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 deficien... See more...

Aliases for AARS2 Gene

Aliases for AARS2 Gene

  • Alanyl-TRNA Synthetase 2, Mitochondrial 2 3 5
  • Alanyl-TRNA Synthetase 2, Mitochondrial (Putative) 2 3
  • Alanine--TRNA Ligase, Mitochondrial 3 4
  • Alanyl-TRNA Synthetase Like 2 3
  • EC 6.1.1.7 4 54
  • AARSL 3 4
  • Alanine TRNA Ligase 2, Mitochondrial (Putative) 3
  • Probable Alanyl-TRNA Synthetase, Mitochondrial 3
  • Alanine TRNA Ligase 2, Mitochondrial 2
  • Alanyl-TRNA Synthetase 4
  • MT-ALARS 3
  • KIAA1270 4
  • MTALARS 3
  • COXPD8 3
  • LKENP 3
  • AlaRS 4

External Ids for AARS2 Gene

Previous HGNC Symbols for AARS2 Gene

  • AARSL

Previous GeneCards Identifiers for AARS2 Gene

  • GC06M044376
  • GC06M044266
  • 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 tRNA Aminoacylation and Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and tRNA binding. An important paralog of this gene is AARS1.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for AARS2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AARS2 Gene

Genomics for AARS2 Gene

GeneHancer (GH) Regulatory Elements for AARS2 Gene

Promoters and enhancers for AARS2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AARS2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AARS2 gene promoter:
  • C/EBPalpha
  • CHOP-10
  • LCR-F1
  • Lmo2
  • NF-kappaB
  • NF-kappaB1
  • POU2F1
  • POU2F1a

Genomic Locations for AARS2 Gene

Genomic Locations for AARS2 Gene
chr6:44,297,826-44,313,358
(GRCh38/hg38)
Size:
15,533 bases
Orientation:
Minus strand
chr6:44,266,463-44,281,063
(GRCh37/hg19)
Size:
14,601 bases
Orientation:
Minus strand

Genomic View for AARS2 Gene

Genes around AARS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AARS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=BAA86584.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for AARS2 Gene

Selected DME Specific Peptides for AARS2 Gene

Q5JTZ9:
  • VRVVSVG
  • VVADHIR
  • FYAEQGGQ
  • TFFEMLG
  • YPDPVRVV
  • MGDTGPCGP
  • HTATHLL
  • GPCGPCTEI
  • NAGMNQFK
  • HNDLEDVG
  • TDDSPKYNY
  • DTGPCGPC
  • LRRILRRA
  • WNLVFMQ
  • LLFVNAGM
  • VDTGMGLER

Post-translational modifications for AARS2 Gene

  • Ubiquitination at Lys280
  • Modification sites at PhosphoSitePlus

Other Protein References for AARS2 Gene

Domains & Families for AARS2 Gene

Gene Families for AARS2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for AARS2 Gene

GenScript: Design optimal peptide antigens:
  • AARS2 protein (A2VCL8_HUMAN)
  • Alanine--tRNA ligase (SYAM_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5JTZ9

UniProtKB/Swiss-Prot:

SYAM_HUMAN :
  • 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.
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
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 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-alanine + tRNA(Ala) = AMP + diphosphate + L-alanyl-tRNA(Ala); Xref=Rhea:RHEA:12540, Rhea:RHEA-COMP:9657, Rhea:RHEA-COMP:9923, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57972, ChEBI:CHEBI:78442, ChEBI:CHEBI:78497, ChEBI:CHEBI:456215; EC=6.1.1.7; Evidence=. ;.

Enzyme Numbers (IUBMB) for AARS2 Gene

Phenotypes From GWAS Catalog for AARS2 Gene

Gene Ontology (GO) - Molecular Function for AARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IBA 21873635
GO:0000166 nucleotide binding IEA --
GO:0002161 aminoacyl-tRNA editing activity IBA 21873635
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA --
genes like me logo Genes that share ontologies with AARS2: view
genes like me logo Genes that share phenotypes with AARS2: view

Human Phenotype Ontology for AARS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AARS2 Gene

MGI Knock Outs for AARS2:
  • Aars2 Aars2<tm1(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for AARS2 Gene

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for AARS2 Gene

Localization for AARS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AARS2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AARS2 gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA,IBA 21549344
genes like me logo Genes that share ontologies with AARS2: view

