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Aliases for AARS2 Gene

Aliases for AARS2 Gene

  • Alanyl-TRNA Synthetase 2, Mitochondrial 2 3
  • Alanyl-TRNA Synthetase 2, Mitochondrial (Putative) 2 3
  • Alanyl-TRNA Synthetase Like 2 3
  • EC 6.1.1.7 4 63
  • KIAA1270 4 6
  • MTALARS 3 6
  • COXPD8 3 6
  • AARSL 3 4
  • Alanine TRNA Ligase 2, Mitochondrial (Putative) 3
  • Probable Alanyl-TRNA Synthetase, Mitochondrial 3
  • Alanine--TRNA Ligase, Mitochondrial 3
  • Alanyl-TRNA Synthetase 4
  • Alanine TRNA Ligase 2 2
  • Mitochondrial 2
  • MT-ALARS 3
  • AlaRS 4
  • LKENP 3

External Ids for AARS2 Gene

Previous HGNC Symbols for AARS2 Gene

  • AARSL

Previous GeneCards Identifiers for AARS2 Gene

  • GC06M044376
  • GC06M043988

Summaries for AARS2 Gene

Entrez Gene Summary for AARS2 Gene

  • The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011]

GeneCards Summary for AARS2 Gene

AARS2 (Alanyl-TRNA Synthetase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with AARS2 include combined oxidative phosphorylation deficiency 8 and leukoencephalopathy, progressive, with ovarian failure. Among its related pathways are Gene Expression and tRNA Aminoacylation. GO annotations related to this gene include tRNA binding and alanine-tRNA ligase activity. An important paralog of this gene is AARS.

UniProtKB/Swiss-Prot for AARS2 Gene

  • Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain.

Gene Wiki entry for AARS2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AARS2 Gene

Genomics for AARS2 Gene

Regulatory Elements for AARS2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for AARS2 Gene

Start:
44,298,726 bp from pter
End:
44,313,357 bp from pter
Size:
14,632 bases
Orientation:
Minus strand

Genomic View for AARS2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AARS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AARS2 Gene

Proteins for AARS2 Gene

  • Protein details for AARS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JTZ9-SYAM_HUMAN
    Recommended name:
    Alanine--tRNA ligase, mitochondrial
    Protein Accession:
    Q5JTZ9
    Secondary Accessions:
    • A2RRN5
    • Q8N198
    • Q96D02
    • Q9ULF0

    Protein attributes for AARS2 Gene

    Size:
    985 amino acids
    Molecular mass:
    107340 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 1 zinc ion per subunit.;
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=BAA86584.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for AARS2 Gene

Proteomics data for AARS2 Gene at MOPED

Post-translational modifications for AARS2 Gene

  • Ubiquitination at Lys280
  • Modification sites at PhosphoSitePlus

Other Protein References for AARS2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for AARS2 Gene

Gene Families for AARS2 Gene

HGNC:
  • aaRS2 :Aminoacyl tRNA synthetases / Class II

Suggested Antigen Peptide Sequences for AARS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5JTZ9

UniProtKB/Swiss-Prot:

SYAM_HUMAN :
  • Q5JTZ9
Domain:
  • Consists of three domains; the N-terminal catalytic domain, the editing domain and the C-terminal C-Ala domain. The editing domain removes incorrectly charged amino acids, while the C-Ala domain, along with tRNA(Ala), serves as a bridge to cooperatively bring together the editing and aminoacylation centers thus stimulating deacylation of misacylated tRNAs.
Family:
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with AARS2: view

Function for AARS2 Gene

Molecular function for AARS2 Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + L-alanine + tRNA(Ala) = AMP + diphosphate + L-alanyl-tRNA(Ala).
UniProtKB/Swiss-Prot Function: Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain.

Enzyme Numbers (IUBMB) for AARS2 Gene

Gene Ontology (GO) - Molecular Function for AARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IEA --
GO:0000166 nucleotide binding --
GO:0003676 nucleic acid binding --
GO:0004813 alanine-tRNA ligase activity IMP 21549344
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with AARS2: view

Animal Model Products

CRISPR Products

miRNA for AARS2 Gene

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for AARS2 Gene

Localization for AARS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AARS2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AARS2 Gene COMPARTMENTS Subcellular localization image for AARS2 gene
Compartment Confidence
mitochondrion 5
cytosol 3

Gene Ontology (GO) - Cellular Components for AARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005739 mitochondrion IDA --
genes like me logo Genes that share ontologies with AARS2: view

Pathways for AARS2 Gene

genes like me logo Genes that share pathways with AARS2: view

Pathways by source for AARS2 Gene

1 KEGG pathway for AARS2 Gene

Gene Ontology (GO) - Biological Process for AARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006419 alanyl-tRNA aminoacylation --
GO:0010467 gene expression TAS --
GO:0033108 mitochondrial respiratory chain complex assembly IMP 21549344
GO:0043039 tRNA aminoacylation --
genes like me logo Genes that share ontologies with AARS2: view

