Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	587
Gene name	Branched chain amino acid transaminase 2
Gene symbol	BCAT2
Synonyms (NCBI Gene)	BCAMBCATMBCT2HVLIPP18
Chromosome	19
Chromosome location	19q13.33
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 en

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miRTarBase ID	miRNA	Experiments	Reference
MIRT028382	hsa-miR-32-5p	Sequencing	20371350
MIRT041917	hsa-miR-484	CLASH	23622248
MIRT040021	hsa-miR-615-3p	CLASH	23622248
MIRT728218	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT728217	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT028382	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT817824	hsa-miR-185	CLIP-seq
MIRT817825	hsa-miR-1912	CLIP-seq
MIRT817826	hsa-miR-29a	CLIP-seq
MIRT817827	hsa-miR-29b	CLIP-seq
MIRT817828	hsa-miR-29c	CLIP-seq
MIRT817829	hsa-miR-3065-3p	CLIP-seq
MIRT817830	hsa-miR-3176	CLIP-seq
MIRT817831	hsa-miR-362-5p	CLIP-seq
MIRT817832	hsa-miR-3713	CLIP-seq
MIRT817833	hsa-miR-3922-3p	CLIP-seq
MIRT817834	hsa-miR-4306	CLIP-seq
MIRT817835	hsa-miR-4488	CLIP-seq
MIRT817836	hsa-miR-4506	CLIP-seq
MIRT817837	hsa-miR-4508	CLIP-seq
MIRT817838	hsa-miR-4632	CLIP-seq
MIRT817839	hsa-miR-4644	CLIP-seq
MIRT817840	hsa-miR-4697-5p	CLIP-seq
MIRT817841	hsa-miR-4717-3p	CLIP-seq
MIRT817842	hsa-miR-4733-3p	CLIP-seq
MIRT817843	hsa-miR-4761-5p	CLIP-seq
MIRT817844	hsa-miR-500b	CLIP-seq
MIRT817845	hsa-miR-501-5p	CLIP-seq
MIRT817846	hsa-miR-548c-3p	CLIP-seq
MIRT817847	hsa-miR-95	CLIP-seq
MIRT817848	hsa-miR-1254	CLIP-seq
MIRT817849	hsa-miR-1256	CLIP-seq
MIRT817850	hsa-miR-125a-3p	CLIP-seq
MIRT817851	hsa-miR-1271	CLIP-seq
MIRT817852	hsa-miR-146a	CLIP-seq
MIRT817853	hsa-miR-146b-5p	CLIP-seq
MIRT817854	hsa-miR-182	CLIP-seq
MIRT817824	hsa-miR-185	CLIP-seq
MIRT817825	hsa-miR-1912	CLIP-seq
MIRT817855	hsa-miR-2116	CLIP-seq
MIRT817856	hsa-miR-25	CLIP-seq
MIRT817826	hsa-miR-29a	CLIP-seq
MIRT817827	hsa-miR-29b	CLIP-seq
MIRT817828	hsa-miR-29c	CLIP-seq
MIRT817829	hsa-miR-3065-3p	CLIP-seq
MIRT817857	hsa-miR-3116	CLIP-seq
MIRT817830	hsa-miR-3176	CLIP-seq
MIRT817858	hsa-miR-3184	CLIP-seq
MIRT817859	hsa-miR-32	CLIP-seq
MIRT817860	hsa-miR-363	CLIP-seq
MIRT817861	hsa-miR-367	CLIP-seq
MIRT817833	hsa-miR-3922-3p	CLIP-seq
MIRT817862	hsa-miR-3934	CLIP-seq
MIRT817863	hsa-miR-423-5p	CLIP-seq
MIRT817864	hsa-miR-4251	CLIP-seq
MIRT817834	hsa-miR-4306	CLIP-seq
MIRT817865	hsa-miR-4324	CLIP-seq
MIRT817866	hsa-miR-4325	CLIP-seq
MIRT817835	hsa-miR-4488	CLIP-seq
MIRT817867	hsa-miR-4492	CLIP-seq
MIRT817868	hsa-miR-4498	CLIP-seq
MIRT817869	hsa-miR-4505	CLIP-seq
MIRT817838	hsa-miR-4632	CLIP-seq
MIRT817870	hsa-miR-4642	CLIP-seq
MIRT817839	hsa-miR-4644	CLIP-seq
MIRT817871	hsa-miR-4677-5p	CLIP-seq
MIRT817840	hsa-miR-4697-5p	CLIP-seq
MIRT817872	hsa-miR-4731-5p	CLIP-seq
MIRT817842	hsa-miR-4733-3p	CLIP-seq
MIRT817873	hsa-miR-589	CLIP-seq
MIRT817874	hsa-miR-616	CLIP-seq
MIRT817875	hsa-miR-637	CLIP-seq
MIRT817876	hsa-miR-661	CLIP-seq
MIRT817877	hsa-miR-762	CLIP-seq
MIRT817878	hsa-miR-764	CLIP-seq
MIRT817879	hsa-miR-9	CLIP-seq
MIRT817880	hsa-miR-92a	CLIP-seq
MIRT817881	hsa-miR-92b	CLIP-seq
MIRT817882	hsa-miR-96	CLIP-seq
MIRT817826	hsa-miR-29a	CLIP-seq
MIRT817827	hsa-miR-29b	CLIP-seq
MIRT817828	hsa-miR-29c	CLIP-seq
MIRT817829	hsa-miR-3065-3p	CLIP-seq
MIRT817830	hsa-miR-3176	CLIP-seq
MIRT1941766	hsa-miR-3919	CLIP-seq
MIRT817833	hsa-miR-3922-3p	CLIP-seq
MIRT817842	hsa-miR-4733-3p	CLIP-seq
MIRT817846	hsa-miR-548c-3p	CLIP-seq
MIRT817847	hsa-miR-95	CLIP-seq
MIRT2180671	hsa-miR-122	CLIP-seq
MIRT817848	hsa-miR-1254	CLIP-seq
