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BCAT2 Gene

protein-coding GIFtS: 66
GCID: GC19M049298

Branched Chain Amino-Acid Transaminase 2, Mitochondrial

(Previous names: branched chain aminotransferase 2, mitochondrial)
(Previous symbol: BCT2)

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Branched Chain Amino-Acid Transaminase 2, Mitochondrial¹ ²		EC 2.6.1.42³ ⁸
BCT2¹ ² ³ ⁵		BCAM²
Branched Chain Aminotransferase 2, Mitochondrial¹ ²		Branched-Chain-Amino-Acid Aminotransferase, Mitochondrial²
Placental Protein 18² ³		BCAT(m)³
BCATM² ³		ECA40³
PP18² ³

External Ids:	HGNC: 977¹	Entrez Gene: 587²	Ensembl: ENSG00000105552⁷	OMIM: 113530⁵	UniProtKB: O15382³

Export aliases for BCAT2 gene to outside databases

Previous GC identifers: GC19M049857 GC19M049666 GC19M053974 GC19M053990 GC19M045677

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for BCAT2 Gene:

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)

GeneCards Summary for BCAT2 Gene:

BCAT2 (branched chain amino-acid transaminase 2, mitochondrial) is a protein-coding gene. Diseases associated with BCAT2 include hyperleucine-isoleucinemia, and hypervalinemia or hyperleucine-isoleucinemia. GO annotations related to this gene include L-leucine transaminase activity and L-isoleucine transaminase activity. An important paralog of this gene is BCAT1.

UniProtKB/Swiss-Prot: BCAT2_HUMAN, O15382

Function: Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine,

isoleucine, and valine. May also function as a transporter of branched chain alpha-keto acids

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000019.10 NC_018930.2 NT_011109.17

Regulatory elements:

Regulatory transcription factor binding sites in the BCAT2 gene promoter:
Max1 AhR ER-alpha HOXA3 AML1a Sp1 Brachyury AP-2gamma YY1 c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): BCAT2 promoter sequence

Search Chromatin IP Primers for BCAT2

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BCAT2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13 Ensembl cytogenetic band: 19q13.33 HGNC cytogenetic band: 19q13.33

BCAT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BCAT2 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M049298: view genomic region (about GC identifiers)

Start:	49,298,319 bp from pter	End:	49,314,320 bp from pter
Size:	16,002 bases	Orientation:	minus strand

ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for BCAT2

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: BCAT2_HUMAN, O15382 (See protein sequence)

Recommended Name: Branched-chain-amino-acid aminotransferase, mitochondrial precursor

Size: 392 amino acids; 44288 Da

Cofactor: Pyridoxal phosphate

Subunit: Homodimer

Sequence caution: Sequence=AAB53087.1; Type=Erroneous initiation;

Selected PDB 3D structures from and Proteopedia for BCAT2 (see all 11):

1EKF (3D)

1EKP (3D)

1EKV (3D)

1KT8 (3D)

1KTA (3D)

2A1H (3D)

Secondary accessions: B2RB87 O00269 Q96KG1 Q9BTB6 Q9BUU6

Alternative splicing: 2 isoforms: O15382-1 O15382-2

Explore the universe of human proteins at neXtProt for BCAT2: NX_O15382

Explore proteomics data for BCAT2 at MOPED

Post-translational modifications:

Ubiquitination² at Lys246, Lys321, Lys377

Modification sites at PhosphoSitePlus

Selected DME Specific Peptides for BCAT2 (O15382) (see all 7)

TEVGTMN

LHYSLQLFEG

VRLFRPWLNM

FTDHMLMVEW

See BCAT2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (3 alternative transcripts):

NP_001158245.1 NP_001181.2 NP_001271254.1

ENSEMBL proteins:

