• Gene id: 587

Gene Summary

• Gene Symbol: BCAT2   Gene   UCSC   Ensembl
• Aliases: BCAM, BCATM, BCT2, HVLI, PP18
• Gene name: branched chain amino acid transaminase 2
• Alternate names: branched-chain-amino-acid aminotransferase, mitochondrial, branched chain amino-acid transaminase 2, mitochondrial, branched chain aminotransferase 2, mitochondrial, placental protein 18,
• Gene location: 19q13.33 (48811028: 48795063)     Exons: 13     NC_000019.10
• Gene summary(Entrez): 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 en
• OMIM: 602832

Protein Summary

• Protein general information: O15382  
  • Name: Branched chain amino acid aminotransferase, mitochondrial (BCAT(m)) (EC 2.6.1.42) (Placental protein 18) (PP18)
  • Length: 392  
  • Mass: 44288
  • Tissue specificity: Ubiquitous.
• Sequence:

  MAAAALGQIWARKLLSVPWLLCGPRRYASSSFKAADLQLEMTQKPHKKPGPGEPLVFGKTFTDHMLMVEWNDKGW
  GQPRIQPFQNLTLHPASSSLHYSLQLFEGMKAFKGKDQQVRLFRPWLNMDRMLRSAMRLCLPSFDKLELLECIRR
  LIEVDKDWVPDAAGTSLYVRPVLIGNEPSLGVSQPTRALLFVILCPVGAYFPGGSVTPVSLLADPAFIRAWVGGV
  GNYKLGGNYGPTVLVQQEALKRGCEQVLWLYGPDHQLTEVGTMNIFVYWTHEDGVLELVTPPLNGVILPGVVRQS
  LLDMAQTWGEFRVVERTITMKQLLRALEEGRVREVFGSGTACQVCPVHRILYKDRNLHIPTMENGPELILRFQKE
  LKEIQYGIRAHEWMFPV

• Structural information:
  • Interpro: IPR001544  IPR018300  IPR036038  IPR005786  IPR033939  
  • Prosite: PS00770
  • CDD: cd01557
  • PDB: 1EKF 1EKP 1EKV 1KT8 1KTA 2A1H 2HDK 2HG8 2HGW 2HGX 2HHF 5BWR 5BWT 5BWU 5BWV 5BWW 5BWX 5CR5 5HNE 5I5S 5I5T 5I5U 5I5V 5I5W 5I5X 5I5Y 5I60 5MPR 6PRX
  • PDBsum: 1EKF 1EKP 1EKV 1KT8 1KTA 2A1H 2HDK 2HG8 2HGW 2HGX 2HHF 5BWR 5BWT 5BWU 5BWV 5BWW 5BWX 5CR5 5HNE 5I5S 5I5T 5I5U 5I5V 5I5W 5I5X 5I5Y 5I60 5MPR 6PRX
  • STRING: ENSP00000322991
• Other Databases: GeneCards:  BCAT2  Malacards:  BCAT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009099	valine biosynthetic process	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0004084	branched-chain-amino-acid transaminase activity	IBA	molecular function
GO:0009098	leucine biosynthetic process	IBA	biological process
GO:0009081	branched-chain amino acid metabolic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0004084	branched-chain-amino-acid transaminase activity	IEA	molecular function
GO:0008652	cellular amino acid biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0008483	transaminase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0009082	branched-chain amino acid biosynthetic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0004084	branched-chain-amino-acid transaminase activity	TAS	molecular function
GO:0005739	mitochondrion	TAS	cellular component
GO:0009082	branched-chain amino acid biosynthetic process	TAS	biological process
GO:0004084	branched-chain-amino-acid transaminase activity	IEA	molecular function
GO:0052656	L-isoleucine transaminase activity	IEA	molecular function
GO:0052654	L-leucine transaminase activity	IEA	molecular function
GO:0052655	L-valine transaminase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0009083	branched-chain amino acid catabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004084	branched-chain-amino-acid transaminase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0006549	isoleucine metabolic process	IEA	biological process
GO:0009083	branched-chain amino acid catabolic process	IEA	biological process
GO:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:0006550	isoleucine catabolic process	IEA	biological process
GO:0006551	leucine metabolic process	IEA	biological process
GO:0006573	valine metabolic process	IEA	biological process
GO:0009081	branched-chain amino acid metabolic process	IEA	biological process
GO:0010817	regulation of hormone levels	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01230	Biosynthesis of amino acids
hsa00280	Valine, leucine and isoleucine degradation
hsa00270	Cysteine and methionine metabolism
hsa00770	Pantothenate and CoA biosynthesis
hsa01210	2-Oxocarboxylic acid metabolism
hsa00290	Valine, leucine and isoleucine biosynthesis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray