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Aliases for RARS2 Gene

Aliases for RARS2 Gene

  • Arginyl-TRNA Synthetase 2, Mitochondrial 2 3
  • RARSL 3 4 6
  • EC 6.1.1.19 4 64
  • ArgRS 3 4
  • PCH6 3 6
  • Probable Arginyl-TRNA Synthetase, Mitochondrial 3
  • Probable Arginine--TRNA Ligase, Mitochondrial 3
  • Arginyl-TRNA Synthetase-Like 2
  • Mitochondrial (Putative) 2
  • Arginyl-TRNA Synthetase 4
  • Arginine TRNA Ligase 2 2
  • Arginine--TRNA Ligase 3
  • Arginine-TRNA Ligase 3
  • DJ382I10.6 3
  • PRO1992 3
  • DALRD2 3

External Ids for RARS2 Gene

Previous Symbols for RARS2 Gene

  • RARSL

Summaries for RARS2 Gene

Entrez Gene Summary for RARS2 Gene

  • The protein encoded by this gene is an arginyl-tRNA synthetase that is found in the mitochondrial matrix. Defects in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6). [provided by RefSeq, Oct 2008]

GeneCards Summary for RARS2 Gene

RARS2 (Arginyl-TRNA Synthetase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with RARS2 include pontocerebellar hypoplasia, type 6 and pontocerebellar hypoplasia. Among its related pathways are Gene Expression and tRNA Aminoacylation. GO annotations related to this gene include arginine-tRNA ligase activity. An important paralog of this gene is RARS.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RARS2 Gene

Genomics for RARS2 Gene

Genomic Location for RARS2 Gene

Start:
87,514,378 bp from pter
End:
87,590,017 bp from pter
Size:
75,640 bases
Orientation:
Minus strand

Genomic View for RARS2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RARS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RARS2 Gene

Regulatory Elements for RARS2 Gene

Proteins for RARS2 Gene

  • Protein details for RARS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T160-SYRM_HUMAN
    Recommended name:
    Probable arginine--tRNA ligase, mitochondrial
    Protein Accession:
    Q5T160
    Secondary Accessions:
    • B2RDT7
    • Q96FU5
    • Q9H8K8

    Protein attributes for RARS2 Gene

    Size:
    578 amino acids
    Molecular mass:
    65505 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RARS2 Gene

Proteomics data for RARS2 Gene at MOPED

Post-translational modifications for RARS2 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys115 and Lys446

Other Protein References for RARS2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for RARS2 Gene

Gene Families for RARS2 Gene

HGNC:
  • aaRS1 :Aminoacyl tRNA synthetases / Class I

UniProtKB/Swiss-Prot:

SYRM_HUMAN
Family:
  • Belongs to the class-I aminoacyl-tRNA synthetase family.:
    • Q5T160
genes like me logo Genes that share domains with RARS2: view

Function for RARS2 Gene

Molecular function for RARS2 Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + L-arginine + tRNA(Arg) = AMP + diphosphate + L-arginyl-tRNA(Arg)

Enzyme Numbers (IUBMB) for RARS2 Gene

Gene Ontology (GO) - Molecular Function for RARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding --
GO:0004812 aminoacyl-tRNA ligase activity --
GO:0004814 arginine-tRNA ligase activity IBA --
GO:0005524 ATP binding IEA --
GO:0044822 poly(A) RNA binding IDA 22681889
genes like me logo Genes that share ontologies with RARS2: view

Phenotypes for RARS2 Gene

MGI mutant phenotypes for RARS2:
inferred from 1 alleles
GenomeRNAi human phenotypes for RARS2:
genes like me logo Genes that share phenotypes with RARS2: view

miRNA for RARS2 Gene

miRTarBase miRNAs that target RARS2

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for RARS2 Gene

Localization for RARS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RARS2 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RARS2 Gene COMPARTMENTS Subcellular localization image for RARS2 gene
Compartment Confidence
mitochondrion 4
cytosol 2

Gene Ontology (GO) - Cellular Components for RARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005739 mitochondrion IBA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with RARS2: view

Pathways for RARS2 Gene

genes like me logo Genes that share pathways with RARS2: view

Pathways by source for RARS2 Gene

1 KEGG pathway for RARS2 Gene

Gene Ontology (GO) - Biological Process for RARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006420 arginyl-tRNA aminoacylation IBA --
GO:0010467 gene expression TAS --
GO:0032543 mitochondrial translation IBA --
genes like me logo Genes that share ontologies with RARS2: view

Compounds for RARS2 Gene

(5) HMDB Compounds for RARS2 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
L-Arginine
  • (S)-2-Amino-5-[(aminoiminomethyl)amino]pentanoate
74-79-3
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8
genes like me logo Genes that share compounds with RARS2: view

