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BCAT2 Gene(Protein Coding)

Branched Chain Amino Acid Transaminase 2

GCID:
GC19M048795
GIFtS:
64
Genes Participants
UDN Logo

Aliases for BCAT2 Gene

Aliases for BCAT2 Gene

  • Branched Chain Amino Acid Transaminase 2 2 3
  • Branched Chain Amino-Acid Transaminase 2, Mitochondrial 3 5
  • Branched Chain Aminotransferase 2, Mitochondrial 2 3
  • Placental Protein 18 3 4
  • EC 2.6.1.42 4 63
  • BCATM 3 4
  • PP18 3 4
  • BCT2 3 4
  • 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 Hyperleucine-Isoleucinemia and Maple Syrup Urine Disease, Type Ii. Among its related pathways are Pantothenate and CoA biosynthesis and Glucose / Energy Metabolism. 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 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

Products:

  1. Regulatory Element

Regulatory Elements for BCAT2 Gene

Enhancers for BCAT2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BCAT2 on UCSC Golden Path with GeneCards custom track

Promoters for BCAT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BCAT2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the BCAT2 gene promoter:

Genomic Location for BCAT2 Gene

Chromosome:
19
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

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 Structure • Gene Density

RefSeq DNA sequence for BCAT2 Gene

Proteins for BCAT2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for BCAT2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for BCAT2 Gene

O15382:

Post-translational modifications for BCAT2 Gene

  • Ubiquitination at Lys 246 and Lys 321
  • Modification sites at PhosphoSitePlus

Other Protein References for BCAT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BCAT2 (BCAT2)

Domains & Families for BCAT2 Gene

Gene Families for BCAT2 Gene

HGNC:

Protein Domains for BCAT2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for BCAT2 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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:0052656 L-isoleucine transaminase activity IEA --
genes like me logo Genes that share ontologies with BCAT2: view

Phenotypes for BCAT2 Gene

MGI mutant phenotypes for BCAT2:
inferred from 3 alleles
GenomeRNAi human phenotypes for BCAT2:
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

miRNA for BCAT2 Gene

miRTarBase miRNAs that target BCAT2

Inhibitory RNA Products

Flow Cytometry 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
Jensen Localization Image for BCAT2 Gene COMPARTMENTS Subcellular localization image for BCAT2 gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for BCAT2 Gene

Pathways & Interactions for BCAT2 Gene

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

Interacting Proteins for BCAT2 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000322991%0d%0a9606.ENSP00000443246%0d%0a9606.ENSP00000269980%0d%0a9606.ENSP00000359151%0d%0a9606.ENSP00000318351%0d%0a9606.ENSP00000205402%0d%0a
Selected Interacting proteins: ENSP00000322991 O15382-BCAT2_HUMAN for BCAT2 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for BCAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
GO:0009082 branched-chain amino acid biosynthetic process IEA --
GO:0034641 cellular nitrogen compound metabolic process TAS --
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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Isoleucine Approved Nutra Target 0
L-Leucine Approved Nutra Target 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 57
L-Valine Approved Nutra 0
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
  • (3R)-3-Methyl-2-oxopentanoate
  • (3R)-3-Methyl-2-oxopentanoic acid
  • (R)-3-methyl-2-oxopentanoate
  • (R)-3-methyl-2-oxopentanoic acid
  • (S)-3-methyl-2-oxopentanoate
 1460-34-0
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate
 328-50-7
genes like me logo Genes that share compounds with BCAT2: view

Transcripts for BCAT2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for BCAT2 Gene

(3) REFSEQ mRNAs :
(14) Additional mRNA sequences :
(330) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BCAT2 Gene

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

Inhibitory RNA Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
BCAT2

Expression for BCAT2 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for BCAT2 Gene

mRNA expression in normal human tissues for BCAT2 Gene
mRNA expression by BioGPS for BCAT2 GenemRNA expression by GTEx 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, 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 expression patterns with BCAT2: view

Protein tissue co-expression partners for BCAT2 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
 Mammalia BCAT2 35
  • 84.95 (n)
  • 83.93 (a)
BCAT2 36
  • 84 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia BCAT2 35
  • 86.3 (n)
  • 86.3 (a)
BCAT2 36
  • 60 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Bcat2 35
  • 81.29 (n)
  • 83.67 (a)
Bcat2 16
Bcat2 36
  • 83 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia BCAT2 35
  • 98.81 (n)
  • 98.72 (a)
BCAT2 36
  • 99 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Bcat2 35
  • 80.61 (n)
  • 81.38 (a)
platypus
(Ornithorhynchus anatinus)
 Mammalia BCAT2 36
  • 62 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia BCAT2 36
  • 67 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia bcat2 35
  • 64.6 (n)
  • 62.8 (a)
zebrafish
(Danio rerio)
 Actinopterygii bcat2 35
  • 62.25 (n)
  • 63.94 (a)
bcat2 36
  • 55 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta CG1673 37
  • 54 (a)
CG1673 36
  • 41 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea Y44A6D.5 37
  • 44 (a)
bcat-1 36
  • 44 (a)
 ManyToMany
Y44A6D.5 36
  • 42 (a)
 ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0A10307g 35
  • 49.81 (n)
  • 45.81 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes BAT1 35
  • 48.93 (n)
  • 46.22 (a)
BAT1 36
  • 41 (a)
 ManyToMany
BAT2 36
  • 44 (a)
 ManyToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons BCAT-2 35
  • 43.72 (n)
  • 32.1 (a)
rice
(Oryza sativa)
 Liliopsida Os03g0231600 35
  • 47.88 (n)
  • 34.55 (a)
bread mold
(Neurospora crassa)
 Ascomycetes NCU04754 35
  • 56.79 (n)
  • 46.54 (a)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes eca39 35
  • 52.75 (n)
  • 46.7 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.7238 36
  • 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

(1) 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
rs11548193 - 48,799,813(+) CGCGC(C/G)TGGGC reference, missense
rs837642 -- 48,804,742(+) ACTCA(A/G)CTGAA intron-variant
rs7257533 -- 48,795,582(+) AAATG(C/T)AGTCC intron-variant
rs12985962 -- 48,802,164(+) aatca(C/T)taggg intron-variant
rs66581317 -- 48,800,977(-) CAAAA(-/CAAAA)AAACA 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

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)

Relevant External Links for BCAT2 Gene

Human Gene Mutation Database (HGMD)
BCAT2

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

Disorders for BCAT2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for BCAT2 Gene - From: GeneTests and DISEASES

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

Relevant External Links for BCAT2

Genetic Association Database (GAD)
BCAT2
Human Genome Epidemiology (HuGE) Navigator
BCAT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BCAT2
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 R.K. … Hutson S.M. (Biochim. Biophys. Acta 1997) 2 3 4 23 67
  2. S-Nitrosoglutathione inactivation of the mitochondrial and cytosolic BCAT proteins: S-nitrosation and S-thiolation. (PMID: 19119849) Coles S.J. … Conway M.E. (Biochemistry 2009) 3 23
  3. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  4. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  5. Roles for cysteine residues in the regulatory CXXC motif of human mitochondrial branched chain aminotransferase enzyme. (PMID: 15182179) Conway M.E. … Hutson S.M. (Biochemistry 2004) 3 23

Products for BCAT2 Gene

Sources for BCAT2 Gene

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