PARS2 prolyl-tRNA synthetase 2, mitochondrial [Homo sapiens (human)] - Gene

Summary

Official Symbol: PARS2provided by HGNC
Official Full Name: prolyl-tRNA synthetase 2, mitochondrialprovided by HGNC
Primary source: HGNC:HGNC:30563
See related: Ensembl:ENSG00000162396 MIM:612036; AllianceGenome:HGNC:30563
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DEE75; proRS; EIEE75; MT-PRORS
Summary: 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]
Expression: Ubiquitous expression in testis (RPKM 3.4), ovary (RPKM 2.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p32.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (54756898..54764523, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (54637123..54644748, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (55222571..55230196, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75.
Title: Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75.
study provides further evidence for validating the role of PARS2 in the pathology of related infantile-onset encephalopathy, contributing to the phenotypic features of this condition, and providing clinical and molecular insight for the diagnosis of this disease entity.
Title: The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy.
Depending on available data of six patients from three families, we describe a phenotype linked to PARS2 pathological variants. This phenotype includes: early epileptic encephalopathy, infantile spasms, and Alpers-like brain MRI changes with predominance of frontal cerebral volume loss (FCVL-AS).
Title: Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.
The individuals with PARS2 and NARS2 mutations demonstrate similar neurological features as those previously reported, with diversity in clinical presentation such as hearing loss and seizure type.
Title: PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.
The PARS2 gene produced a significant association signal in a recent replication study of all known CRS-associations and is now the first human gene to be re-sequenced within CRS research. PARS2 showed an accumulation of low-frequency variants in CRS patients compared to background populations.
Title: Chronic Rhinosinusitis Patients Show Accumulation of Genetic Variants in PARS2.
unusual 2.0 A structure showing that ATP directly locks onto and orients two parts of halofuginone (HF) onto human ProRS, so that one part of HF mimics bound proline and the other mimics the 3' end of bound tRNA.
Title: ATP-directed capture of bioactive herbal-based medicine on human tRNA synthetase.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Developmental and epileptic encephalopathy, 75 MedGen: C5193099 OMIM: 618437 GeneReviews: Not available	Compare labs

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables proline-tRNA ligase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in prolyl-tRNA aminoacylation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: probable proline--tRNA ligase, mitochondrial

Names: proline tRNA ligase 2, mitochondrial (putative); prolyl-tRNA synthetase 2, mitochondrial (putative)

NP_689481.2

EC 6.1.1.15

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_042048.1 RefSeqGene

Range

5031..12656

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_152268.4 → NP_689481.2 probable proline--tRNA ligase, mitochondrial precursor

See identical proteins and their annotated locations for NP_689481.2

Status: REVIEWED

Source sequence(s)

BC011758, DB004072

Consensus CDS

CCDS597.1

UniProtKB/Swiss-Prot

A8K0W4, Q7L3T8, Q9H6S5, Q9UFT1

Related

ENSP00000360327.3, ENST00000371279.4

Conserved Domains (2) summary

cd00779
Location:65 → 354

ProRS_core_prok; Prolyl-tRNA synthetase (ProRS) class II core catalytic domain. ProRS is a homodimer. It is responsible for the attachment of proline to the 3' OH group of ribose of the appropriate tRNA. This domain is primarily responsible for ATP-dependent formation of ...

cl00266
Location:369 → 470

HGTP_anticodon; HGTP anticodon binding domain, as found at the C-terminus of histidyl, glycyl, threonyl and prolyl tRNA synthetases, which are classified as a group of class II aminoacyl-tRNA synthetases (aaRS). In aaRSs, the anticodon binding domain is responsible for ...