BCAT2 - branched chain amino acid transaminase 2 Gene

Also Known as BCAM; BCT2; HVLI; PP18; BCATM

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 587

About BCAT2

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:48,795,064-48,811,029 (from NCBI)

This gene has 12 transcripts (splice variants), 187 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in urinary bladder (RPKM 16.4), adrenal (RPKM 15.6) and 25 other tissues.

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]

BCAT2 Products (3)

mRNA Protein Name
NM_001164773.2 NP_001158245.1 branched-chain-amino-acid aminotransferase, mitochondrial isoform b
NM_001190.4 NP_001181.2 branched-chain-amino-acid aminotransferase, mitochondrial isoform a precursor
NM_001284325.2 NP_001271254.1 branched-chain-amino-acid aminotransferase, mitochondrial isoform c

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables L-isoleucine-2-oxoglutarate transaminase activity IDA
IDA: Inferred from direct assay
8702755 GOA
enables L-leucine-2-oxoglutarate transaminase activity IDA
IDA: Inferred from direct assay
8702755 GOA
enables L-valine-2-oxoglutarate transaminase activity IDA
IDA: Inferred from direct assay
8702755 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BCAT2 Protein Structure

Aminotran_4

Aminotran_4: Amino-transferase class IV (123 - 351)

  • 0
  • 100
  • 200
  • 300
  • 392 a.a.
Protein Preferred Names Protein Names

branched-chain-amino-acid aminotransferase, mitochondrial

  • branched chain amino-acid transaminase 2, mitochondrial

BCAT2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
BCAT2 O15382 HSPD1 Homo sapiens P10809
Anti Tag CoIP
28514442
Intra
BCAT2 O15382 HSPD1 Homo sapiens P10809
Anti Tag CoIP
33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Hypervalinemia And Hyperleucine-Isoleucinemia

  • Hypervalinemia Or Hyperleucine-Isoleucinemia

  • HVLI

  • Branched-Chain Aminotransferase Deficiency
Hyperleucine-Isoleucinemia
Maple Syrup Urine Disease

  • MSUD

  • Bckd Deficiency

  • Branched-Chain Ketoaciduria

  • Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency

  • Keto Acid Decarboxylase Deficiency

  • Maple Syrup Urine Disease, Type Ii

  • Branched Chain Ketoaciduria

  • Classic Maple Syrup Urine Disease

  • Intermittent Maple Syrup Urine Disease

  • Maple Syrup Urine Disease, Type Ia

  • Ketoacidaemia

  • Bckdh Deficiency

  • Branched-Chain 2-Ketoacid Dehydrogenase Deficiency

  • Thiamine-Responsive Maple Syrup Urine Disease

  • Intermediate Maple Syrup Urine Disease

  • Maple Syrup Urine Disease Type 1a

  • Maple Syrup Urine Disease Type 1b

  • Maple Syrup Urine Disease Type 2

  • Maple Syrup Urine Disease, Type Ib

  • Dihydrolipoamide Dehydrogenase Deficiency

  • Branched-Chain Ketoacid Dehydrogenase Deficiency

  • Maple Syrup Disease

  • Ketoacidemia

  • Classic Bckd Deficiency

  • Classic Msud

  • Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

  • Classic Branched-Chain Ketoaciduria

  • Thiamine-Responsive Bckd Deficiency

  • Thiamine-Responsive Msud

  • Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

  • Intermittent Bckd Deficiency

  • Intermittent Msud

  • Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

  • Maple Syrup Urine Disease 1a

  • MSUD1A

  • Maple Syrup Urine Disease Type Ia

  • Msud Type Ia

  • Maple Syrup Urine Disease 1b

  • MSUD1B

  • Maple Syrup Urine Disease Type Ib

  • Msud Type Ib

  • Maple Syrup Urine Disease 2

  • MSUD2

  • Maple Syrup Urine Disease Type Ii

  • Msud Type Ii

  • Nadh Cytochrome B5 Reductase Deficiency

  • Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency

  • Ketonemia

  • Maple Syrup Urine Disease, Type 1b

  • Ketoacid Decarboxylase Deficiency

  • Oxoacid Decarboxylase Deficiency

  • Branched Chain Ketoacid Dehydrogenase Deficiency

  • Msud - [Maple-Syrup-Urine Disease]

  • Ketoaminoacidaemia

  • Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]

  • Maple-Syrup-Urine Disorder

  • Maple-Syrup-Urine Syndrome
Pancreatic Cancer

  • Pancreatic Carcinoma

  • Carcinoma Of Pancreas

  • Familial Pancreatic Carcinoma

  • Pancreatic Neoplasm

  • Pancreatic Carcinoma, Familial

  • Malignant Neoplasm Of Pancreas

  • Pancreatic Acinar Carcinoma

  • Pancreatic Tumor

  • Familial Pancreatic Cancer

  • Neoplasm Of The Pancreas

  • Cancer Of The Pancreas

  • Pancreatic Carcinoma, Somatic

  • Pancreatic Cancer, Somatic

  • Ca Body Of Pancreas

  • Ca Head Of Pancreas

  • Ca Tail Of Pancreas

  • Malignant Neoplasm Of Body Of Pancreas

  • Malignant Neoplasm Of Head Of Pancreas

  • Malignant Neoplasm Of Tail Of Pancreas

  • Pancreas Neoplasm

  • Exocrine Cancer

  • Exocrine Pancreas Carcinoma

  • Hereditary Pancreatic Cancer

  • Hereditary Pancreatic Carcinoma

  • PNCA

  • Pancreatic Cancer, Susceptibility To

  • Carcinoma Of Head Of Pancreas

  • Pancreatic Neoplasms

  • Pancreatic Tumors

  • Cancer, Pancreatic

  • Cancer Of Pancreas

  • Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (7)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-148242 BAY-069 99.54% Unkown
HY-159730 ERG245 Inhibitor 99.49% Unkown
HY-148242A BAY-252 99.83% Unkown
HY-156965 BAY-771 / Unkown
HY-RS01403 BCAT2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS17299 Bcat2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS23754 Bcat2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus BCAT2 RGD RGD:68948
Canis familiaris BCAT2 VGNC VGNC:38402
Mus musculus BCAT2 MGD MGI:1276534
Bos taurus BCAT2 VGNC VGNC:26440
Felis catus BCAT2 VGNC VGNC:69203
Macaca mulatta BCAT2 VGNC VGNC:70237
Others BCAT2 NCBI