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 several functions, including ATP binding activity; alanine-tRNA ligase activity; and tRNA binding activity. Predicted to act upstream of or within alanyl-tRNA aminoacylation and protein glycosylation. Predicted to be located in Golgi membrane. Predicted to be integral component of membrane. Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency 8. Orthologous to human AARS2 (alanyl-tRNA synthetase 2, mitochondrial).
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
Leukoencephalopathy, progressive, with ovarian failure 615889
Associated With aars2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR012947 Threonyl/alanyl tRNA synthetase, SAD
Domain IPR018164 Alanyl-tRNA synthetase, class IIc, N-terminal
Domain IPR018165 Alanyl-tRNA synthetase, class IIc, core domain
Family IPR002318 Alanine-tRNA ligase, class IIc
Family IPR002659 Glycosyl transferase, family 31
Family IPR023033 Alanine-tRNA ligase, eukaryota/bacteria
Homologous_superfamily IPR009000 Translation protein, beta-barrel domain superfamily
Homologous_superfamily IPR018162 Alanine-tRNA ligase, class IIc, anti-codon-binding domain superfamily
Homologous_superfamily IPR018163 Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain superfamily
Domain Details Per Protein
Protein Length Alanine-tRNA ligase, class IIc Alanine-tRNA ligase, class IIc, anti-codon-binding domain superfamily Alanine-tRNA ligase, eukaryota/bacteria Alanyl-tRNA synthetase, class IIc, core domain Alanyl-tRNA synthetase, class IIc, N-terminal Glycosyl transferase, family 31 Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain superfamily Threonyl/alanyl tRNA synthetase, SAD Translation protein, beta-barrel domain superfamily
UniProtKB:F1RAH7 997
UniProtKB:A0A286Y9U5 362
UniProtKB:A0A2R8QPI6 399
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