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    MT-TE mitochondrially encoded tRNA glutamic acid [ Homo sapiens (human) ]

    Gene ID: 4556, updated on 19-Sep-2012
    Official Symbol
    MT-TEprovided by HGNC
    Official Full Name
    mitochondrially encoded tRNA glutamic acidprovided by HGNC
    Primary source
    HGNC:7479
    See related
    MIM:590025
    Gene type
    tRNA
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MTTE; TRNE
    Location :
    isolation source: caucasian, tissue type: placenta, country: United Kingdom: Great Britain
    Sequence :
    Chromosome: MT; NC_012920.1 (14674..14742, complement)
    See MT-TE in Epigenomics, MapViewer

    Chromosome MT - NC_012920.1Genomic Context describing neighboring genes Neighboring gene NADH dehydrogenase, subunit 5 (complex I) Neighboring gene NADH dehydrogenase, subunit 6 (complex I) Neighboring gene cytochrome b Neighboring gene tRNA

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. The heteroplasmic m.14709T>C mutation in the tRNA(Glu) gene in two Tunisian families with mitochondrial diabetes. Mezghani N, et al. J Diabetes Complications, 2010 Jul-Aug. PMID 20045353.
    2. A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis. Meulemans A, et al. Eur J Paediatr Neurol, 2007 Jan. PMID 17161635.
    3. Variation of mitochondrial gene and the association with type 2 diabetes mellitus in a Chinese population. Tang DL, et al. Diabetes Res Clin Pract, 2006 Jul. PMID 16414144.
    4. [Association of mitochondrial DNA variation with type 2 diabetes mellitus]. Tang DL, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2005 Dec. PMID 16331560.
    5. Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes. Uusimaa J, et al. Pediatrics, 2004 Aug. PMID 15286228.

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. The m.14709T>C mutation in the tRNA(Glu) gene could be a cause of mitochondrial diabetes in Tunisian affected families.
      Title: The heteroplasmic m.14709T>C mutation in the tRNA(Glu) gene in two Tunisian families with mitochondrial diabetes.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Variation of mitochondrial gene and the association with type 2 diabetes mellitus in a Chinese population.
    3. Observational study of genotype prevalence. (HuGE Navigator)
      Title: Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes.
    4. We report 2 siblings with the m.14709T>C mutation in the mitochondrial tRNA(Glu) gene. The first patient showed hydrops fetalis, a new presentation within the clinical spectrum of this mutation, and the other a known presentation namely mild myopathy.
      Title: A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.
    Submit: New GeneRIF Correction

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

    Review eQTL and phenotype association data in this region using PheGenI

    Markers

    Genotypes

    • NAR: 0697

    Gene LinkOut

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      Supplemental Content

      Table of contents

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      • ClinVar
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      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GTR
        GTR associated with a gene
      • Map Viewer
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      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
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      • Probe
        Related Probe entry
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • SNP: Genotype
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        Link to related taxonomy entry
      • UniSTS
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