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

Gene ID: 4568, updated on 12-Sep-2024

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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See MT-TL2 in Genome Data Viewer
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) MT (non-nuclear) NC_012920.1 (12266..12336)
RS_2024_09 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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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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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
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Research Materials