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

Gene ID: 4556, updated on 10-Oct-2023

Summary

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Official Symbol
MT-TEprovided by HGNC
Official Full Name
mitochondrially encoded tRNA glutamic acidprovided by HGNC
Primary source
HGNC:HGNC:7479
See related
MIM:590025; AllianceGenome:HGNC:7479
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
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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 (14674..14742, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) MT (non-nuclear) NC_012920.1 (14674..14742, complement)

Chromosome MT - NC_012920.1Genomic Context describing neighboring genes Neighboring gene NADH dehydrogenase subunit 5 Neighboring gene NADH dehydrogenase subunit 6 Neighboring gene cytochrome b Neighboring gene tRNA-Thr

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. A novel homoplasmic mt-tRNA(Glu) m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency. Lundquist AA, et al. Eur J Med Genet, 2021 Oct. PMID 34400372
  2. 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
  3. 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
  4. 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
  5. 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

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A novel homoplasmic mt-tRNA(Glu) m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency.
    Title: A novel homoplasmic mt-tRNA(Glu) m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency.
  2. 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.
  3. 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.
  4. 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.
  5. 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

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)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

  • NAR: 0697

Gene LinkOut

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Other Literature Sources
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