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

Summary

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: mouse all
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Genomic context

Location:: 19q13.33

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (48795064..48811029, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (51790087..51806051, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (49298321..49314286, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: 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?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-isoleucine transaminase activity	IDA Inferred from Direct Assay more info	PubMed
enables L-leucine transaminase activity	IDA Inferred from Direct Assay more info	PubMed
enables L-leucine:2-oxoglutarate aminotransferase activity	IEA Inferred from Electronic Annotation more info
enables L-valine 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

Process	Evidence Code	Pubs
involved_in L-leucine 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
involved_in valine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in mitochondrial matrix	TAS Traceable Author Statement more info
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

EC 2.6.1.42

NP_001181.2

EC 2.6.1.42

NP_001271254.1

EC 2.6.1.42

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

NG_013003.1 RefSeqGene

Range

5035..21000

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
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 ...
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

48795064..48811029 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

51790087..51806051 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NR_028451.1: Suppressed sequence

Description

NR_028451.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.