ENSG00000105552


Homo sapiens

Features
Gene ID: ENSG00000105552
  
Biological name :BCAT2
  
Synonyms : BCAT2 / branched chain amino acid transaminase 2 / O15382
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: q13.33
Gene start: 48795062
Gene end: 48811029
  
Corresponding Affymetrix probe sets: 203576_at (Human Genome U133 Plus 2.0 Array)   215654_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000472641
Ensembl peptide - ENSP00000470216
Ensembl peptide - ENSP00000470680
Ensembl peptide - ENSP00000440973
Ensembl peptide - ENSP00000385161
Ensembl peptide - ENSP00000322991
Ensembl peptide - ENSP00000469139
Ensembl peptide - ENSP00000469651
NCBI entrez gene - 587     See in Manteia.
OMIM - 113530
RefSeq - NM_001164773
RefSeq - NM_001284325
RefSeq - NM_001190
RefSeq Peptide - NP_001181
RefSeq Peptide - NP_001158245
RefSeq Peptide - NP_001271254
swissprot - O15382
swissprot - B3KSI3
swissprot - M0QXF9
swissprot - M0QZ10
swissprot - M0QZP4
swissprot - M0R2K7
Ensembl - ENSG00000105552
  
Related genetic diseases (OMIM): 113530 - ?Hypervalinemia or hyperleucine-isoleucinemia
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bcat2ENSDARG00000054849Danio rerio
 Bcat2ENSMUSG00000030826Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
BCAT1 / P54687 / branched chain amino acid transaminase 1ENSG0000006098255


Protein motifs (from Interpro)
Interpro ID Name
 IPR001544  Aminotransferase class IV
 IPR005786  Branched-chain amino acid aminotransferase II
 IPR018300  Aminotransferase, class IV, conserved site
 IPR033939  Branched-chain aminotransferase
 IPR036038  Aminotransferase-like, PLP-dependent enzymes


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006549 isoleucine metabolic process IEA
 biological_processGO:0006550 isoleucine catabolic process IEA
 biological_processGO:0006551 leucine metabolic process IEA
 biological_processGO:0006573 valine metabolic process IEA
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0008652 cellular amino acid biosynthetic process IEA
 biological_processGO:0009081 branched-chain amino acid metabolic process IEA
 biological_processGO:0009082 branched-chain amino acid biosynthetic process IEA
 biological_processGO:0009083 branched-chain amino acid catabolic process IEA
 biological_processGO:0009098 leucine biosynthetic process IBA
 biological_processGO:0009099 valine biosynthetic process IBA
 biological_processGO:0010817 regulation of hormone levels IEA
 biological_processGO:1990830 cellular response to leukemia inhibitory factor IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion TAS
 cellular_componentGO:0005759 mitochondrial matrix TAS
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004084 branched-chain-amino-acid transaminase activity IEA
 molecular_functionGO:0008483 transaminase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0052654 L-leucine transaminase activity IEA
 molecular_functionGO:0052655 L-valine transaminase activity IEA
 molecular_functionGO:0052656 L-isoleucine transaminase activity IEA


Pathways (from Reactome)
Pathway description
Branched-chain amino acid catabolism


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000105552 BCAT2 / O15382 / branched chain amino acid transaminase 2  / complex






 

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