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Bcat2 Gene Detail
Summary
  • Symbol
    Bcat2
  • Name
    branched chain aminotransferase 2, mitochondrial
  • Synonyms
    Bcat-2, Eca40
  • Feature Type
    protein coding gene
  • IDs
    MGI:1276534
    NCBI Gene: 12036
Location & Maps
more
  • Sequence Map
    Chr7:45570153-45589699 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      19547 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 29.36 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    BCAT2, branched chain amino acid transaminase 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    BCAT2, branched chain amino acid transaminase 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BCAM, BCATM, BCT2, PP18
  • Links
    NCBI Gene ID: 587
    neXtProt AC: NX_O15382

  • Chr Location
    19q13; chr19:48795062-48811063 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Bcat2 mouse models

Human Disease Mouse Models
       Maple Syrup Urine Disease; MSUD   OMIM: 248600 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    34 phenotypes from 2 alleles in 2 genetic backgrounds
    16 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    209
  • Chemically induced (ENU)
    1
  • Gene trapped
    204
  • Targeted
    4
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000030826 Ensembl Gene Model | MGI Sequence Detail 19547 C57BL/6J ±  kb
transcript ENSMUST00000033098 Ensembl | MGI Sequence Detail 1760 Not Applicable  
polypeptide ENSMUSP00000033098 Ensembl | MGI Sequence Detail 393 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    190 from dbSNP Build 142
Protein
Information
less
  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000004683 branched-chain-amino-acid aminotransferase, mitochondrial
  • EC
  • InterPro Domains
    IPR001544 Aminotransferase class IV
    IPR018300 Aminotransferase, class IV, conserved site
    IPR005786 Branched-chain amino acid aminotransferase II
Molecular
Reagents
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  • All nucleic 101
    cDNA 100
    Primer pair 1

    Microarray probesets 3
References
more
  • Summaries
    All 48
    Developmental Gene Expression 2
    Diseases 1
    Gene Ontology 11
    Phenotypes 16
  • 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:227507 Lynch CJ, et al., Global deletion of BCATm increases expression of skeletal muscle genes associated with protein turnover. Physiol Genomics. 2015 Nov;47(11):569-80

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory