About   Help   FAQ
Bcat2
Gene Detail
Symbol

Name
ID
Bcat2
branched chain aminotransferase 2, mitochondrial
MGI:1276534
Synonyms
Bcat-2, Eca40
Feature Type
protein coding gene
Genetic Map
Chromosome 7
29.36 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr7:45570153-45589710 bp, + strand
From VEGA annotation of GRCm38

  19558 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:81684  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: branched-chain amino acid aminotransferase, BCAT1 type
Gene Tree: Bcat2

Human
homologs
Human Homolog BCAT2, branched chain amino-acid transaminase 2, mitochondrial
NCBI Gene ID 587
neXtProt AC  NX_O15382
Human Synonyms  BCAM, BCATM, BCT2, PP18
Human Chr (Location)  19q13; chr19:48795062-48811063 (-)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(209) : Chemically induced (ENU)(1) Gene trapped(204) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
The metabolism of branched chain amino acid is impaired in homozygous null mice, resulting in a phenotype similar to human maple syrup urine disease. Mutants exhibit a failure to thrive and die prematurely, though the severity of the symptoms can be ameliorated with a restricted diet.
 
Human Diseases Modeled Using Mouse Bcat2 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Bcat2 interacts with 60 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (2 records)
Data Summary: Results (98)    Tissues (97)    Images (14)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 96
RT-PCR 2
cDNA source data(99)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(101) cDNA(100) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000030313 (Evidence)
Ensembl Gene ModelENSMUSG00000030826 (Evidence)
Entrez Gene12036 (Evidence)
UniGene24210
DFCITC1577704, TC1682279
DoTSDT.101715142, DT.534390, DT.111011542
NIA Mouse Gene IndexU008081
EC2.6.1.42
Consensus CDS ProjectCCDS21252.1, CCDS57549.1
International Mouse Knockout Project StatusBcat2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000030313 VEGA Gene Model | MGI Sequence Detail 19558 C57BL/6J ±  kb
transcript OTTMUST00000075076 VEGA | MGI Sequence Detail 1771 Not Applicable 
polypeptide OTTMUSP00000039289 VEGA | MGI Sequence Detail 393 Not Applicable 

For the selected sequences
All sequences(70) RefSeq(12) UniProt(9)
Polymorphisms
SNPs within 2kb(189 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001544 Aminotransferase, class IV
InterPro IPR018300 Aminotransferase, class IV, conserved site
InterPro IPR005786 Branched-chain amino acid aminotransferase II
Protein Ontology PR:000004683 branched-chain-amino-acid aminotransferase, mitochondrial
References
(Earliest) J:40040 Bledsoe RK, et al., Cloning of the rat and human mitochondrial branched chain aminotransferases (BCATm). Biochim Biophys Acta. 1997 Apr 25;1339(1):9-13
(Latest) J:205327 Zimmerman HA, et al., Adipose transplant for inborn errors of branched chain amino acid metabolism in mice. Mol Genet Metab. 2013 Aug;109(4):345-53
All references(50)
Disease annotation references (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
12/09/2014
MGI 5.20
The Jackson Laboratory