PARS2

Protein identityUniProt · HPA

UniProt accession

Q7L3T8

Gene

PARS2

Ensembl

ENSG00000162396

Chromosome

1

Canonical length

475 aa

Protein class

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

Subcellular location

Nucleoli fibrillar center,Mitochondria

OverviewNCBI Gene

This gene encodes a putative member of the class II 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 proline to tRNA molecules. Mutations have been found in this gene in some patients with Alpers syndrome. [provided by RefSeq, Mar 2015]

Canonical amino-acid sequenceUniProt

475 residues, UniProt reviewed canonical sequence.

>Q7L3T8|PARS2
     1  MEGLLTRCRA LPALATCSRQ LSGYVPCRFH HCAPRRGRRL LLSRVFQPQN LREDRVLSLQ
    61  DKSDDLTCKS QRLMLQVGLI YPASPGCYHL LPYTVRAMEK LVRVIDQEMQ AIGGQKVNMP
   121  SLSPAELWQA TNRWDLMGKE LLRLRDRHGK EYCLGPTHEE AITALIASQK KLSYKQLPFL
   181  LYQVTRKFRD EPRPRFGLLR GREFYMKDMY TFDSSPEAAQ QTYSLVCDAY CSLFNKLGLP
   241  FVKVQADVGT IGGTVSHEFQ LPVDIGEDRL AICPRCSFSA NMETLDLSQM NCPACQGPLT
   301  KTKGIEVGHT FYLGTKYSSI FNAQFTNVCG KPTLAEMGCY GLGVTRILAA AIEVLSTEDC
   361  VRWPSLLAPY QACLIPPKKG SKEQAASELI GQLYDHITEA VPQLHGEVLL DDRTHLTIGN
   421  RLKDANKFGY PFVIIAGKRA LEDPAHFEVW CQNTGEVAFL TKDGVMDLLT PVQTV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PARS2 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)

0.28

Highest tissue expression

5.1 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PARS2.

Disease | AllUniProt

Conditions PARS2 is implicated in, by any mechanism.

• Developmental and epileptic encephalopathy 75 (DEE75) MIM:618437

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 216 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Developmental and epileptic encephalopathy, 75
• 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)

0.88

gnomAD pLI

0

gnomAD missense Z

0.29

DepMap mean gene effect

-0.53

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• prolyl-tRNA aminoacylation

Molecular functions

• ATP binding
• proline-tRNA ligase activity

Cellular components

• mitochondrial matrix
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Aminoacyl-tRNA synthetase, class II (G/ P/ S/T)
• Anticodon-binding
• Aminoacyl-tRNA synthetase, class II
• Anticodon-binding domain superfamily
• Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL)
• Proline-tRNA synthetase
• tRNA synthetase class II core domain (G, H, P, S and T)
• Anticodon binding domain
• Proline-tRNA ligase, class IIa
• Prokaryote proline-tRNA ligase core domain

KeywordsUniProt

• Aminoacyl-tRNA synthetase
• ATP-binding
• Epilepsy
• Ligase
• Mitochondrion
• Nucleotide-binding
• Protein biosynthesis
• Transit peptide