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Aliases for BCAT2 Gene

Aliases for BCAT2 Gene

  • Branched Chain Amino-Acid Transaminase 2, Mitochondrial 2 3
  • BCT2 3 4 6
  • Branched Chain Aminotransferase 2, Mitochondrial 2 3
  • Placental Protein 18 3 4
  • EC 2.6.1.42 4 64
  • BCATM 3 4
  • PP18 3 4
  • Branched-Chain-Amino-Acid Aminotransferase, Mitochondrial 3
  • BCAT(M) 4
  • ECA40 4
  • BCAM 3

External Ids for BCAT2 Gene

Previous Symbols for BCAT2 Gene

  • BCT2

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, Mitochondrial) is a Protein Coding gene. Diseases associated with BCAT2 include hyperleucine-isoleucinemia. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include L-leucine transaminase activity and L-isoleucine transaminase activity. An important paralog of this gene is BCAT1.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCAT2 Gene

Genomics for BCAT2 Gene

Genomic Location for BCAT2 Gene

Start:
48,795,062 bp from pter
End:
48,811,063 bp from pter
Size:
16,002 bases
Orientation:
Minus strand

Genomic View for BCAT2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BCAT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCAT2 Gene

Regulatory Elements 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

Proteomics data for BCAT2 Gene at MOPED

Post-translational modifications for BCAT2 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys246, Lys321, Lys377, and Lys14

Other Protein References for BCAT2 Gene

Domains for BCAT2 Gene

Protein Domains for BCAT2 Gene

UniProtKB/Swiss-Prot:

BCAT2_HUMAN
Family:
  • Belongs to the class-IV pyridoxal-phosphate-dependent aminotransferase family.:
    • O15382
genes like me logo Genes that share domains with BCAT2: view

No data available for Gene Families for BCAT2 Gene

Function for BCAT2 Gene

Molecular function for BCAT2 Gene

GENATLAS Biochemistry: branched chain aminotransferase 2,cytosolic
UniProtKB/Swiss-Prot CatalyticActivity: L-leucine + 2-oxoglutarate = 4-methyl-2-oxopentanoate + L-glutamate
UniProtKB/Swiss-Prot CatalyticActivity: L-isoleucine + 2-oxoglutarate = (S)-3-methyl-2-oxopentanoate + L-glutamate
UniProtKB/Swiss-Prot CatalyticActivity: L-valine + 2-oxoglutarate = 3-methyl-2-oxobutanoate + L-glutamate
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

Enzyme Numbers (IUBMB) for BCAT2 Gene

Gene Ontology (GO) - Molecular Function for BCAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004084 branched-chain-amino-acid transaminase activity EXP --
GO:0052654 L-leucine transaminase activity IEA --
GO:0052655 L-valine transaminase activity IEA --
GO:0052656 L-isoleucine 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:

miRNA for BCAT2 Gene

miRTarBase miRNAs that target BCAT2

No data available for Transcription Factor Targeting 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
Jensen Localization Image for BCAT2 Gene COMPARTMENTS Subcellular localization image for BCAT2 gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for BCAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS 9165094
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with BCAT2: view

Pathways for BCAT2 Gene

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

Interacting Proteins for BCAT2 Gene

Gene Ontology (GO) - Biological Process for BCAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006549 isoleucine metabolic process --
GO:0006550 isoleucine catabolic process IEA --
GO:0006551 leucine metabolic process IEA --
GO:0006573 valine metabolic process IEA --
GO:0008152 metabolic process --
genes like me logo Genes that share ontologies with BCAT2: view

Compounds for BCAT2 Gene

(9) HMDB Compounds for BCAT2 Gene

Compound Synonyms Cas Number PubMed IDs
3-Methyl-2-oxovaleric acid
  • (r)-3-methyl-2-oxopentanoate
1460-34-0
Alpha-ketoisovaleric acid
  • 2-Ketoisovalerate
759-05-7
Famotidine
  • Amfamox
76824-35-6
L-Glutamic acid
  • (2S)-2-Aminopentanedioate
56-86-0
L-Isoleucine
  • (2S,3S)-2-Amino-3-methylpentanoate
73-32-5

(7) Drugbank Compounds for BCAT2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Alpha-ketoisovalerate
  • 2-Keto-3-methylbutyric acid
759-05-7 target
L-Glutamic Acid
  • (2S)-2-Aminopentanedioic acid
56-86-0 target
L-Isoleucine
  • (2S,3S)-2-Amino-3-methylpentanoic acid
73-32-5 target
L-Leucine
  • (2S)-2-Amino-4-methylpentanoic acid
61-90-5 target
N-[O-Phosphono-Pyridoxyl]-Isoleucine
target

