Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
AlaRS2
mitochondrial alanyl-tRNA synthetase |
| gptkbp:associatedWith |
cardiomyopathy
leukoencephalopathy with ovarian failure |
| gptkbp:discoveredIn |
2007
|
| gptkbp:encodes |
mitochondrial alanyl-tRNA synthetase
|
| gptkbp:Entrez_Gene_ID |
ENSG00000137804
|
| gptkbp:fullName |
alanyl-tRNA synthetase 2, mitochondrial
|
| gptkbp:function |
catalyzes the attachment of alanine to tRNA(Ala) in mitochondria
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
24086
|
| https://www.w3.org/2000/01/rdf-schema#label |
AARS2
|
| gptkbp:locatedOnChromosome |
6
|
| gptkbp:location |
gptkb:6p21.1
|
| gptkbp:mutationAssociatedWith |
can cause mitochondrial dysfunction
|
| gptkbp:numberOfExons |
22
|
| gptkbp:OMIM |
612035
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Aars2
|
| gptkbp:proteinFamily |
aminoacyl-tRNA synthetase family
|
| gptkbp:RefSeq |
NM_020745
NP_065695 |
| gptkbp:UniProtID |
Q5JTJ3
|
| gptkbp:bfsParent |
gptkb:alanyl-tRNA_synthetase
|
| gptkbp:bfsLayer |
8
|