ENSP00000440973 ENSP00000385161 ENSP00000322991 ENSP00000469139 ENSP00000469651

ENSP00000470680 ENSP00000470216 ENSP00000472641

Reactome Protein details: O15382

BCAT2 Human Recombinant Protein Products:

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BCAT2 Antibody Products:

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BCAT2 Assay Products:

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	Cloud-Clone Corp. ELISAs for BCAT2 Cloud-Clone Corp. CLIAs for BCAT2

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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3 InterPro protein domains:

IPR018300 Aminotrans_IV_CS

IPR001544 Aminotrans_IV

IPR005786 B_amino_transII

Graphical View of Domain Structure for InterPro Entry O15382

ProtoNet protein and cluster: O15382

1 Blocks protein domain: IPB001544 Aminotransferase

UniProtKB/Swiss-Prot: BCAT2_HUMAN, O15382

Similarity: Belongs to the class-IV pyridoxal-phosphate-dependent aminotransferase family

BCAT2 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: BCAT2_HUMAN, O15382

Function: Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine,

isoleucine, and valine. May also function as a transporter of branched chain alpha-keto acids

Catalytic activity: L-leucine + 2-oxoglutarate = 4-methyl-2-oxopentanoate + L-glutamate

Catalytic activity: L-isoleucine + 2-oxoglutarate = (S)-3-methyl-2-oxopentanoate + L-glutamate

Catalytic activity: L-valine + 2-oxoglutarate = 3-methyl-2-oxobutanoate + L-glutamate

Genatlas biochemistry entry for BCAT2:

branched chain aminotransferase 2,cytosolic

Enzyme Number (IUBMB): EC 2.6.1.42¹ ²

Gene Ontology (GO): 5 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003824	catalytic activity	--	--
GO:0004084	branched-chain-amino-acid transaminase activity	EXP	--
GO:0052654	L-leucine transaminase activity	IEA	--
GO:0052655	L-valine transaminase activity	IEA	--
GO:0052656	L-isoleucine transaminase activity	IEA	--

BCAT2 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for BCAT2:

Increased S DNA content

8 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Bcat2):

adipose tissue	behavior/neurological	growth/size/body	homeostasis/metabolism	integument
mortality/aging	no phenotypic analysis	renal/urinary system

BCAT2 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Bcat2^tm1.2Clyn for BCAT2

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BCAT2

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BCAT2

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BCAT2

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BCAT2

miRNA Products:		miRTarBase miRNAs that target BCAT2: hsa-mir-32-5p (MIRT028382), hsa-mir-615-3p (MIRT040021), hsa-mir-484 (MIRT041917)

		Block miRNA regulation of human, mouse, rat BCAT2 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate BCAT2 (see all 26):
		hsa-miR-607 hsa-miR-125a-3p hsa-miR-1271 hsa-miR-938 hsa-miR-25 hsa-miR-9 hsa-miR-3122 hsa-miR-4325

		SwitchGear 3'UTR luciferase reporter plasmid: BCAT2 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for BCAT2
		Predesigned siRNA for gene silencing in human, mouse, rat BCAT2

Gene Editing
Products:

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		GenScript: all cDNA clones in your preferred vector (see all 2): BCAT2 (NM_001190)
		Sino Biological Human cDNA Clone for BCAT2
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		Browse ESI BIO Cell Lines and PureStem Progenitors for BCAT2

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCAT2

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

BCAT2_HUMAN, O15382: Isoform A: Mitochondrion

BCAT2_HUMAN, O15382: Isoform B: Cytoplasm

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
mitochondrion	5
cytosol	2
nucleus	1
plasma membrane	1

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Gene Ontology (GO): 2 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	TAS	9165094
GO:0005759	mitochondrial matrix	TAS	--

BCAT2 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for BCAT2 About (see all 7)

See pathways by source

SuperPath

Contained pathways About

Valine, leucine and isoleucine degradation

	Valine, leucine and isoleucine degradation	0.31			valine degradation I	0.00
	isoleucine degradation I	0.00

