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TRL-AAG2-3 tRNA-Leu (anticodon AAG) 2-3 [ Homo sapiens (human) ]

Gene ID: 7207, updated on 10-Oct-2023

Summary

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Official Symbol
TRL-AAG2-3provided by HGNC
Official Full Name
tRNA-Leu (anticodon AAG) 2-3provided by HGNC
Primary source
HGNC:HGNC:12315
See related
MIM:189932; AllianceGenome:HGNC:12315
Gene type
tRNA
RefSeq status
MODEL
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TRL1; TRNP1; TRNAL1; TRL-AAG2-1
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Genomic context

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Location:
14q11.2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (20610132..20610213)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (14807246..14807327)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (21078291..21078372)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ribonuclease A family member 11 (inactive) Neighboring gene RNASE11 and RNASE12 antisense RNA 1 Neighboring gene ribonuclease A family member 12 (inactive) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5567 Neighboring gene uncharacterized LOC124903280 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5568 Neighboring gene tRNA-Pro (anticodon AGG) 2-5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8081 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5569 Neighboring gene tRNA-Pro (anticodon AGG) 2-6 Neighboring gene tRNA-Thr (anticodon TGT) 3-1

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. The A3243G tRNALeu(UUR) mutation induces mitochondrial dysfunction and variable disease expression without dominant negative acting translational defects in complex IV subunits at UUR codons. Janssen GM, et al. Hum Mol Genet, 2007 Oct 15. PMID 17656376
  2. Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Tanaka M, et al. Biochem Biophys Res Commun, 1991 Jan 31. PMID 1899574
  3. Localization of a DNA segment encompassing four tRNA genes to human chromosome 14q11 and its use as an anchor locus for linkage analysis. Mitchell A, et al. Genomics, 1991 Dec. PMID 1686015
  4. GtRNAdb: a database of transfer RNA genes detected in genomic sequence. Chan PP, et al. Nucleic Acids Res, 2009 Jan. PMID 18984615, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The A3243G tRNALeu(UUR) mutation induces mitochondrial dysfunction and variable disease expression.
    Title: The A3243G tRNALeu(UUR) mutation induces mitochondrial dysfunction and variable disease expression without dominant negative acting translational defects in complex IV subunits at UUR codons.
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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Other Names

  • tRNA leucine 1 (anticodon CUU)
  • tRNA-Leu (AAG) 2-3
  • tRNA-Leu-AAG-2-1
  • transfer RNA leucine 1 (anticodon AAG)
  • transfer RNA leucine 1 (anticodon CUU)
  • transfer RNA-Leu (AAG) 2-1
  • transfer RNA-Leu (AAG) 2-3

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    20610132..20610213
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    14807246..14807327
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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