MIRT817850	hsa-miR-125a-3p	CLIP-seq
MIRT2180672	hsa-miR-1301	CLIP-seq
MIRT2180673	hsa-miR-1321	CLIP-seq
MIRT817852	hsa-miR-146a	CLIP-seq
MIRT817853	hsa-miR-146b-5p	CLIP-seq
MIRT817824	hsa-miR-185	CLIP-seq
MIRT817825	hsa-miR-1912	CLIP-seq
MIRT817826	hsa-miR-29a	CLIP-seq
MIRT817827	hsa-miR-29b	CLIP-seq
MIRT817828	hsa-miR-29c	CLIP-seq
MIRT817829	hsa-miR-3065-3p	CLIP-seq
MIRT817857	hsa-miR-3116	CLIP-seq
MIRT2180674	hsa-miR-3122	CLIP-seq
MIRT2180675	hsa-miR-3162-5p	CLIP-seq
MIRT817830	hsa-miR-3176	CLIP-seq
MIRT2180676	hsa-miR-3689a-3p	CLIP-seq
MIRT2180677	hsa-miR-3689c	CLIP-seq
MIRT2180678	hsa-miR-3913-5p	CLIP-seq
MIRT1941766	hsa-miR-3919	CLIP-seq
MIRT817833	hsa-miR-3922-3p	CLIP-seq
MIRT817862	hsa-miR-3934	CLIP-seq
MIRT817864	hsa-miR-4251	CLIP-seq
MIRT817834	hsa-miR-4306	CLIP-seq
MIRT817865	hsa-miR-4324	CLIP-seq
MIRT817866	hsa-miR-4325	CLIP-seq
MIRT817838	hsa-miR-4632	CLIP-seq
MIRT817839	hsa-miR-4644	CLIP-seq
MIRT817841	hsa-miR-4717-3p	CLIP-seq
MIRT817842	hsa-miR-4733-3p	CLIP-seq
MIRT2180679	hsa-miR-4739	CLIP-seq
MIRT2180680	hsa-miR-4756-5p	CLIP-seq
MIRT2180681	hsa-miR-5047	CLIP-seq
MIRT817846	hsa-miR-548c-3p	CLIP-seq
MIRT817873	hsa-miR-589	CLIP-seq
MIRT817874	hsa-miR-616	CLIP-seq
MIRT817876	hsa-miR-661	CLIP-seq
MIRT817878	hsa-miR-764	CLIP-seq
MIRT2180682	hsa-miR-938	CLIP-seq
MIRT817847	hsa-miR-95	CLIP-seq
MIRT817850	hsa-miR-125a-3p	CLIP-seq
MIRT817856	hsa-miR-25	CLIP-seq
MIRT817830	hsa-miR-3176	CLIP-seq
MIRT817859	hsa-miR-32	CLIP-seq
MIRT817860	hsa-miR-363	CLIP-seq
MIRT817861	hsa-miR-367	CLIP-seq
MIRT817833	hsa-miR-3922-3p	CLIP-seq
MIRT817862	hsa-miR-3934	CLIP-seq
MIRT817866	hsa-miR-4325	CLIP-seq
MIRT817841	hsa-miR-4717-3p	CLIP-seq
MIRT817878	hsa-miR-764	CLIP-seq
MIRT817880	hsa-miR-92a	CLIP-seq
MIRT817881	hsa-miR-92b	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004084	Function	Branched-chain-amino-acid transaminase activity	IBA
GO:0004084	Function	Branched-chain-amino-acid transaminase activity	IEA
GO:0004084	Function	Branched-chain-amino-acid transaminase activity	TAS	9165094
GO:0005515	Function	Protein binding	IPI	28514442, 29568061, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	9165094
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006549	Process	Isoleucine metabolic process	IEA
GO:0006550	Process	L-isoleucine catabolic process	IEA
GO:0006551	Process	L-leucine metabolic process	IEA
GO:0006573	Process	Valine metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0008483	Function	Transaminase activity	IEA
GO:0008652	Process	Amino acid biosynthetic process	IEA
GO:0009081	Process	Branched-chain amino acid metabolic process	IEA
GO:0009081	Process	Branched-chain amino acid metabolic process	IEA
GO:0009082	Process	Branched-chain amino acid biosynthetic process	IEA
GO:0009082	Process	Branched-chain amino acid biosynthetic process	TAS	8702755
GO:0009083	Process	Branched-chain amino acid catabolic process	IEA
GO:0010817	Process	Regulation of hormone levels	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0052654	Function	L-leucine-2-oxoglutarate transaminase activity	IDA	8702755
GO:0052654	Function	L-leucine-2-oxoglutarate transaminase activity	IEA
GO:0052655	Function	L-valine-2-oxoglutarate transaminase activity	IDA	8702755
GO:0052655	Function	L-valine-2-oxoglutarate transaminase activity	IEA
GO:0052656	Function	L-isoleucine-2-oxoglutarate transaminase activity	IDA	8702755
GO:0052656	Function	L-isoleucine-2-oxoglutarate transaminase activity	IEA
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA

