CARS2 (cysteinyl-tRNA synthetase 2, mitochondrial)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79587
Gene name Gene Name - the full gene name approved by the HGNC.
Cysteinyl-tRNA synthetase 2, mitochondrial
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CARS2
Synonyms (NCBI Gene) Gene synonyms aliases
COXPD27, cysRS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
COXPD27
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q34
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a putative member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is like
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs557671802 G>A Pathogenic Non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs727505361 C>T Likely-pathogenic, pathogenic Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs753472937 CTC>- Pathogenic 5 prime UTR variant, inframe deletion, non coding transcript variant, coding sequence variant
rs1258446331 AA>- Likely-pathogenic Non coding transcript variant, frameshift variant, coding sequence variant
rs1412483498 G>- Likely-pathogenic Frameshift variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, intron variant, upstream transcript variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
miRTarBase ID miRNA Experiments Reference
MIRT020814 hsa-miR-155-5p Proteomics 18668040
MIRT029604 hsa-miR-26b-5p Microarray 19088304
MIRT047820 hsa-miR-30d-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
GO ID Ontology Definition Evidence Reference
GO:0004817 Function Cysteine-tRNA ligase activity IBA 21873635
GO:0005524 Function ATP binding IBA 21873635
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005759 Component Mitochondrial matrix IEA
GO:0006423 Process Cysteinyl-tRNA aminoacylation IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612800 25695 ENSG00000134905
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9HA77
Protein name Probable cysteine--tRNA ligase, mitochondrial (EC 6.1.1.16) (Cysteinyl-tRNA synthetase) (CysRS)
Protein function Mitochondrial cysteine-specific aminoacyl-tRNA synthetase that catalyzes the ATP-dependent ligation of cysteine to tRNA(Cys). ; In addition to its role as an aminoacyl-tRNA synthetase, has also cysteine pe
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01406 tRNA-synt_1e 65 → 365 tRNA synthetases class I (C) catalytic domain Family
Sequence 
MLRTTRGPGLGPPLLQAALGLGRAGWHWPAGRAASGGRGRAWLQPTGRETGVQVYNSLTG
RKEPLIVAHAEAASWYSCGPTVYDHAHLGHACSYVRFDIIRRILTKVFGCSIVMVMGITD
VDDKIIKRANEMNISPASLASLYEEDFKQDMAALKVLPPTVYLRVTENIPQIISFIEGII
ARGNAYSTAKGNVYFDLKSRGDKYGKLVGVVPGPVGEPADSDKRHASDFALWKAAKPQEV
FWASPWGPGRPGWHIECSAIASMVFGSQLDIHSGGIDLAFPHHENEIAQCEVFHQCEQWG
NYFLHSGHLHAKGKEEKMSKSLKNYITIKDFLKTFSPDVFRFFCLRSSYRSAIDYSDSAM
LQAQQLLLGLGSFLEDARAYMKGQLACGSVREAMLWERLSSTKRAVKAALADDFDTPRVV
DAILGLAHHGNGQLRASLKEPEGPRSPAVFGAIISYFEQFFETVGISLANQQYVSGDGSE
ATLHGVVDELVRFRQKVRQFALAMPEATGDARRQQLLERQPLLEACDTLRRGLTAHGINI
KDRSSTTSTWELLDQRTKDQKSAG
Sequence length 564
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Aminoacyl-tRNA biosynthesis  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (7)
Causal
Disease term Disease name dbSNP ID References
Autism Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Combined oxidative phosphorylation deficiency COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, Combined oxidative phosphorylation defect type 27 rs587776508, rs576462794, rs118203917, rs387906327, rs139430866, rs387906962, rs138119149, rs387907061, rs1562800908, rs397515421, rs397514598, rs397514610, rs397514611, rs397514612, rs201431517
View all (155 more)		 30139652, 25787132, 25361775
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Developmental regression Developmental regression rs1224421127
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Mitochondrial Diseases mitochondrial disease GenCC
Show/Hide Text Mining Associations (2)
Associations from Text Mining
Disease Name Relationship Type References
Colorectal Neoplasms Associate 36299603
Parkinson Disease Associate 34064523