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Aliases for RARS2 Gene

Aliases for RARS2 Gene

  • Arginyl-TRNA Synthetase 2, Mitochondrial 2 3 5
  • RARSL 3 4
  • ArgRS 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
  • EC 6.1.1.19 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. Gene Ontology (GO) annotations related to this gene include aminoacyl-tRNA ligase activity. An important paralog of this gene is RARS.

Additional gene information for RARS2 Gene

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

Genomics for RARS2 Gene

GeneHancer (GH) Regulatory Elements for RARS2 Gene

Promoters and enhancers for RARS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J087587 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 693.8 +0.3 329 3.6 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 RARS2 GC06P087588 ORC3 SLC35A1 C6orf163 ZNF292
GH06J087591 Enhancer 0.3 Ensembl 650.7 -1.9 -1884 0.2 ZBTB33 ORC3 RARS2 GC06P087659
GH06J087151 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 80.8 +435.6 435617 6.4 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF292 ENSG00000272008 RARS2 SLC35A1 RCN1P1 TAF13P1 ST13P16 SMIM8 LINC01590 ORC3
GH06J087472 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 32.1 +116.8 116835 2.1 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B IRF4 SLC35A1 ZNF292 RARS2 ENSG00000272008 ORC3 C6orf163 GC06P087489 ENSG00000213204
GH06J087697 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 16.1 -110.3 -110340 6.6 ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 MEF2D AKIRIN2 GC06M087700 SLC35A1 ENSG00000272008 ORC3 ZNF292 LINC01590 RARS2 SMIM8 GC06P087659
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RARS2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RARS2 gene promoter:

Genomic Locations for RARS2 Gene

Genomic Locations for RARS2 Gene
chr6:87,499,347-87,590,017
(GRCh38/hg38)
Size:
90,671 bases
Orientation:
Minus strand
chr6:88,224,096-88,299,735
(GRCh37/hg19)

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 Lys446 and Lys115
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RARS2 Gene

Domains & Families for RARS2 Gene

Gene Families for RARS2 Gene

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

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

Phenotypes From GWAS Catalog for RARS2 Gene

Gene Ontology (GO) - Molecular Function for RARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
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 --
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:
  • Rars2 Rars2<tm1a(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for RARS2

Clone 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
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 RARS2 gene
Compartment Confidence
mitochondrion 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion 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, Investigational Nutra 0
L-Arginine Approved Nutra Full agonist, Agonist 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

(1) Additional Compounds for RARS2 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 RARS2: view

Transcripts for RARS2 Gene

Unigene Clusters for RARS2 Gene

Arginyl-tRNA synthetase 2, mitochondrial:
Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 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

Evidence on tissue expression from TISSUES for RARS2 Gene

  • Nervous system(3.8)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RARS2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • skull
  • tongue
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with RARS2: view

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 33
  • 99.94 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RARS2 34 33
  • 91.58 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RARS2 34 33
  • 89.97 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rars2 16 34 33
  • 86.1 (n)
rat
(Rattus norvegicus)
Mammalia Rars2 33
  • 86.04 (n)
oppossum
(Monodelphis domestica)
Mammalia RARS2 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RARS2 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves RARS2 34 33
  • 72.97 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RARS2 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rars2 33
  • 64.12 (n)
zebrafish
(Danio rerio)
Actinopterygii rars2 34 33
  • 58.45 (n)
OneToOne
zgc63702 33
fruit fly
(Drosophila melanogaster)
Insecta CG10092 34 33
  • 48.9 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010086 33
  • 47.88 (n)
worm
(Caenorhabditis elegans)
Secernentea rars-2 34
  • 28 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YDR341C 33
  • 49.84 (n)
-- 34
  • 37 (a)
ManyToMany
MSR1 34
  • 35 (a)
ManyToMany
-- 36
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A07040g 33
  • 49.17 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL206C 33
  • 47.02 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mrs1 33
  • 50.31 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08195 33
  • 47.82 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RARS2: view image

Paralogs for RARS2 Gene

Paralogs for RARS2 Gene

(15) SIMAP similar genes for RARS2 Gene using alignment to 2 proteins:

  • SYRM_HUMAN
  • H0Y450_HUMAN
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 Variation AA Info Type
rs1057519014 uncertain-significance, Severe intellectual deficiency 87,548,635(-) A/G 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1085307089 uncertain-significance, Pontocerebellar hypoplasia type 6 87,564,154(-) AA/A 5_prime_UTR_variant, coding_sequence_variant, frameshift, non_coding_transcript_variant
rs117516147 uncertain-significance, Pontoneocerebellar hypoplasia 87,524,658(-) A/G intron_variant, non_coding_transcript_variant
rs139721632 uncertain-significance, not specified, Pontoneocerebellar hypoplasia 87,529,602(-) C/A/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs140692271 uncertain-significance, Pontoneocerebellar hypoplasia, not specified 87,530,801(-) A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

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)

Additional Variant Information for RARS2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for RARS2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for RARS2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for RARS2

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 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 (American journal of human genetics 2007) 2 3 4 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  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 58
  4. 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 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for RARS2 Gene

Sources for RARS2 Gene

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