CARS2

Protein identityUniProt · HPA

UniProt accession

Q9HA77

Gene

CARS2

Ensembl

ENSG00000134905

Chromosome

13

Canonical length

564 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Mitochondria

OverviewNCBI 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 likely to be imported to the mitochondrion where it is thought to catalyze the ligation of cysteine to tRNA molecules. A splice-site mutation in this gene has been associated with a novel progressive myoclonic epilepsy disease with similar symptoms to MERRF syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017]

Canonical amino-acid sequenceUniProt

564 residues, UniProt reviewed canonical sequence.

>Q9HA77|CARS2
     1  MLRTTRGPGL GPPLLQAALG LGRAGWHWPA GRAASGGRGR AWLQPTGRET GVQVYNSLTG
    61  RKEPLIVAHA EAASWYSCGP TVYDHAHLGH ACSYVRFDII RRILTKVFGC SIVMVMGITD
   121  VDDKIIKRAN EMNISPASLA SLYEEDFKQD MAALKVLPPT VYLRVTENIP QIISFIEGII
   181  ARGNAYSTAK GNVYFDLKSR GDKYGKLVGV VPGPVGEPAD SDKRHASDFA LWKAAKPQEV
   241  FWASPWGPGR PGWHIECSAI ASMVFGSQLD IHSGGIDLAF PHHENEIAQC EVFHQCEQWG
   301  NYFLHSGHLH AKGKEEKMSK SLKNYITIKD FLKTFSPDVF RFFCLRSSYR SAIDYSDSAM
   361  LQAQQLLLGL GSFLEDARAY MKGQLACGSV REAMLWERLS STKRAVKAAL ADDFDTPRVV
   421  DAILGLAHHG NGQLRASLKE PEGPRSPAVF GAIISYFEQF FETVGISLAN QQYVSGDGSE
   481  ATLHGVVDEL VRFRQKVRQF ALAMPEATGD ARRQQLLERQ PLLEACDTLR RGLTAHGINI
   541  KDRSSTTSTW ELLDQRTKDQ KSAG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CARS2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.29

Highest tissue expression

43 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CARS2.

Disease | AllUniProt

Conditions CARS2 is implicated in, by any mechanism.

• Combined oxidative phosphorylation deficiency 27 (COXPD27) MIM:616672

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 852 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Combined oxidative phosphorylation defect type 27
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.84

gnomAD pLI

0

gnomAD missense Z

0.25

DepMap mean gene effect

-0.22

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cysteinyl-tRNA aminoacylation

Molecular functions

• ATP binding
• cysteine-tRNA ligase activity
• metal ion binding

Cellular components

• cytoplasm
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Aminoacyl-tRNA synthetase, class Ia, anticodon-binding
• Rossmann-like alpha/beta/alpha sandwich fold
• Cysteine-tRNA ligase
• Cysteinyl-tRNA synthetase/mycothiol ligase
• tRNA synthetases class I, catalytic domain
• tRNA synthetases class I (C) catalytic domain

KeywordsUniProt

• Aminoacyl-tRNA synthetase
• ATP-binding
• Ligase
• Metal-binding
• Mitochondrion
• Nucleotide-binding
• Primary mitochondrial disease
• Protein biosynthesis
• Transit peptide
• Zinc