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BCAT2 branched chain amino acid transaminase 2 [ Homo sapiens (human) ]

Gene ID: 587, updated on 14-Nov-2024

Summary

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Official Symbol
BCAT2provided by HGNC
Official Full Name
branched chain amino acid transaminase 2provided by HGNC
Primary source
HGNC:HGNC:977
See related
Ensembl:ENSG00000105552 MIM:113530; AllianceGenome:HGNC:977
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BCAM; BCT2; HVLI; PP18; BCATM
Summary
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 encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Expression
Ubiquitous expression in urinary bladder (RPKM 16.4), adrenal (RPKM 15.6) and 25 other tissues See more
Orthologs
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Genomic context

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See BCAT2 in Genome Data Viewer
Location:
19q13.33
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (48795064..48811029, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (51790087..51806051, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49298321..49314286, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene FGF21/FUT1 promoter region Neighboring gene fibroblast growth factor 21 Neighboring gene CRISPRi-FlowFISH-validated FUT1 regulatory element 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:49296757-49297257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14907 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:49299377-49300012 Neighboring gene RNA, U6 small nuclear 317, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49301825-49302433 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49302434-49303042 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49309749-49310420 Neighboring gene uncharacterized LOC105372432 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14908 Neighboring gene Sharpr-MPRA regulatory region 11839 Neighboring gene CRISPRi-FlowFISH-validated BCAT2 regulatory element Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49316517-49317128 Neighboring gene hydroxysteroid 17-beta dehydrogenase 14 Neighboring gene CRISPRi-FlowFISH-validated FTL regulatory element 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10904 Neighboring gene MPRA-validated peak3541 silencer Neighboring gene Sharpr-MPRA regulatory region 3566 Neighboring gene pleckstrin homology domain containing A4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10905

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Deficiency of BCAT2-mediated branched-chain amino acid catabolism promotes colorectal cancer development.
    Title: Deficiency of BCAT2-mediated branched-chain amino acid catabolism promotes colorectal cancer development.
  2. BCAT2 promotes melanoma progression by activating lipogenesis via the epigenetic regulation of FASN and ACLY expressions.
    Title: BCAT2 promotes melanoma progression by activating lipogenesis via the epigenetic regulation of FASN and ACLY expressions.
  3. Effect of the BCAT2 polymorphism (rs11548193) on plasma branched-chain amino acid concentrations after dietary intervention in subjects with obesity and insulin resistance.
    Title: Effect of the BCAT2 polymorphism (rs11548193) on plasma branched-chain amino acid concentrations after dietary intervention in subjects with obesity and insulin resistance.
  4. Branched-chain amino acid aminotransferase 2 regulates ferroptotic cell death in cancer cells.
    Title: Branched-chain amino acid aminotransferase 2 regulates ferroptotic cell death in cancer cells.
  5. Association of BCAT2 and BCKDH polymorphisms with clinical, anthropometric and biochemical parameters in young adults.
    Title: Association of BCAT2 and BCKDH polymorphisms with clinical, anthropometric and biochemical parameters in young adults.
  6. Acetylation promotes BCAT2 degradation to suppress BCAA catabolism and pancreatic cancer growth.
    Title: Acetylation promotes BCAT2 degradation to suppress BCAA catabolism and pancreatic cancer growth.
  7. The crystal structure of the oxidized form of the C318A variant of the human mitochondrial branched-chain aminotransferase was used to better understand the contributions of the individual cysteines and their oxidation states.
    Title: Crystal structure of an oxidized mutant of human mitochondrial branched-chain aminotransferase.
  8. BCAT2-mediated branched-chain amino acids catabolism is critical for the development of pancreatic ductal adenocarcinoma-harboring KRAS mutations.
    Title: BCAT2-mediated BCAA catabolism is critical for development of pancreatic ductal adenocarcinoma.
  9. Skeletal muscle amino acid transporter and BCAT2 expression prior to and following interval running or resistance exercise in mode-specific trained males.
    Title: Skeletal muscle amino acid transporter and BCAT2 expression prior to and following interval running or resistance exercise in mode-specific trained males.
  10. Data suggest that both oncogenic mutations and cancer tissue-of-origin influence BCAA (branched-chain amino acid) metabolism in neoplastic tissue and neoplastic expression of cytosolic BCAT1 and mitochondrial BCAT2. (BCAT = branched-chain-amino-acid transaminase) [REVIEW]
    Title: Branched-chain amino acid metabolism in cancer.
Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hypervalinemia and hyperleucine-isoleucinemia
MedGen: C5394277 OMIM: 618850 GeneReviews: Not available
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Variation