MIM	HGNC	e!Ensembl
113530	977	ENSG00000105552

O15382

Protein name

Branched-chain-amino-acid aminotransferase, mitochondrial (BCAT(m)) (EC 2.6.1.42) (Placental protein 18) (PP18)

Protein function

Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine (PubMed:17050531, PubMed:25653144, PubMed:8702755). May also function as a transporter of branched chain alpha-keto acids

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01063	Aminotran_4	100 → 350	Amino-transferase class IV	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:11170829}.

Sequence

MAAAALGQIWARKLLSVPWLLCGPRRYASSSFKAADLQLEMTQKPHKKPGPGEPLVFGKT
FTDHMLMVEWNDKGWGQPRIQPFQNLTLHPASSSLHYSLQLFEGMKAFKGKDQQVRLFRP
WLNMDRMLRSAMRLCLPSFDKLELLECIRRLIEVDKDWVPDAAGTSLYVRPVLIGNEPSL
GVSQPTRALLFVILCPVGAYFPGGSVTPVSLLADPAFIRAWVGGVGNYKLGGNYGPTVLV
QQEALKRGCEQVLWLYGPDHQLTEVGTMNIFVYWTHEDGVLELVTPPLNGVILPGVVRQS
LLDMAQTWGEFRVVERTITMKQLLRALEEGRVREVFGSGTACQVCPVHRILYKDRNLHIP
TMENGPELILRFQKELKEIQYGIRAHEWMFPV

Sequence length

392

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hypervalinemia and hyperleucine-isoleucinemia	Pathogenic	rs753659619, rs749866079, rs767653663	RCV004774729 RCV001078195 RCV001078196	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BCAT2-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAPLE SYRUP URINE DISEASE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (26)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute encephalopathy	Encephalopathy	BEFREE	31177572		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27609895, 31784505		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28798381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28798381	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	28798381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	37076565	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Classic Maple Syrup Urine Disease	Maple Syrup Urine Disease	CTD_human_DG	14755340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	37522124	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	27932423, 30016590	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30016590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30016590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intermediate Maple Syrup Urine Disease	Maple Syrup Urine Disease	CTD_human_DG	14755340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intermittent Maple Syrup Urine Disease	Maple Syrup Urine Disease	CTD_human_DG	14755340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28798381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	23168236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	28798381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Maple Syrup Urine Disease	Maple Syrup Urine Disease	BEFREE	14755340, 31177572		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maple Syrup Urine Disease	Maple Syrup Urine Disease	CTD_human_DG	14755340		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maple Syrup Urine Disease, Thiamine Responsive	Maple Syrup Urine Disease	CTD_human_DG	14755340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	37801083	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	40083932	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30016590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27609895		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31389463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	23168236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	23168236		★★★★★ ★☆☆☆☆ Found in Text Mining only

BCAT2 (branched chain amino acid transaminase 2)