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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 (Branched Chain Amino Acid Transaminase 2) is a Protein Coding gene. Diseases associated with BCAT2 include Hypervalinemia And Hyperleucine-Isoleucinemia and Hyperleucine-Isoleucinemia. Among its related pathways are Valine, leucine and isoleucine degradation and Pantothenate and CoA biosynthesis. Gene Ontology (GO) annotations related to this gene include branched-chain-amino-acid transaminase activity and L-valine transaminase activity. An important paralog of this gene is BCAT1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0004084 | branched-chain-amino-acid transaminase activity | IEA,IBA | 21873635 |
GO:0005515 | protein binding | IPI | 28514442 |
GO:0008483 | transaminase activity | IEA | -- |
GO:0016740 | transferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005739 | mitochondrion | IDA | -- |
GO:0005759 | mitochondrial matrix | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Valine, leucine and isoleucine degradation | ||
2 | Carbon metabolism | ||
3 | Sulfur amino acid metabolism | ||
4 | Metabolism |
.40
|
|
5 | Glucose / Energy Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006549 | isoleucine metabolic process | IEA | -- |
GO:0006550 | isoleucine catabolic process | IEA | -- |
GO:0006551 | leucine metabolic process | IEA | -- |
GO:0006573 | valine metabolic process | IEA | -- |
GO:0008652 | cellular amino acid biosynthetic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Glutamic acid | Approved | Nutra | Agonist, Full agonist, Target | 304 | ||
Pyridoxal Phosphate | Approved, Investigational | Nutra | Target, cofactor | 16 | ||
Famotidine | Approved | Pharma | Histamine H2-receptor antagonist | 82 | ||
Valine | Approved | Nutra | 40 | |||
alpha-ketoisovalerate | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
3-Methyl-2-oxovaleric acid |
|
1460-34-0 |
|
|||
Ketoleucine |
|
816-66-0 |
|
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: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP10: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP14: | - | - | - | - |
ExUns: | 13a | · | 13b | ^ | 14 |
---|---|---|---|---|---|
SP1: | - | ||||
SP2: | - | ||||
SP3: | |||||
SP4: | |||||
SP5: | |||||
SP6: | |||||
SP7: | |||||
SP8: | |||||
SP9: | |||||
SP10: | |||||
SP11: | |||||
SP12: | |||||
SP13: | |||||
SP14: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BCAT2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BCAT2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BCAT2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Bcat2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bcat2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | BCAT2 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BCAT2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bcat2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | bcat2 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG1673 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | bcat-1 31 |
|
ManyToMany | |
Y44A6D.5 31 32 |
|
ManyToMany | |||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0A10307g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | BAT1 30 31 |
|
ManyToMany | |
BAT2 31 |
|
ManyToMany | |||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | BCAT-2 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os03g0231600 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU04754 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7238 31 |
|
OneToMany | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | eca39 30 |
|
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
719117 | Likely Benign: not provided | 48,796,704(-) | C/A | SYNONYMOUS_VARIANT | |
730073 | Likely Benign: not provided | 48,796,646(-) | G/A | MISSENSE_VARIANT | |
732830 | Likely Benign: not provided | 48,799,726(-) | G/C | MISSENSE_VARIANT | |
758883 | Likely Benign: not provided | 48,797,343(-) | G/A | INTRON_VARIANT | |
777503 | Benign: not provided | 48,806,519(-) | G/C | MISSENSE_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2677313 | CNV | deletion | 23128226 |
esv3644600 | CNV | loss | 21293372 |
esv3644601 | CNV | loss | 21293372 |
nsv833855 | CNV | loss | 17160897 |
nsv9739 | CNV | gain+loss | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hypervalinemia and hyperleucine-isoleucinemia |
|
|
hyperleucine-isoleucinemia |
|
|
maple syrup urine disease |
|
|
neu-laxova syndrome 2 |
|
|