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See Variation Viewer (GRCh37.p13)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables L-isoleucine-2-oxoglutarate transaminase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables L-leucine-2-oxoglutarate transaminase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables L-valine-2-oxoglutarate transaminase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables branched-chain-amino-acid transaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in L-leucine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in L-valine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in branched-chain amino acid biosynthetic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
  
involved_in isoleucine catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of hormone levels IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
branched-chain-amino-acid aminotransferase, mitochondrial
Names
branched chain amino-acid transaminase 2, mitochondrial
branched chain aminotransferase 2, mitochondrial
placental protein 18
NP_001158245.1
NP_001181.2
NP_001271254.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013003.1 RefSeqGene

    Range
    5035..21000
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164773.2 → NP_001158245.1  branched-chain-amino-acid aminotransferase, mitochondrial isoform b

    See identical proteins and their annotated locations for NP_001158245.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b) lacks two alternate in-frame exons in the 5' coding region, compared to variant a. The resulting isoform (b), also known as PP18b, lacks an internal segment near the N-terminus, compared to isoform a, which disrupts the transit peptide. This isoform is found in the cytosol.
    Source sequence(s)
    AF268048, DA129578
    Consensus CDS
    CCDS54290.1
    UniProtKB/TrEMBL
    M0QZP4
    Related
    ENSP00000440973.1, ENST00000545387.6
    Conserved Domains (1) summary
    cd01557
    Location:2 → 290
    BCAT_beta_family; BCAT_beta_family: Branched-chain aminotransferase catalyses the transamination of the branched-chain amino acids leusine, isoleucine and valine to their respective alpha-keto acids, alpha-ketoisocaproate, alpha-keto-beta-methylvalerate and ...

  2. NM_001190.4 → NP_001181.2  branched-chain-amino-acid aminotransferase, mitochondrial isoform a precursor

    See identical proteins and their annotated locations for NP_001181.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) encodes the longest isoform (a), also known as PP18a.
    Source sequence(s)
    BC001900, CA310873, DA129578
    Consensus CDS
    CCDS12735.1
    UniProtKB/Swiss-Prot
    B2RB87, O00269, O15382, Q96KG1, Q9BTB6, Q9BUU6
    UniProtKB/TrEMBL
    Q53EW7
    Related
    ENSP00000322991.5, ENST00000316273.11
    Conserved Domains (1) summary
    cd01557
    Location:87 → 382
    BCAT_beta_family; BCAT_beta_family: Branched-chain aminotransferase catalyses the transamination of the branched-chain amino acids leusine, isoleucine and valine to their respective alpha-keto acids, alpha-ketoisocaproate, alpha-keto-beta-methylvalerate and ...

  3. NM_001284325.2 → NP_001271254.1  branched-chain-amino-acid aminotransferase, mitochondrial isoform c

    See identical proteins and their annotated locations for NP_001271254.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (c) uses an alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region, compared to variant a. These differences cause translation initiation at a downstream start codon and result in an isoform (c) with a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AK093627, BC001900, BM802402, CA310873
    Consensus CDS
    CCDS74416.1
    UniProtKB/TrEMBL
    B3KSI3, Q53EW7
    Related
    ENSP00000385161.1, ENST00000402551.5
    Conserved Domains (1) summary
    cd01557
    Location:47 → 342
    BCAT_beta_family; BCAT_beta_family: Branched-chain aminotransferase catalyses the transamination of the branched-chain amino acids leusine, isoleucine and valine to their respective alpha-keto acids, alpha-ketoisocaproate, alpha-keto-beta-methylvalerate and ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    48795064..48811029 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    51790087..51806051 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_028451.1: Suppressed sequence

    Description
    NR_028451.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O15382.2 GenPept UniProtKB/Swiss-Prot:O15382

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