About   Help   FAQ
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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:45219773-45239134 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 29.36 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    185 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1276534
 protein coding gene Chr7:45219577-45239135 (+)
129S1/SvImJ MGP_129S1SvImJ_G0032231
 protein coding gene Chr7:45864752-45884149 (+)
A/J MGP_AJ_G0032210
 protein coding gene Chr7:44960703-44983315 (+)
AKR/J MGP_AKRJ_G0032146
 protein coding gene Chr7:46211518-46233059 (+)
BALB/cJ MGP_BALBcJ_G0032222
 protein coding gene Chr7:44956318-44975938 (+)
C3H/HeJ MGP_C3HHeJ_G0031937
 protein coding gene Chr7:46700929-46721182 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032714
 protein coding gene Chr7:48123207-48142576 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029728
 protein coding gene Chr7:47505499-47526350 (+)
CAST/EiJ MGP_CASTEiJ_G0031266
 protein coding gene Chr7:38121481-38153407 (+)
CBA/J MGP_CBAJ_G0031902
 protein coding gene Chr7:49717132-49740779 (+)
DBA/2J MGP_DBA2J_G0032060
 protein coding gene Chr7:44625514-44644779 (+)
FVB/NJ MGP_FVBNJ_G0032010
 protein coding gene Chr7:44400829-44434555 (+)
LP/J MGP_LPJ_G0032138
 protein coding gene Chr7:46567806-46590991 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0032048
 protein coding gene Chr7:48390065-48426441 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032730
 protein coding gene Chr7:45423379-45442716 (+)
PWK/PhJ MGP_PWKPhJ_G0030988
 protein coding gene Chr7:38007769-38028111 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030826
 protein coding gene Chr7:33444566-33466856 (+)
WSB/EiJ MGP_WSBEiJ_G0031383
 protein coding gene Chr7:45924607-45946176 (+)



Homology
more
  • Human Ortholog
    BCAT2, branched chain amino acid transaminase 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BCAT2, branched chain amino acid transaminase 2
  • Synonyms
    BCAM, BCATM, BCT2, HVLI, PP18
  • Links
    NCBI Gene ID: 587
    neXtProt AC: NX_O15382
    UniProt: O15382

  • Chr Location
    19q13.33; chr19:48795062-48811029 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Bcat2 mouse models

Human Disease Mouse Models
      
IDs
 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
less
  • Phenotype Summary
    34 phenotypes from 3 alleles in 3 genetic backgrounds
    19 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.
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
less
  • All GO Annotations
    35
  • GO References
    13
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    810
  • Tissues
    102
  • cDNA Data
    100
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12036 NCBI Gene Model | MGI Sequence Detail 19362 C57BL/6J ±  kb
    transcript NR_177994 RefSeq | MGI Sequence Detail 1929 ZRU/MplStud  
    polypeptide O35855 UniProt | EBI | MGI Sequence Detail 393 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • EC
      2.6.1.42
    • InterPro Domains
      IPR001544 Aminotransferase class IV
      IPR018300 Aminotransferase, class IV, conserved site
      IPR036038 Aminotransferase-like, PLP-dependent enzymes
      IPR005786 Branched-chain amino acid aminotransferase II
      IPR043132 Branched-chain-amino-acid aminotransferase-like, C-terminal
      IPR043131 Branched-chain-amino-acid aminotransferase-like, N-terminal
      IPR033939 Branched-chain aminotransferase
    Molecular
    Reagents
    less
    • All nucleic 103
      cDNA 101
      Primer pair 2

      Microarray probesets 3
    References
    more
    • Summaries
      All 56
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 13
      Phenotypes 19
    • 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:341519 Portero V, et al., Chronically elevated branched chain amino acid levels are pro-arrhythmic. Cardiovasc Res. 2022 Jun 22;118(7):1742-1757
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory