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MARS2 methionyl-tRNA synthetase 2, mitochondrial [ Homo sapiens (human) ]

Gene ID: 92935, updated on 13-Feb-2019

Summary

Official Symbol
MARS2provided by HGNC
Official Full Name
methionyl-tRNA synthetase 2, mitochondrialprovided by HGNC
Primary source
HGNC:HGNC:25133
See related
Ensembl:ENSG00000247626 MIM:609728
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
MetRS; COXPD25; mtMetRS
Summary
This gene produces a mitochondrial methionyl-tRNA synthetase protein that is encoded by the nuclear genome and imported to the mitochondrion. This protein likely functions as a monomer and is predicted to localize to the mitochondrial matrix. Mutations in this gene are associated with the autosomal recessive neurodegenerative disease spastic ataxia-3 (SPAX3). [provided by RefSeq, Apr 2014]
Orthologs

Genomic context

See MARS2 in Genome Data Viewer
Location:
2q33.1
Exon count:
1
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (197705304..197708390)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (198570028..198573114)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene HSPE1-MOB4 readthrough Neighboring gene MOB family member 4, phocein Neighboring gene RNY5 pseudogene 2 Neighboring gene raftlin family member 2 Neighboring gene boule homolog, RNA binding protein Neighboring gene uncharacterized LOC105373828

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Ataxia, spastic, 3, autosomal recessive
MedGen: C1969645 OMIM: 611390 GeneReviews: Not available
Compare labs
Combined oxidative phosphorylation deficiency 25
MedGen: C4225329 OMIM: 616430 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
methionine-tRNA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
methionine-tRNA ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
methionine-tRNA ligase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
methionyl-tRNA aminoacylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
methionyl-tRNA aminoacylation IDA
Inferred from Direct Assay
more info
PubMed 
tRNA aminoacylation for protein translation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
methionine--tRNA ligase, mitochondrial
Names
methionine tRNA ligase 2, mitochondrial
methionine--tRNA ligase 2
methionine-tRNA synthetase 2, mitochondrial
NP_612404.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_034122.1 RefSeqGene

    Range
    5001..8087
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_138395.3NP_612404.1  methionine--tRNA ligase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_612404.1

    Status: REVIEWED

    Source sequence(s)
    BC009115, BC040934, DC342319
    Consensus CDS
    CCDS33358.1
    UniProtKB/Swiss-Prot
    Q96GW9
    Related
    ENSP00000282276.6, ENST00000282276.7
    Conserved Domains (1) summary
    PRK11893
    Location:46581
    PRK11893; methionyl-tRNA synthetase; Reviewed

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    197705304..197708390
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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