Compounds for AARS2 Gene

(1) HMDB Compounds for AARS2 Gene

Compound Synonyms Cas Number PubMed IDs
L-Alanine
  • (2S)-2-Aminopropanoate
56-41-7

(1) Drugbank Compounds for AARS2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Alanine
  • (2S)-2-Aminopropanoic acid
56-41-7 target
genes like me logo Genes that share compounds with AARS2: view

Transcripts for AARS2 Gene

mRNA/cDNA for AARS2 Gene

Unigene Clusters for AARS2 Gene

Alanyl-tRNA synthetase 2, mitochondrial:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AARS2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for AARS2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AARS2 Gene

No ASD Table

Relevant External Links for AARS2 Gene

GeneLoc Exon Structure for
AARS2
ECgene alternative splicing isoforms for
AARS2

Expression for AARS2 Gene

mRNA expression in normal human tissues for AARS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AARS2 Gene

SOURCE GeneReport for Unigene cluster for AARS2 Gene Hs.158381

genes like me logo Genes that share expressions with AARS2: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AARS2 Gene

Orthologs for AARS2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AARS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AARS2 35
  • 99.7 (n)
  • 99.59 (a)
AARS2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AARS2 35
  • 88.26 (n)
  • 87.36 (a)
AARS2 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AARS2 35
  • 88.28 (n)
  • 87.53 (a)
AARS2 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aars2 35
  • 83.04 (n)
  • 83.7 (a)
Aars2 16
Aars2 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AARS2 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AARS2 36
  • 47 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aars2 35
  • 83.26 (n)
  • 84.62 (a)
chicken
(Gallus gallus)
Aves AARS2 35
  • 65.66 (n)
  • 64.95 (a)
AARS2 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AARS2 36
  • 59 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii aars2 35
  • 60.19 (n)
  • 57.83 (a)
aars2 36
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Aats-ala-m 36
  • 31 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea aars-1 36
  • 36 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALA1 36
  • 39 (a)
OneToMany
Species with no ortholog for AARS2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for AARS2 Gene

ENSEMBL:
Gene Tree for AARS2 (if available)
TreeFam:
Gene Tree for AARS2 (if available)

Paralogs for AARS2 Gene

Paralogs for AARS2 Gene

Selected SIMAP similar genes for AARS2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with AARS2: view

Variants for AARS2 Gene

Sequence variations from dbSNP and Humsavar for AARS2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs161706 -- 44,306,714(-) CAGCC(C/T)TTGAC intron-variant
rs167772 -- 44,313,075(+) TCGGC(C/T)CTCAC intron-variant
rs324135 -- 44,313,864(-) CAAGG(A/G)AACTG upstream-variant-2KB
rs324136 Benign, - 44,307,274(-) ATGGC(A/G)TCTTC missense, reference, intron-variant, nc-transcript-variant
rs324137 -- 44,305,809(-) CAACA(G/T)TCTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AARS2 Gene

Variant ID Type Subtype PubMed ID
nsv462936 CNV Loss 19166990
dgv6843n71 CNV Loss 21882294

Relevant External Links for AARS2 Gene

HapMap Linkage Disequilibrium report
AARS2
Human Gene Mutation Database (HGMD)
AARS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AARS2 Gene

Disorders for AARS2 Gene

(1) OMIM Diseases for AARS2 Gene (612035)

UniProtKB/Swiss-Prot

SYAM_HUMAN
  • Combined oxidative phosphorylation deficiency 8 (COXPD8) [MIM:614096]: A mitochondrial disease characterized by a lethal infantile hypertrophic cardiomyopathy, generalized muscle dysfunction and some neurologic involvement. The liver is not affected. {ECO:0000269 PubMed:21549344}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Leukoencephalopathy, progressive, with ovarian failure (LKENP) [MIM:615889]: An autosomal recessive neurodegenerative disorder characterized by childhood- to adulthood-onset of signs of neurologic deterioration consisting of ataxia, spasticity, and cognitive decline with features of frontal lobe dysfunction. Brain MRI shows leukoencephalopathy with striking involvement of deep white matter, and cerebellar atrophy. All female patients develop premature ovarian failure. {ECO:0000269 PubMed:24808023}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AARS2

Genetic Association Database (GAD)
AARS2
Human Genome Epidemiology (HuGE) Navigator
AARS2
genes like me logo Genes that share disorders with AARS2: view

Publications for AARS2 Gene

  1. Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS. (PMID: 15779907) Bonnefond L. … Sissler M. (Biochemistry 2005) 2 3 4
  2. Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. (PMID: 21549344) Gotz A. … Suomalainen A. (Am. J. Hum. Genet. 2011) 2 3 4
  3. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4
  4. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T. … Ohara O. (DNA Res. 1999) 3 4
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48

Products for AARS2 Gene

Sources for AARS2 Gene

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