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    MT-TS2 mitochondrially encoded tRNA serine 2 (AGU/C) [ Homo sapiens (human) ]

    Gene ID: 4575, updated on 10-Oct-2023

    Summary

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    Official Symbol
    MT-TS2provided by HGNC
    Official Full Name
    mitochondrially encoded tRNA serine 2 (AGU/C)provided by HGNC
    Primary source
    HGNC:HGNC:7498
    See related
    MIM:590085; AllianceGenome:HGNC:7498
    Gene type
    tRNA
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MTTS2; TRNS2
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    Genomic context

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    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) MT (non-nuclear) NC_012920.1 (12207..12265)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) MT (non-nuclear) NC_012920.1 (12207..12265)

    Chromosome MT - NC_012920.1Genomic Context describing neighboring genes Neighboring gene NADH dehydrogenase subunit 4L Neighboring gene NADH dehydrogenase subunit 4 Neighboring gene tRNA-His Neighboring gene tRNA-Leu Neighboring gene NADH dehydrogenase subunit 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy. Tuppen HA, et al. Eur J Hum Genet, 2012 Aug. PMID 22378285, Free PMC Article
    2. Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study. Poulton J, et al. Hum Mol Genet, 2002 Jun 15. PMID 12045211
    3. MELAS. Adam MP, et al. , 1993. PMID 20301411
    4. Primary Mitochondrial Disorders Overview. Adam MP, et al. , 1993. PMID 20301403
    5. MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease. Bhardwaj A, et al. BMC Bioinformatics, 2009 Aug 27. PMID 19758471, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MTTS2 mutations are an important cause of retinal and syndromic auditory impairment.
      Title: Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    • NAR: 1656

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