Pathways & Interactions for AARS2 Gene

PathCards logo

SuperPathways 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:0006400 tRNA modification IBA 21873635
GO:0006412 translation IEA --
GO:0006419 alanyl-tRNA aminoacylation IBA 21873635
GO:0033108 mitochondrial respiratory chain complex assembly IMP 21549344
GO:0043039 tRNA aminoacylation IEA --
genes like me logo Genes that share ontologies with AARS2: view

No data available for SIGNOR curated interactions for AARS2 Gene

Drugs & Compounds for AARS2 Gene

(3) Drugs for AARS2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Alanine Approved Nutra Full agonist, Agonist, Target Glycine receptor agonist 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(1) Additional Compounds for AARS2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with AARS2: view

Transcripts for AARS2 Gene

mRNA/cDNA for AARS2 Gene

(1) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(121) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for AARS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AARS2 Gene

This gene is overexpressed in Lymph node (12.1) and Peripheral blood mononuclear cells (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AARS2 Gene



Protein tissue co-expression partners for AARS2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AARS2 Gene:

AARS2

SOURCE GeneReport for Unigene cluster for AARS2 Gene:

Hs.158381

Evidence on tissue expression from TISSUES for AARS2 Gene

  • Nervous system(4.4)
  • Liver(4.2)
  • Lung(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AARS2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • pituitary gland
Thorax:
  • breast
  • heart
  • heart valve
  • lung
Pelvis:
  • ovary
  • uterus
  • vagina
  • vulva
General:
  • hair
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with AARS2: view

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 33 32
  • 99.7 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AARS2 33 32
  • 88.28 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AARS2 33 32
  • 88.26 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aars2 32
  • 83.26 (n)
mouse
(Mus musculus)
Mammalia Aars2 17 33 32
  • 83.04 (n)
oppossum
(Monodelphis domestica)
Mammalia AARS2 33
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AARS2 33
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves AARS2 33 32
  • 65.66 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AARS2 33
  • 59 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii aars2 33 32
  • 60.19 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Aats-ala-m 33
  • 31 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea aars-1 33
  • 36 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALA1 33
  • 39 (a)
OneToMany
Species where no ortholog for AARS2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AARS2: view image

Paralogs for AARS2 Gene

Paralogs for AARS2 Gene

(1) SIMAP similar genes for AARS2 Gene using alignment to 2 proteins:

  • SYAM_HUMAN
  • A2VCL8_HUMAN
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 Variation AA Info Type
rs1056092 likely-benign, Combined oxidative phosphorylation deficiency 44,298,971(-) T/C 3_prime_UTR_variant, intron_variant
rs1056093 likely-benign, Combined oxidative phosphorylation deficiency 44,298,837(-) C/A/T 3_prime_UTR_variant, intron_variant
rs111325758 benign, likely-benign, not specified, Combined oxidative phosphorylation deficiency 44,302,438(-) C/T coding_sequence_variant, missense_variant
rs111990690 benign, Combined oxidative phosphorylation deficiency 44,299,992(-) TT/TTT/TTTATTT/TTTCTTT 3_prime_UTR_variant, intron_variant
rs112092257 benign, Combined oxidative phosphorylation deficiency 44,299,914(-) AGG/AGGGCACCCAGG/AGGGCACCCATACCAGG/AGGGCAGG 3_prime_UTR_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv10641n54 CNV loss 21841781
nsv462936 CNV loss 19166990

Variation tolerance for AARS2 Gene

Residual Variation Intolerance Score: 84.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.94; 67.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AARS2 Gene

Human Gene Mutation Database (HGMD)
AARS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AARS2

SNP Genotyping and Copy Number Assay Products

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

Disorders for AARS2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for AARS2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

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.

Additional Disease Information for AARS2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with AARS2: view

No data available for Genatlas for AARS2 Gene

Publications for AARS2 Gene

  1. Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. (PMID: 21549344) Götz A … Suomalainen A (American journal of human genetics 2011) 2 3 4 56
  2. 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 56
  3. Novel (ovario) leukodystrophy related to AARS2 mutations. (PMID: 24808023) Dallabona C … van der Knaap MS (Neurology 2014) 3 4 56
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56

Products for AARS2 Gene

Sources for AARS2 Gene