Metabolism

Metabolism

0.38

Metabolic pathways

0.38

Carbon metabolism

	Biosynthesis of amino acids	0.38			2-Oxocarboxylic acid metabolism	0.00
	Valine, leucine and isoleucine biosynthesis	0.00

Metabolism of amino acids and derivatives

Branched-chain amino acid catabolism

0.00

Metabolism of amino acids and derivatives

Pantothenate and CoA biosynthesis

Pantothenate and CoA biosynthesis

Pathways by source See SuperPaths
Show all pathways

1 Cell Signaling Technology (CST) Pathway for BCAT2

Glucose / Energy Metabolism

3 BioSystems Pathways for BCAT2

	isoleucine degradation I
	leucine degradation I
	valine degradation I

1 Reactome Pathway for BCAT2

Branched-chain amino acid catabolism

Selected Kegg Pathways (Kegg details for BCAT2) (see all 6):

	Valine, leucine and isoleucine degradation
	Valine, leucine and isoleucine biosynthesis
	Pantothenate and CoA biosynthesis
	Metabolic pathways
	2-Oxocarboxylic acid metabolism

BCAT2 for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler PCR Array including BCAT2:

Amino Acid Metabolism I in human mouse rat

Interactions:

Search GeneGlobe Interaction Network for BCAT2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for BCAT2 (O15382³ ENSP00000322991⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 28)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SLC2A4	P14672³	I2D: score=1
BCKDHA	ENSP00000269980⁴	STRING: ENSP00000269980
BCKDHB	ENSP00000318351⁴	STRING: ENSP00000318351
DBT	ENSP00000359151⁴	STRING: ENSP00000359151
DLD	ENSP00000205402⁴	STRING: ENSP00000205402

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Gene Ontology (GO): Selected biological process terms (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006549	isoleucine metabolic process	--	--
GO:0006550	isoleucine catabolic process	IEA	--
GO:0006551	leucine metabolic process	IEA	--
GO:0006573	valine metabolic process	IEA	--
GO:0008152	metabolic process	--	--

BCAT2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for BCAT2

9 HMDB Compounds for BCAT2 About this table

Compound	Synonyms	CAS #	PubMed Ids
3-Methyl-2-oxovaleric acid	(r)-3-methyl-2-oxopentanoate (see all 39)	1460-34-0	--
Alpha-ketoisovaleric acid	2-Ketoisovalerate (see all 45)	759-05-7	--
Famotidine	Amfamox (see all 83)	76824-35-6	--
L-Glutamic acid	(2S)-2-Aminopentanedioate (see all 49)	56-86-0	--
L-Isoleucine	(2S,3S)-2-Amino-3-methylpentanoate (see all 33)	73-32-5	--
L-Leucine	(2S)-2-Amino-4-methylpentanoate (see all 16)	61-90-5	--
L-Valine	(2S)-2-Amino-3-methylbutanoate (see all 27)	72-18-4	--
Oxoglutaric acid	2-Ketoglutarate (see all 9)	328-50-7	--
Pyridoxal 5'-phosphate	Apolon B6 (see all 27)	54-47-7	--

7 DrugBank Compounds for BCAT2 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
L-Leucine	(2S)-2-Amino-4-methylpentanoic acid (see all 16)	61-90-5	target	--	17139284 12670965 17016423
Alpha-ketoisovalerate	2-Keto-3-methylbutyric acid (see all 9)	759-05-7	target	--	17139284 17016423
L-Glutamic Acid	(2S)-2-Aminopentanedioic acid (see all 15)	56-86-0	target	--	17139284 17016423
N-[O-Phosphono-Pyridoxyl]-Isoleucine	--	--	target	--	17139284 17016423
Pyridoxal Phosphate	Codecarboxylase (see all 9)	54-47-7	target	cofactor	17139284 17016423
Pyridoxamine-5'-Phosphate	--	--	target	--	17139284 17016423
L-Isoleucine	(2S,3S)-2-Amino-3-methylpentanoic acid (see all 11)	73-32-5	target	--	12670965

