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MT-TL2 mitochondrially encoded tRNA leucine 2 (CUN) [ Homo sapiens (human) ]

Gene ID: 4568, updated on 10-Oct-2023

Summary

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Official Symbol
MT-TL2provided by HGNC
Official Full Name
mitochondrially encoded tRNA leucine 2 (CUN)provided by HGNC
Primary source
HGNC:HGNC:7491
See related
MIM:590055; AllianceGenome:HGNC:7491
Gene type
tRNA
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MTTL2; TRNL2
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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 (12266..12336)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) MT (non-nuclear) NC_012920.1 (12266..12336)

Chromosome MT - NC_012920.1Genomic Context describing neighboring genes Neighboring gene tRNA-His Neighboring gene tRNA-Ser Neighboring gene NADH dehydrogenase subunit 5 Neighboring gene NADH dehydrogenase subunit 6

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. Clinical and cellular consequences of the mutation m.12300G>A in the mitochondrial tRNA(Leu(CUN)) gene. Martín-Jiménez R, et al. Mitochondrion, 2012 Mar. PMID 22094595
  2. Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA. Cardaioli E, et al. J Neurol Sci, 2008 Sep 15. PMID 18603265
  3. Increased risk of oral cancer in relation to common Indian mitochondrial polymorphisms and Autosomal GSTP1 locus. Datta S, et al. Cancer, 2007 Nov 1. PMID 17886251
  4. [Study on the mitochondrial DNA mutations in familial diabetes mellitus in Chinese population]. Wang SJ, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2009 Feb. PMID 19199242
  5. Mitochondrial DNA variant interactions modify breast cancer risk. Covarrubias D, et al. J Hum Genet, 2008. PMID 18709563, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Significant reduction of total ATP and mitochondrial membrane potential and an increased production of reactive oxygen species were observed in a patient with mutation m.12300G>A in the mitochondrial tRNA(Leu(CUN)) gene.
    Title: Clinical and cellular consequences of the mutation m.12300G>A in the mitochondrial tRNA(Leu(CUN)) gene.
  2. Observational study of gene-disease association and genetic testing. (HuGE Navigator)
    Title: Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss.
  3. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: Involvement of mitochondrial DNA sequence variations and respiratory activity in late complications following radiotherapy.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association between mitochondrial DNA variations and Alzheimer's disease in the ADNI cohort.
  5. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Increased risk of oral cancer in relation to common Indian mitochondrial polymorphisms and Autosomal GSTP1 locus.
  6. Observational study of genetic testing. (HuGE Navigator)
    Title: Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations.
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: 1097

Gene LinkOut

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Other Literature Sources
Molecular Biology Databases