Gene

aars2

ID
ZDB-GENE-041008-213
Name
alanyl-tRNA synthetase 2, mitochondrial (putative)
Symbol
aars2 Nomenclature History
Previous Names
  • im:7141191
  • si:dkey-240e12.1 (1)
Type
protein_coding_gene
Location
Chr: 22 Mapping Details/Browsers
Description
Predicted to enable UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity. Predicted to act upstream of or within alanyl-tRNA aminoacylation. Predicted to be located in Golgi membrane. Predicted to be active in membrane. Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency 8. Orthologous to several human genes including B3GALT5 (beta-1,3-galactosyltransferase 5).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Thisse et al., 2004
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With aars2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
combined oxidative phosphorylation deficiency 8 Alliance Combined oxidative phosphorylation deficiency 8 614096
progressive leukoencephalopathy with ovarian failure Alliance Leukoencephalopathy, progressive, with ovarian failure 615889
Associated With aars2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations