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 ... See more...

Aliases for PARS2 Gene

Aliases for PARS2 Gene

  • Prolyl-TRNA Synthetase 2, Mitochondrial 2 3 5
  • Prolyl-TRNA Synthetase 2, Mitochondrial (Putative) 2 3
  • Proline TRNA Ligase 2, Mitochondrial (Putative) 2 3
  • Probable Proline--TRNA Ligase, Mitochondrial 3 4
  • EC 6.1.1.15 4 50
  • ProRS 3 4
  • Prolyl-TRNA Synthetase 4
  • DKFZp727A071 2
  • MT-PRORS 3
  • EIEE75 3
  • DEE75 3
  • PARS2 5

External Ids for PARS2 Gene

Previous GeneCards Identifiers for PARS2 Gene

  • GC01M054935
  • GC01M054995
  • GC01M055222
  • GC01M053336

Summaries for PARS2 Gene

Entrez Gene Summary for PARS2 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]

GeneCards Summary for PARS2 Gene

PARS2 (Prolyl-TRNA Synthetase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with PARS2 include Developmental And Epileptic Encephalopathy 75 and Undetermined Early-Onset Epileptic Encephalopathy. Among its related pathways are tRNA Aminoacylation and Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleotide binding and proline-tRNA ligase activity. An important paralog of this gene is TARS2.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PARS2 Gene

Genomics for PARS2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PARS2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PARS2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PARS2

Top Transcription factor binding sites by QIAGEN in the PARS2 gene promoter:
  • AREB6
  • GR
  • GR-alpha
  • GR-beta
  • ITF-2
  • Lmo2
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • Tal-1beta

Genomic Locations for PARS2 Gene

Latest Assembly
chr1:54,756,898-54,764,523
(GRCh38/hg38)
Size:
7,626 bases
Orientation:
Minus strand

Previous Assembly
chr1:55,222,571-55,230,196
(GRCh37/hg19 by Entrez Gene)
Size:
7,626 bases
Orientation:
Minus strand

chr1:55,222,571-55,230,187
(GRCh37/hg19 by Ensembl)
Size:
7,617 bases
Orientation:
Minus strand

Genomic View for PARS2 Gene

Genes around PARS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PARS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PARS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PARS2 Gene

Proteins for PARS2 Gene

  • Protein details for PARS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7L3T8-SYPM_HUMAN
    Recommended name:
    Probable proline--tRNA ligase, mitochondrial
    Protein Accession:
    Q7L3T8
    Secondary Accessions:
    • A8K0W4
    • Q9H6S5
    • Q9UFT1

    Protein attributes for PARS2 Gene

    Size:
    475 amino acids
    Molecular mass:
    53263 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB15178.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for PARS2 Gene

Selected DME Specific Peptides for PARS2 Gene

Q7L3T8:
  • GLLRGREF
  • KFRDEPRP
  • EVLLDDR
  • LGPTHEE
  • RPRFGLLR

Post-translational modifications for PARS2 Gene

  • Ubiquitination at Lys139 and Lys175
  • Modification sites at PhosphoSitePlus

Other Protein References for PARS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PARS2 Gene

Gene Families for PARS2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for PARS2 Gene

InterPro:
Blocks:
  • Anticodon binding domain
  • Prolyl-tRNA synthetase signature

Suggested Antigen Peptide Sequences for PARS2 Gene

GenScript: Design optimal peptide antigens:
  • Proline--tRNA ligase (SYPM_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7L3T8

UniProtKB/Swiss-Prot:

SYPM_HUMAN :
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
Family:
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with PARS2: view

Function for PARS2 Gene

Molecular function for PARS2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-proline + tRNA(Pro) = AMP + diphosphate + L-prolyl-tRNA(Pro); Xref=Rhea:RHEA:14305, Rhea:RHEA-COMP:9700, Rhea:RHEA-COMP:9702, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:60039, ChEBI:CHEBI:78442, ChEBI:CHEBI:78532, ChEBI:CHEBI:456215; EC=6.1.1.15;.

Enzyme Numbers (IUBMB) for PARS2 Gene

Phenotypes From GWAS Catalog for PARS2 Gene

Gene Ontology (GO) - Molecular Function for PARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004827 proline-tRNA ligase activity IBA 21873635
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with PARS2: view
genes like me logo Genes that share phenotypes with PARS2: view

Human Phenotype Ontology for PARS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

  • Taconic Biosciences Mouse Models for PARS2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PARS2

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PARS2 Gene

Localization for PARS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PARS2 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 PARS2 gene
Compartment Confidence
mitochondrion 4
cytosol 3
cytoskeleton 2
plasma membrane 1
extracellular 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IBA 21873635
GO:0005759 mitochondrial matrix IEA --
genes like me logo Genes that share ontologies with PARS2: view

Pathways & Interactions for PARS2 Gene

PathCards logo

SuperPathways for PARS2 Gene

genes like me logo Genes that share pathways with PARS2: view

Pathways by source for PARS2 Gene

1 KEGG pathway for PARS2 Gene

Gene Ontology (GO) - Biological Process for PARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation IEA --
GO:0006433 prolyl-tRNA aminoacylation IBA 21873635
genes like me logo Genes that share ontologies with PARS2: view

No data available for SIGNOR curated interactions for PARS2 Gene

Drugs & Compounds for PARS2 Gene

(3) Drugs for PARS2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra 0
Proline Nutra Target 52