Transcripts for RARS2 Gene

Unigene Clusters for RARS2 Gene

Arginyl-tRNA synthetase 2, mitochondrial:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RARS2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a ·
SP1: - - -
SP2: - - - - - - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - - - - - - - -
SP6: - - -
SP7: - - - - - -
SP8: - - - - - -
SP9: - - -
SP10: - -
SP11:

ExUns: 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for RARS2 Gene

GeneLoc Exon Structure for
RARS2
ECgene alternative splicing isoforms for
RARS2

Expression for RARS2 Gene

mRNA expression in normal human tissues for RARS2 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for RARS2 Gene

SOURCE GeneReport for Unigene cluster for RARS2 Gene Hs.485910

genes like me logo Genes that share expressions with RARS2: view

Orthologs for RARS2 Gene

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

Orthologs for RARS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RARS2 36
  • 99.94 (n)
  • 99.83 (a)
RARS2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RARS2 36
  • 89.97 (n)
  • 91.7 (a)
RARS2 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RARS2 36
  • 91.58 (n)
  • 92.91 (a)
RARS2 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rars2 36
  • 86.1 (n)
  • 86.51 (a)
Rars2 16
Rars2 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RARS2 37
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RARS2 37
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rars2 36
  • 86.04 (n)
  • 85.81 (a)
chicken
(Gallus gallus)
Aves RARS2 36
  • 72.97 (n)
  • 73.96 (a)
RARS2 37
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RARS2 37
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rars2 36
  • 64.12 (n)
  • 63.89 (a)
zebrafish
(Danio rerio)
Actinopterygii rars2 36
  • 58.45 (n)
  • 57.29 (a)
rars2 37
  • 55 (a)
OneToOne
zgc63702 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010086 36
  • 47.88 (n)
  • 37.3 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10092 36
  • 48.9 (n)
  • 41.19 (a)
CG10092 37
  • 33 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rars-2 37
  • 28 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL206C 36
  • 47.02 (n)
  • 43.42 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 37
  • 37 (a)
ManyToMany
-- 39
MSR1 37
  • 35 (a)
ManyToMany
YDR341C 36
  • 49.84 (n)
  • 43.59 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A07040g 36
  • 49.17 (n)
  • 41.46 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU08195 36
  • 47.82 (n)
  • 40.26 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mrs1 36
  • 50.31 (n)
  • 42.31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 40 (a)
OneToOne
Species with no ortholog for RARS2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 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)
  • wheat (Triticum aestivum)

Evolution for RARS2 Gene

ENSEMBL:
Gene Tree for RARS2 (if available)
TreeFam:
Gene Tree for RARS2 (if available)

Paralogs for RARS2 Gene

Paralogs for RARS2 Gene

Selected SIMAP similar genes for RARS2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with RARS2: view

Variants for RARS2 Gene

Sequence variations from dbSNP and Humsavar for RARS2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs8802 Likely benign 87,514,446(-) ATGAA(A/G)CTTCT reference, synonymous-codon, nc-transcript-variant
rs379386 -- 87,582,094(+) acata(C/T)gattt intron-variant
rs910267 -- 87,521,014(+) CTGGC(A/G)AAATT intron-variant
rs910268 -- 87,521,169(+) TGTTG(A/G)GCCCA intron-variant
rs1108757 -- 87,520,409(+) ACAAG(A/T)AGAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RARS2 Gene

Variant ID Type Subtype PubMed ID
nsv511905 CNV Loss 21212237
esv2569279 CNV Deletion 19546169
esv2283561 CNV Deletion 18987734
esv2732391 CNV Deletion 23290073
esv2658829 CNV Deletion 23128226
esv6087 CNV Loss 19470904

Relevant External Links for RARS2 Gene

HapMap Linkage Disequilibrium report
RARS2
Human Gene Mutation Database (HGMD)
RARS2

Disorders for RARS2 Gene

(1) OMIM Diseases for RARS2 Gene (611524)

UniProtKB/Swiss-Prot

SYRM_HUMAN
  • Pontocerebellar hypoplasia 6 (PCH6) [MIM:611523]: A disorder characterized by an abnormally small cerebellum and brainstem, infantile encephalopathy, generalized hypotonia, lethargy and poor feeding. Recurrent apnea, intractable seizures occur early in the course of this condition. {ECO:0000269 PubMed:17847012}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for RARS2 Gene

Relevant External Links for RARS2

Genetic Association Database (GAD)
RARS2
Human Genome Epidemiology (HuGE) Navigator
RARS2
genes like me logo Genes that share disorders with RARS2: view

Publications for RARS2 Gene

  1. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. (PMID: 17847012) Edvardson S. … Elpeleg O. (Am. J. Hum. Genet. 2007) 2 3 4
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 49
  3. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for RARS2 Gene

Sources for RARS2 Gene

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