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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 61
  • ArgRS 3 4
  • RARSL 3 4
  • Arginine TRNA Ligase 2, Mitochondrial (Putative) 2
  • Probable Arginyl-TRNA Synthetase, Mitochondrial 3
  • Probable Arginine--TRNA Ligase, Mitochondrial 3
  • Arginyl-TRNA Synthetase-Like 2
  • Arginyl-TRNA Synthetase 4
  • 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 tRNA Aminoacylation and Gene Expression. 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

Enhancers for RARS2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F087627 0.2 ENCODE 21.6 -38.5 -38496 2.4 SPI1 SLC35A1 RARS2 ORC3 AKIRIN2 RNU6-444P GC06P087659
GH06F087653 0.2 ENCODE 20.8 -63.9 -63882 1.6 BCL11A RARS2 AKIRIN2 ORC3 SLC35A1 GC06P087659
GH06F087659 1.2 Ensembl ENCODE 20.6 -70.1 -70099 1.5 BACH1 MAFG ZNF316 MAFF NFE2 FOS IRF1 MAFK EMSY SLC35A1 RARS2 AKIRIN2 ORC3 GC06P087659 GC06M087700
GH06F087683 0.7 Ensembl 20.1 -93.8 -93784 0.4 HDGF PKNOX1 FEZF1 SP7 ZNF18 RARS2 ENSG00000238628 ORC3 SLC35A1 GC06M087700 GC06P087659
GH06F087755 1.1 FANTOM5 Ensembl ENCODE 15.2 -166.6 -166584 2.8 ZFP64 FEZF1 YY1 CBX5 FOS ZNF202 JUNB REST TBX21 ZNF623 ZNF292 AKIRIN2 RARS2 LINC01590 ENSG00000238628 ORC3 C6orf163 GC06P087742 LOC101928911
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around RARS2 on UCSC Golden Path with GeneCards custom track

Promoters for RARS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001221840 117 3001 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1

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

Post-translational modifications for RARS2 Gene

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

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 --
GO:0004814 arginine-tRNA ligase activity IEA,TAS --
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
GO:0044822 poly(A) RNA binding IDA 22681889
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

Inhibitory RNA Products

Flow Cytometry Products

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

Gene Ontology (GO) - Cellular Components for RARS2 Gene

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

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation IEA,TAS --
GO:0006420 arginyl-tRNA aminoacylation IEA,IBA --
GO:0032543 mitochondrial translation IBA --
genes like me logo Genes that share ontologies with RARS2: view

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
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
L-Arginine Approved Nutra Full agonist, Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
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:

Inhibitory RNA Products

Flow Cytometry Products

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



Protein tissue co-expression partners for RARS2 Gene

NURSA nuclear receptor signaling pathways regulating expression of RARS2 Gene:

RARS2

SOURCE GeneReport for Unigene cluster for RARS2 Gene:

Hs.485910
genes like me logo Genes that share expression patterns with RARS2: view

Primer 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 34 35
  • 99.94 (n)
dog
(Canis familiaris)
Mammalia RARS2 34 35
  • 91.58 (n)
cow
(Bos Taurus)
Mammalia RARS2 34 35
  • 89.97 (n)
mouse
(Mus musculus)
Mammalia Rars2 34 16 35
  • 86.1 (n)
rat
(Rattus norvegicus)
Mammalia Rars2 34
  • 86.04 (n)
oppossum
(Monodelphis domestica)
Mammalia RARS2 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RARS2 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves RARS2 34 35
  • 72.97 (n)
lizard
(Anolis carolinensis)
Reptilia RARS2 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rars2 34
  • 64.12 (n)
zebrafish
(Danio rerio)
Actinopterygii rars2 34 35
  • 58.45 (n)
zgc63702 34
fruit fly
(Drosophila melanogaster)
Insecta CG10092 34 35
  • 48.9 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010086 34
  • 47.88 (n)
worm
(Caenorhabditis elegans)
Secernentea rars-2 35
  • 28 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YDR341C 34
  • 49.84 (n)
-- 35
  • 37 (a)
ManyToMany
MSR1 35
  • 35 (a)
ManyToMany
-- 37
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A07040g 34
  • 49.17 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL206C 34
  • 47.02 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mrs1 34
  • 50.31 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08195 34
  • 47.82 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
OneToOne
Species where no ortholog for RARS2 was found in the sources mined by GeneCards:
  • 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
rs145297855 Pathogenic 87,529,647(+) CCAGA(A/C/T)GCTAA nc-transcript-variant, reference, missense
rs147391618 Pathogenic 87,589,923(+) ATACC(C/T)GGCAA nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs199835443 Pathogenic 87,524,588(+) ACTTC(A/C/G)CATTA nc-transcript-variant, reference, missense, stop-gained
rs387907048 Pathogenic 87,521,475(-) ATACA(A/G)TGATA nc-transcript-variant, reference, missense
rs757743894 Pathogenic 87,545,677(+) GCTTC(-/TTT)GAGAT nc-transcript-variant, cds-indel

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

Variant ID Type Subtype PubMed ID
dgv6085n100 CNV gain 25217958
esv2283561 CNV deletion 18987734
esv2569279 CNV deletion 19546169
esv2658829 CNV deletion 23128226
esv2732391 CNV deletion 23290073
esv3284718 CNV deletion 24192839
esv3540110 CNV deletion 23714750
esv6087 CNV loss 19470904
nsv1074418 CNV deletion 25765185
nsv1114851 CNV deletion 24896259
nsv511905 CNV loss 21212237
nsv957549 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
RARS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RARS2

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

Disorders for RARS2 Gene

MalaCards: The human disease database

(3) 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
pontocerebellar hypoplasia
  • pch
- 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 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS. (PMID: 15779907) Bonnefond L. … Sissler M. (Biochemistry 2005) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  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 64

Products for RARS2 Gene

Sources for RARS2 Gene

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