(5) Additional Compounds for PARS2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
genes like me logo Genes that share compounds with PARS2: view

Transcripts for PARS2 Gene

mRNA/cDNA for PARS2 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PARS2

Alternative Splicing Database (ASD) splice patterns (SP) for PARS2 Gene

No ASD Table

Relevant External Links for PARS2 Gene

GeneLoc Exon Structure for
PARS2

Expression for PARS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PARS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Spleen (Hematopoietic System)

Protein differential expression in normal tissues from HIPED for PARS2 Gene

This gene is overexpressed in Testis (14.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PARS2 Gene



Protein tissue co-expression partners for PARS2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PARS2

SOURCE GeneReport for Unigene cluster for PARS2 Gene:

Hs.380169

Evidence on tissue expression from TISSUES for PARS2 Gene

  • Liver(4.3)
  • Nervous system(4.3)
  • Muscle(4.3)
genes like me logo Genes that share expression patterns with PARS2: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PARS2 Gene

Orthologs for PARS2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PARS2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PARS2 29 30
  • 99.72 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PARS2 29 30
  • 87.86 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PARS2 29
  • 85.54 (n)
Rat
(Rattus norvegicus)
Mammalia Pars2 29
  • 83.65 (n)
Mouse
(Mus musculus)
Mammalia Pars2 29 16 30
  • 83.16 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PARS2 30
  • 74 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PARS2 30
  • 61 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PARS2 29 30
  • 68.38 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PARS2 30
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pars2 29
  • 60.45 (n)
Zebrafish
(Danio rerio)
Actinopterygii pars2 29 30
  • 63.22 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003589 29
  • 54.14 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Aats-pro 29 30
  • 53.51 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea pars-2 29 30
  • 48.39 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ACR233W 29
  • 48.75 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AIM10 29 30 32
  • 47.04 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E19801g 29
  • 45.2 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU09892 29
  • 50.69 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC24C6.03 29
  • 49.32 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 42 (a)
OneToOne
Species where no ortholog for PARS2 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 Vase (Ciona intestinalis)
  • 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 PARS2 Gene

ENSEMBL:
Gene Tree for PARS2 (if available)
TreeFam:
Gene Tree for PARS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PARS2: view image
Alliance of Genome Resources:
Additional Orthologs for PARS2

Paralogs for PARS2 Gene

Paralogs for PARS2 Gene

genes like me logo Genes that share paralogs with PARS2: view

Variants for PARS2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PARS2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1036176 Uncertain Significance: not provided 54,759,049(-) C/T
NM_152268.4(PARS2):c.113G>A (p.Arg38Gln)
MISSENSE
982976 Uncertain Significance: Developmental and epileptic encephalopathy, 75 54,758,033(-) G/A
NM_152268.4(PARS2):c.1129C>T (p.Pro377Ser)
MISSENSE
983148 Uncertain Significance: Developmental and epileptic encephalopathy, 75 54,758,822(-) C/T
NM_152268.4(PARS2):c.340G>A (p.Gly114Ser)
MISSENSE
998644 Uncertain Significance: not provided 54,758,048(-) C/T
NM_152268.4(PARS2):c.1114G>A (p.Ala372Thr)
MISSENSE
998656 Uncertain Significance: not provided 54,758,606(-) T/C
NM_152268.4(PARS2):c.556A>G (p.Arg186Gly)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PARS2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PARS2 Gene

Variant ID Type Subtype PubMed ID
dgv166n100 CNV gain 25217958
dgv38e212 CNV gain 25503493
nsv1000673 CNV gain 25217958
nsv1004778 CNV gain 25217958
nsv461561 CNV gain 19166990
nsv461594 CNV gain 19166990
nsv546266 CNV gain 21841781
nsv546269 CNV gain 21841781
nsv817614 CNV gain 22305530

Variation tolerance for PARS2 Gene

Residual Variation Intolerance Score: 29.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.28; 76.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PARS2 Gene

Human Gene Mutation Database (HGMD)
PARS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PARS2
Leiden Open Variation Database (LOVD)
PARS2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PARS2 Gene

Disorders for PARS2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for PARS2 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search PARS2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYPM_HUMAN
  • Epileptic encephalopathy, early infantile, 75 (EIEE75) [MIM:618437]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE75 is an autosomal recessive form characterized by onset of severe refractory seizures in the first months of life. {ECO:0000269 PubMed:25629079, ECO:0000269 PubMed:28077841, ECO:0000269 PubMed:29410512, ECO:0000269 PubMed:29915213, ECO:0000269 PubMed:30237576}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Additional Disease Information for PARS2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PARS2: view

No data available for Genatlas for PARS2 Gene

Publications for PARS2 Gene

  1. Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome. (PMID: 25629079) Sofou K … Asin-Cayuela J (Molecular genetics & genomic medicine 2015) 2 3 4 72
  2. The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy. (PMID: 29915213) Yin X … Li N (Journal of human genetics 2018) 3 4 72
  3. Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations. (PMID: 29410512) Ciara E … Pronicka E (Journal of human genetics 2018) 3 4
  4. PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder. (PMID: 28077841) Mizuguchi T … Matsumoto N (Journal of human genetics 2017) 3 4
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40

Products for PARS2 Gene

Sources for PARS2 Gene