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Aliases for RARS2 Gene

Aliases for RARS2 Gene

  • Arginyl-TRNA Synthetase 2, Mitochondrial 2 3 5
  • EC 6.1.1.19 4 63
  • ArgRS 3 4
  • RARSL 3 4
  • Probable Arginyl-TRNA Synthetase, Mitochondrial 3
  • Arginyl-TRNA Synthetase-Like 2
  • Mitochondrial (Putative) 2
  • Arginyl-TRNA Synthetase 4
  • Arginine TRNA Ligase 2 2
  • PRO1992 3
  • DALRD2 3
  • PCH6 3

External Ids for RARS2 Gene

Previous HGNC Symbols for RARS2 Gene

  • RARSL

Previous GeneCards Identifiers for RARS2 Gene

  • GC06M088281
  • GC06M085440
  • GC06M088225

Summaries for RARS2 Gene

Entrez Gene Summary for RARS2 Gene

  • This nuclear gene encodes a protein that localizes to the mitochondria, where it catalyzes the transfer of L-arginine to its cognate tRNA, an important step in translation of mitochondrially-encoded proteins. Defects in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

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 type 1. Among its related pathways are Gene Expression and tRNA Aminoacylation. GO annotations related to this gene include poly(A) RNA binding and aminoacyl-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

Regulatory Elements for RARS2 Gene

Promoters for RARS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RARS2 on UCSC Golden Path with GeneCards custom track

Genomic Location for RARS2 Gene

Chromosome:
6
Start:
87,499,347 bp from pter
End:
87,590,017 bp from pter
Size:
90,671 bases
Orientation:
Minus strand

Genomic View for RARS2 Gene

Genes around RARS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RARS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RARS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Ubiquitination at Lys 115 and Lys 446
  • Modification sites at PhosphoSitePlus

Other Protein References for RARS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for RARS2 Gene

Gene Families for RARS2 Gene

Graphical View of Domain Structure for InterPro Entry

Q5T160

UniProtKB/Swiss-Prot:

SYRM_HUMAN :
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
Family:
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
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:0004812 aminoacyl-tRNA ligase activity IEA --
genes like me logo Genes that share ontologies with RARS2: view
genes like me logo Genes that share phenotypes with RARS2: view

Human Phenotype Ontology for RARS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RARS2 Gene

MGI Knock Outs for RARS2:

Animal Model Products

  • Taconic Biosciences Mouse Models for RARS2

No data available for Transcription Factor Targets 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 5
cytosol 3

No data available for Gene Ontology (GO) - Cellular Components for RARS2 Gene

Pathways & Interactions 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

None

No data available for SIGNOR curated interactions for RARS2 Gene

Drugs & Compounds for RARS2 Gene

(4) Drugs for RARS2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
L-Arginine Approved Nutra Full agonist, Agonist 0
Diphosphate Experimental Pharma 0

(1) Additional Compounds for RARS2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
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

Protein differential expression in normal tissues from HIPED for RARS2 Gene

This gene is overexpressed in Bone (61.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with RARS2: view

Protein tissue co-expression partners for RARS2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RARS2 Gene

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
  • 100 (a)
OneToOne
RARS2 35
  • 99.94 (n)
  • 99.83 (a)
cow
(Bos Taurus)
Mammalia RARS2 36
  • 92 (a)
OneToOne
RARS2 35
  • 89.97 (n)
  • 91.7 (a)
dog
(Canis familiaris)
Mammalia RARS2 35
  • 91.58 (n)
  • 92.91 (a)
RARS2 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rars2 16
Rars2 36
  • 87 (a)
OneToOne
Rars2 35
  • 86.1 (n)
  • 86.51 (a)
oppossum
(Monodelphis domestica)
Mammalia RARS2 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RARS2 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rars2 35
  • 86.04 (n)
  • 85.81 (a)
chicken
(Gallus gallus)
Aves RARS2 36
  • 73 (a)
OneToOne
RARS2 35
  • 72.97 (n)
  • 73.96 (a)
lizard
(Anolis carolinensis)
Reptilia RARS2 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rars2 35
  • 64.12 (n)
  • 63.89 (a)
zebrafish
(Danio rerio)
Actinopterygii rars2 36
  • 55 (a)
OneToOne
rars2 35
  • 58.45 (n)
  • 57.29 (a)
zgc63702 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010086 35
  • 47.88 (n)
  • 37.3 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10092 36
  • 33 (a)
OneToOne
CG10092 35
  • 48.9 (n)
  • 41.19 (a)
worm
(Caenorhabditis elegans)
Secernentea rars-2 36
  • 28 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL206C 35
  • 47.02 (n)
  • 43.42 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YDR341C 35
  • 49.84 (n)
  • 43.59 (a)
-- 36
  • 37 (a)
ManyToMany
MSR1 36
  • 35 (a)
ManyToMany
-- 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A07040g 35
  • 49.17 (n)
  • 41.46 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU08195 35
  • 47.82 (n)
  • 40.26 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mrs1 35
  • 50.31 (n)
  • 42.31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

(15) 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
rs17850652 - 87,529,548(+) TTGTT(C/T)TCAGT nc-transcript-variant, reference, missense, utr-variant-5-prime
rs3757370 - 87,521,508(+) ATCTA(C/T)AGCAG nc-transcript-variant, reference, missense
rs1108758 - 87,520,192(+) CCCAG(C/T)CATAT nc-transcript-variant, reference, missense
rs8802 -- 87,514,446(-) ATGAA(A/G)CTTCT nc-transcript-variant, reference, synonymous-codon
rs379386 -- 87,582,094(+) acata(C/T)gattt 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

Variation tolerance for RARS2 Gene

Residual Variation Intolerance Score: 53.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.53; 77.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RARS2 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RARS2 Gene

Disorders for RARS2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for RARS2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pontocerebellar hypoplasia, type 6
  • pontocerebellar hypoplasia type 6
pontocerebellar hypoplasia type 1
  • pontocerebellar hypoplasia with anterior horn cell disease
microcephaly 12, primary, autosomal recessive
  • primary autosomal recessive microcephaly type 12
pontoneocerebellar hypoplasia
autosomal dominant microcephaly
  • microcephaly autosomal dominant
- elite association - COSMIC cancer census association via MalaCards
Search RARS2 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for RARS2

Genetic Association Database (GAD)
RARS2
Human Genome Epidemiology (HuGE) Navigator
RARS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RARS2
genes like me logo Genes that share disorders with RARS2: view

No data available for Genatlas for RARS2 Gene

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 67
  2. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. (PMID: 25809939) Li Z. … Del Gaudio D. (J. Hum. Genet. 2015) 3
  5. Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations. (PMID: 26083569) Lax N.Z. … Taylor R.W. (J. Neuropathol. Exp. Neurol. 2015) 3

Products for RARS2 Gene

Sources for RARS2 Gene

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