6 Novoseek inferred chemical compound relationships for BCAT2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
alpha-ketoisocaproate	72.9	2	11018671 (1)
leucine	59.9	1	11018671 (1)
isoleucine	56	1	19858196 (1)
aspartate	47.7	3	11018671 (1), 17064071 (1), 12167474 (1)
glutamate	27.7	4	19858196 (2), 11018671 (1)
cysteine	26.2	2	11018671 (1), 15182179 (1)

BCAT2 for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for BCAT2 gene (3 alternative transcripts):

NM_001164773.1 NM_001190.3 NM_001284325.1

Unigene Cluster for BCAT2:

Branched chain amino-acid transaminase 2, mitochondrial

Hs.512670 [show with all ESTs]

Unigene Representative Sequence: NR_028450

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000545387(uc002pkt.3 uc010emi.2) ENST00000402551(uc002pks.3 uc002pku.1 uc010emj.2)

ENST00000316273(uc002pkq.4 uc002pkr.3 uc010emh.2) ENST00000593515

ENST00000597011 ENST00000599246 ENST00000599510 ENST00000598162 ENST00000595376

ENST00000601681 ENST00000601496 ENST00000596981

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA Products:		Block miRNA regulation of human, mouse, rat BCAT2 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate BCAT2 (see all 26):
		hsa-miR-607 hsa-miR-125a-3p hsa-miR-1271 hsa-miR-938 hsa-miR-25 hsa-miR-9 hsa-miR-3122 hsa-miR-4325

		SwitchGear 3'UTR luciferase reporter plasmid: BCAT2 3' UTR sequence

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		GenScript: all cDNA clones in your preferred vector (see all 2): BCAT2 (NM_001190)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for BCAT2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BCAT2

Primer Products:		OriGene qPCR primer pairs and template standards for BCAT2 OriGene qSTAR qPCR primer pairs in human, mouse for BCAT2
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat BCAT2
		QuantiTect SYBR Green Assays in human, mouse, rat BCAT2
		QuantiFast Probe-based Assays in human, mouse, rat BCAT2

Additional mRNA sequence:

AF268047.1 AF268048.1 AK093627.1 AK223522.1 AK309428.1 AK310101.1 AK310243.1 AK314548.1

BC001900.1 BC004243.1 NR_028450.1 NR_028451.1 U62739.1 U68418.1

18 DOTS entries:

DT.445228 DT.92446430 DT.100037848 DT.75102675 DT.100825451 DT.100825456 DT.100825458 DT.100825444

DT.75159344 DT.121495728 DT.92446419 DT.92446431 DT.100767029 DT.121495738 DT.121495754 DT.95347386

DT.100730037 DT.95134508

Selected AceView cDNA sequences (see all 330):

BQ642064 CR619463 CR618244 BU860243 BM020463 BM760815 BE740309 AL548608

BQ065811 BX448305 BE733353 BM479062 NM_001190 BQ063858 CB139163 AL556486

AL558311 BQ058887 CA428885 BU162281 CR626800 BG743083 CR607392 BE741534

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for BCAT2 (see all 14) About this scheme

ExUns:	1	^	2	^	3a	·	3b	·	3c	·	3d	^	4a	·	4b	·	4c	·	4d	^	5a	·	5b	^	6a	·	6b	^	7a	·	7b	^	8	^	9a	·	9b	·	9c	·	9d	^	10a	·	10b	^	11	^	12a	·	12b	^
SP1:					-		-		-		-		-												-																-		-
SP2:					-		-		-		-		-		-		-		-						-																-		-
SP3:											-		-		-		-		-						-																-		-
SP4:											-		-		-		-		-		-		-		-		-														-		-
SP5:													-		-		-		-						-																-		-

