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MT-TS2 mitochondrially encoded tRNA serine 2 (AGU/C) [ Homo sapiens (human) ]

Gene ID: 4575, updated on 10-Oct-2023

Summary

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Official Symbol
MT-TS2provided by HGNC
Official Full Name
mitochondrially encoded tRNA serine 2 (AGU/C)provided by HGNC
Primary source
HGNC:HGNC:7498
See related
MIM:590085; AllianceGenome:HGNC:7498
Gene type
tRNA
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MTTS2; TRNS2
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Genomic context

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See MT-TS2 in Genome Data Viewer
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) MT (non-nuclear) NC_012920.1 (12207..12265)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) MT (non-nuclear) NC_012920.1 (12207..12265)

Chromosome MT - NC_012920.1Genomic Context describing neighboring genes Neighboring gene NADH dehydrogenase subunit 4L Neighboring gene NADH dehydrogenase subunit 4 Neighboring gene tRNA-His Neighboring gene tRNA-Leu Neighboring gene NADH dehydrogenase subunit 5

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. Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy. Tuppen HA, et al. Eur J Hum Genet, 2012 Aug. PMID 22378285, Free PMC Article
  2. Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study. Poulton J, et al. Hum Mol Genet, 2002 Jun 15. PMID 12045211
  3. MELAS. Adam MP, et al. , 1993. PMID 20301411
  4. Primary Mitochondrial Disorders Overview. Adam MP, et al. , 1993. PMID 20301403
  5. MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease. Bhardwaj A, et al. BMC Bioinformatics, 2009 Aug 27. PMID 19758471, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MTTS2 mutations are an important cause of retinal and syndromic auditory impairment.
    Title: Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.
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: 1656

Gene LinkOut

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Other Literature Sources
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Research Materials