Protein tissue co-expression partners for BCAT2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BCAT2

SOURCE GeneReport for Unigene cluster for BCAT2 Gene:

Hs.512670

mRNA Expression by UniProt/SwissProt for BCAT2 Gene:

O15382-BCAT2_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for BCAT2 Gene

  • Nervous system(4.5)
  • Heart(4.4)
  • Lung(4.4)
  • Skin(4.3)
  • Muscle(2.5)
  • Kidney(2)
  • Liver(2)
genes like me logo Genes that share expression patterns with BCAT2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BCAT2 Gene

Orthologs for BCAT2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for BCAT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BCAT2 31 30
  • 98.81 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BCAT2 31 30
  • 86.3 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BCAT2 31 30
  • 84.95 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Bcat2 17 31 30
  • 81.29 (n)
rat
(Rattus norvegicus)
Mammalia Bcat2 30
  • 80.61 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BCAT2 31
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BCAT2 31
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bcat2 30
  • 64.6 (n)
zebrafish
(Danio rerio)
Actinopterygii bcat2 31 30
  • 62.25 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1673 31 32
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea bcat-1 31
  • 44 (a)
ManyToMany
Y44A6D.5 31 32
  • 42 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A10307g 30
  • 49.81 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BAT1 31 30
  • 48.93 (n)
ManyToMany
BAT2 31
  • 44 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons BCAT-2 30
  • 43.72 (n)
rice
(Oryza sativa)
Liliopsida Os03g0231600 30
  • 47.88 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04754 30
  • 56.79 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7238 31
  • 53 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes eca39 30
  • 52.75 (n)
Species where no ortholog for BCAT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BCAT2 Gene

ENSEMBL:
Gene Tree for BCAT2 (if available)
TreeFam:
Gene Tree for BCAT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BCAT2: view image

Paralogs for BCAT2 Gene

Paralogs for BCAT2 Gene

(1) SIMAP similar genes for BCAT2 Gene using alignment to 6 proteins:

  • BCAT2_HUMAN
  • B3KSI3_HUMAN
  • M0QXF9_HUMAN
  • M0QZ10_HUMAN
  • M0QZP4_HUMAN
  • M0R2K7_HUMAN
genes like me logo Genes that share paralogs with BCAT2: view

Variants for BCAT2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BCAT2 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
719117 Likely Benign: not provided 48,796,704(-) C/A SYNONYMOUS_VARIANT
730073 Likely Benign: not provided 48,796,646(-) G/A MISSENSE_VARIANT
732830 Likely Benign: not provided 48,799,726(-) G/C MISSENSE_VARIANT
758883 Likely Benign: not provided 48,797,343(-) G/A INTRON_VARIANT
777503 Benign: not provided 48,806,519(-) G/C MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for BCAT2 Gene

Structural Variations from Database of Genomic Variants (DGV) for BCAT2 Gene

Variant ID Type Subtype PubMed ID
esv2677313 CNV deletion 23128226
esv3644600 CNV loss 21293372
esv3644601 CNV loss 21293372
nsv833855 CNV loss 17160897
nsv9739 CNV gain+loss 18304495

Variation tolerance for BCAT2 Gene

Residual Variation Intolerance Score: 66.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.46; 54.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BCAT2 Gene

Human Gene Mutation Database (HGMD)
BCAT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCAT2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCAT2 Gene

Disorders for BCAT2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BCAT2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
maple syrup urine disease
  • dihydrolipoamide dehydrogenase deficiency
- elite association - COSMIC cancer census association via MalaCards
Search BCAT2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BCAT2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BCAT2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BCAT2 Gene

Publications for BCAT2 Gene

  1. Cloning of the rat and human mitochondrial branched chain aminotransferases (BCATm). (PMID: 9165094) Bledsoe RK … Hutson SM (Biochimica et biophysica acta 1997) 2 3 4 23 54
  2. Molecular cloning and characterization of placental tissue protein 18 (PP18a)/human mitochondrial branched-chain aminotransferase (BCATm) and its novel alternatively spliced PP18b variant. (PMID: 11170829) Than NG … Bohn H (Placenta 2001) 3 4 23 54
  3. Two yeast homologs of ECA39, a target for c-Myc regulation, code for cytosolic and mitochondrial branched-chain amino acid aminotransferases. (PMID: 8702755) Eden A … Benvenisty N (The Journal of biological chemistry 1996) 3 4 23 54
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  5. S-Nitrosoglutathione inactivation of the mitochondrial and cytosolic BCAT proteins: S-nitrosation and S-thiolation. (PMID: 19119849) Coles SJ … Conway ME (Biochemistry 2009) 3 23 54

Products for BCAT2 Gene

Sources for BCAT2 Gene