ExUns:	13a	·	13b	^	14
SP1:			-
SP2:			-
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for BCAT2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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BCAT2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TGGTTGCGAC

About this image

BCAT2 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 11) fully expand


Brain (Nervous System) fully expand to see all 3 entries
Cerebral Cortex

Neural Tube (Nervous System) fully expand to see all 2 entries
Metencephalon

Thymus (Hematopoietic System)
Thymus

Bone (Muscoskeletal System)
Membranous Facial Bones

Head Mesenchyme (Muscoskeletal System)
Branchial Arch 1

BCAT2 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

BCAT2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.512670

UniProtKB/Swiss-Prot: BCAT2_HUMAN, O15382

Tissue specificity: Ubiquitous

Pathway & Disease-focused RT² Profiler PCR Array including BCAT2:

Amino Acid Metabolism I in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for BCAT2 gene from Selected species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Bcat2^{1 , 5}	branched chain aminotransferase 2, mitochondrial^{1, 5}	81.29(n)¹ 83.67(a)¹		7 (29.36 cM)⁵ 12036¹ NM_009737.3¹ NP_033867.1¹ 45570153⁵
lizard (Anolis carolinensis)	Reptilia	BCAT2⁶	branched chain amino-acid transaminase 2, mitochon...	67(a)	1 ↔ 1	GL343355.1(794951-806638)
tropical clawed frog (Xenopus tropicalis)	Amphibia	bcat2¹	branched chain amino-acid transaminase 2, mitochondrial	64.6(n) 62.8(a)		448409 NM_001006739.1 NP_001006740.1
zebrafish (Danio rerio)	Actinopterygii	bcat2¹	branched chain aminotransferase 2, mitochondrial	62.25(n) 63.94(a)		436949 NM_001002676.1 NP_001002676.1
fruit fly (Drosophila melanogaster)	Insecta	CG1673³	branched-chain amino acid aminotransferase	54(a)		11F3 --
worm (Caenorhabditis elegans)	Secernentea	Y44A6D.5³	Aminotransferase class IV	44(a)		V(20793381-20795099) --
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	BAT1¹	BAT1	48.93(n) 46.22(a)		856615 NP_012078.3
thale cress (Arabidopsis thaliana)	eudicotyledons	BCAT-2¹	BCAT-2	43.72(n) 32.1(a)		837543 NM_001035938.2 NP_001031015.1
rice (Oryza sativa)	Liliopsida	Os03g0231600¹	Os03g0231600	47.88(n) 34.55(a)		4332151 NM_001055996.2 NP_001049461.1

ENSEMBL Gene Tree for BCAT2 (if available)
TreeFam Gene Tree for BCAT2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for BCAT2 gene

BCAT1²

1 SIMAP similar gene for BCAT2 using alignment to 6 protein entries: BCAT2_HUMAN (see all proteins):

BCAT1

BCAT2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs11310101^1,2	C	--	49301072(+)	`TTTTC-/TTTTTT`	4	--	int¹ trp³		0	--	--	--	--
rs71179051^1,2	C	--	49302048(-)	`AAAAA-/A/AA AAAAA`	4	--	int¹		1		NA	2
rs66581317^1,2	C	--	49304234(-)	`CAAAA-/CAAAA AAACA`	4	--	int¹		1		NA	2
rs71335820^1,2	C	--	49304495(+)	`CAGACT/-TTTTT`	4	--	int¹		1		NA	2
rs111578040^1,2	C,F	--	49307658(+)	`TAGCCG/AGGTGT`	4	--	int¹		1		CSA	2
rs113783485^1,2	C,F	--	49474474(+)	`ACCCTA/TTGGGC`	4	--	ds500¹ int¹		2		WA CSA	3
rs79209767^1,2	C,F	--	49474565(+)	`AGGCGG/AGGGAA`	4	--	ds500¹ int¹		1		WA	118
rs143850646^1,2	C	--	49474609(+)	`ATCGGA/GGCCTC`	4	--	ds500¹ int¹		0	--	--	--	--
rs148615766^1,2		--	49474654(+)	`GGTCCA/GGCCTA`	4	--	ds500¹ int¹		0	--	--	--	--
rs73587804^1,2	C,F	--	49474814(+)	`GCTGAC/GGAAGC`	4	--	ds500¹ int¹		2		WA CSA	3