(6) Novoseek inferred chemical compound relationships for BCAT2 Gene

Compound -log(P) Hits PubMed IDs
alpha-ketoisocaproate 72.9 1
leucine 59.9 1
isoleucine 56 1
aspartate 47.7 3
glutamate 27.7 3
genes like me logo Genes that share compounds with BCAT2: view

Transcripts for BCAT2 Gene

Unigene Clusters for BCAT2 Gene

Branched chain amino-acid transaminase 2, mitochondrial:
Representative Sequences:

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
ECgene alternative splicing isoforms for
BCAT2

Expression for BCAT2 Gene

mRNA expression in normal human tissues for BCAT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for BCAT2 Gene

SOURCE GeneReport for Unigene cluster for BCAT2 Gene Hs.512670

mRNA Expression by UniProt/SwissProt for BCAT2 Gene

O15382-BCAT2_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with BCAT2: view

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 36
  • 98.81 (n)
  • 98.72 (a)
BCAT2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BCAT2 36
  • 84.95 (n)
  • 83.93 (a)
BCAT2 37
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BCAT2 36
  • 86.3 (n)
  • 86.3 (a)
BCAT2 37
  • 60 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bcat2 36
  • 81.29 (n)
  • 83.67 (a)
Bcat2 16
Bcat2 37
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BCAT2 37
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bcat2 36
  • 80.61 (n)
  • 81.38 (a)
lizard
(Anolis carolinensis)
Reptilia BCAT2 37
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bcat2 36
  • 64.6 (n)
  • 62.8 (a)
zebrafish
(Danio rerio)
Actinopterygii bcat2 36
  • 62.25 (n)
  • 63.94 (a)
bcat2 37
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1673 37
  • 41 (a)
OneToMany
CG1673 38
  • 54 (a)
worm
(Caenorhabditis elegans)
Secernentea bcat-1 37
  • 44 (a)
ManyToMany
Y44A6D.5 37
  • 42 (a)
ManyToMany
Y44A6D.5 38
  • 44 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BAT1 36
  • 48.93 (n)
  • 46.22 (a)
BAT1 37
  • 41 (a)
ManyToMany
BAT2 37
  • 44 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A10307g 36
  • 49.81 (n)
  • 45.81 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons BCAT-2 36
  • 43.72 (n)
  • 32.1 (a)
rice
(Oryza sativa)
Liliopsida Os03g0231600 36
  • 47.88 (n)
  • 34.55 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU04754 36
  • 56.79 (n)
  • 46.54 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes eca39 36
  • 52.75 (n)
  • 46.7 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7238 37
  • 53 (a)
OneToMany
Species with no ortholog for BCAT2:
  • 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)

Paralogs for BCAT2 Gene

Paralogs for BCAT2 Gene

Selected SIMAP similar genes for BCAT2 Gene using alignment to 6 proteins:

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

Variants for BCAT2 Gene

Sequence variations from dbSNP and Humsavar for BCAT2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs487703 -- 48,808,687(-) acctc(C/T)gcctc intron-variant
rs491459 -- 48,808,273(+) AGAGA(C/G)ACAAA intron-variant
rs493841 -- 48,798,620(+) CTCTG(C/T)GAAAC intron-variant
rs521398 -- 48,807,360(+) CTGGA(A/C/G/T)ATCAG intron-variant
rs526744 -- 48,797,348(+) GGCAG(C/T)CTGGT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv9739 CNV Gain+Loss 18304495
nsv833855 CNV Loss 17160897
esv2677313 CNV Deletion 23128226

Relevant External Links for BCAT2 Gene

HapMap Linkage Disequilibrium report
BCAT2

Disorders for BCAT2 Gene

Relevant External Links for BCAT2

Genetic Association Database (GAD)
BCAT2
Human Genome Epidemiology (HuGE) Navigator
BCAT2
genes like me logo Genes that share disorders with BCAT2: view

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

Publications for BCAT2 Gene

  1. Cloning of the rat and human mitochondrial branched chain aminotransferases (BCATm). (PMID: 9165094) Bledsoe R.K. … Hutson S.M. (Biochim. Biophys. Acta 1997) 2 3 4 23
  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 N.G. … Bohn H. (Placenta 2001) 3 4 23
  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. (J. Biol. Chem. 1996) 3 4 23
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for BCAT2 Gene

Sources for BCAT2 Gene

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