HapMap Linkage Disequilibrium report for BCAT2 (49298319 - 49314320 bp)

Structural Variations
Database of Genomic Variants (DGV) 3 variations for BCAT2: About this table

Variant ID	Type	Subtype	PubMed ID
esv2677313	CNV	Deletion	23128226
nsv833855	CNV	Loss	17160897
nsv9739	CNV	Gain+Loss	18304495

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 113530 OMIM disorders: --

10 diseases for BCAT2:
About MalaCards

hyperleucine-isoleucinemia hypervalinemia or hyperleucine-isoleucinemia maple syrup urine disease labyrinthitis

pneumonia obesity tuberculosis thyroiditis

cerebritis neuronitis

BCAT2 for disorders About GeneDecksing

Genetic Association Database (GAD): BCAT2
Human Genome Epidemiology (HuGE) Navigator: BCAT2 (1 document)

Export disorders for BCAT2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for BCAT2 gene, integrated from 10 sources (see all 49):
(articles sorted by number of sources associating them with BCAT2)

Utopia: connect your pdf to the dynamic
world of online information

Cloning of the rat and human mitochondrial branched chain aminotransferases (BCATm). (PubMed id 9165094)^{1, 2, 3, 9} Bledsoe R.K.... Hutson S.M. (Biochim. Biophys. Acta 1997)
Molecular cloning and characterization of placental tissue protein 18 (PP18a)/human mitochondrial branched-chain aminotransferase (BCATm) and its novel alternatively spliced PP18b variant. (PubMed id 11170829)^{1, 2, 9} Than N.G.... Bohn H. (Placenta 2001)
Two yeast homologs of ECA39, a target for c-Myc regulation, code for cytosolic and mitochondrial branched-chain amino acid aminotransferases. (PubMed id 8702755)^{1, 2, 9} Eden A.... Benvenisty N. (J. Biol. Chem. 1996)
Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)^{1, 4} Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
Human mitochondrial branched chain aminotransferase isozyme: structural role of the CXXC center in catalysis. (PubMed id 17050531)^{1, 2} Yennawar N.H.... Hutson S.M. (J. Biol. Chem. 2006)
Structural determinants for branched-chain aminotransferase isozyme- specific inhibition by the anticonvulsant drug gabapentin. (PubMed id 16141215)^{1, 2} Goto M....Hutson S.M. (J. Biol. Chem. 2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
Crystal structures of human mitochondrial branched chain aminotransferase reaction intermediates: ketimine and pyridoxamine phosphate forms. (PubMed id 12269802)^{1, 2} Yennawar N.H.... Hutson S.M. (Biochemistry 2002)
The structure of human mitochondrial branched-chain aminotransferase. (PubMed id 11264579)^{1, 2} Yennawar N.H.... Farber G.K. (Acta Crystallogr. D 2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 587	HGNC: 977	AceView: BCAT2	Ensembl:ENSG00000105552	euGenes: HUgn587
ECgene: BCAT2	Kegg: 587	H-InvDB: BCAT2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for BCAT2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=BCAT2[genesymbol]

Intellectual Property for BCAT2 gene
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Patent Information for BCAT2 gene:
Search GeneIP for patents involving BCAT2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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BCAT2 Gene

Branched Chain Amino-Acid Transaminase 2, Mitochondrial

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BCAT2 Gene

Branched Chain Amino-Acid Transaminase 2, Mitochondrial

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