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    MT-RNR2 mitochondrially encoded 16S RNA [ Homo sapiens (human) ]

    Gene ID: 4550, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MT-RNR2provided by HGNC
    Official Full Name
    mitochondrially encoded 16S RNAprovided by HGNC
    Primary source
    HGNC:HGNC:7471
    See related
    MIM:561010; AllianceGenome:HGNC:7471
    Gene type
    rRNA
    RNA name
    l-rRNA
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MTRNR2; RNR2
    Summary
    Enables G protein-coupled receptor binding activity; identical protein binding activity; and receptor antagonist activity. Involved in several processes, including cellular response to amyloid-beta; negative regulation of macromolecule metabolic process; and regulation of defense response. Located in several cellular components, including mitochondrion; perinuclear region of cytoplasm; and sperm midpiece. [provided by Alliance of Genome Resources, Nov 2024]
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    Genomic context

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    See MT-RNR2 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 (1671..3229)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) MT (non-nuclear) NC_012920.1 (1671..3229)

    Chromosome MT - NC_012920.1Genomic Context describing neighboring genes Neighboring gene s-rRNA Neighboring gene tRNA-Val Neighboring gene tRNA-Leu Neighboring gene NADH dehydrogenase subunit 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. High-frequency involved hearing loss caused by novel mitochondrial DNA mutation in 16S ribosomal RNA gene. Abe S, et al. Otol Neurotol, 2014 Jul. PMID 24770403
    2. [Study on the mitochondrial DNA variation in patients with type 2 diabetes mellitus]. Ji JZ, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2007 Apr. PMID 17407074
    3. A novel mutation 3090 G>A of the mitochondrial 16S ribosomal RNA associated with myopathy. Coulbault L, et al. Biochem Biophys Res Commun, 2007 Oct 26. PMID 17761147
    4. Cosegregation of novel mitochondrial 16S rRNA gene mutations with the age-associated T414G variant in human cybrids. Seibel P, et al. Nucleic Acids Res, 2008 Oct. PMID 18796524, Free PMC Article
    5. Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia. Kin T, et al. J Hum Genet, 2006. PMID 16639504

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of new variants in MTRNR1 and MTRNR2 genes using whole mitochondrial genome sequencing in a Taiwanese family with MERRF (myoclonic epilepsy with ragged-red fibers) syndrome.
      Title: Identification of new variants in MTRNR1 and MTRNR2 genes using whole mitochondrial genome sequencing in a Taiwanese family with MERRF (myoclonic epilepsy with ragged-red fibers) syndrome.
    2. The mitochondrial derived peptide humanin is a regulator of lifespan and healthspan.
      Title: The mitochondrial derived peptide humanin is a regulator of lifespan and healthspan.
    3. Serum levels of humanin (MT-RNR2) are lower in women with gestational diabetes mellitus than in control women.
      Title: Comparison of serum concentrations of humanin in women with and without gestational diabetes mellitus.
    4. serum humanin concentrations increased in women with pre-eclampsia, compared to women with uncomplicated pregnancies
      Title: Serum humanin concentrations in women with pre-eclampsia compared to women with uncomplicated pregnancies.
    5. Levels of lactate and mitochondrial pyruvate carrier (MPC1) mRNA were determined to scrutinize the prevalence of aerobic glycolysis..MT-RNR2 plays its anti-apoptotic role partly by avoiding deploying energy from complete oxidation of organic compounds to inorganic wastes. Thus MT-RNR2 can potentially serve as a new biomarker in the diagnosis of bladder carcinoma especially that it is present in blood circulation
      Title: Breaking the ritual metabolic cycle in order to save acetyl CoA: A potential role for mitochondrial humanin in T2 bladder cancer aggressiveness.
    6. highly disruptive 16S rRNA mutations are present in clinical samples
      Title: The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease.
    7. Data show methylation status of two mitochondrial genes MT-RNR1 and MT-RNR2 encoding for mitochondrial 12S and 16S ribosomal RNAs, respectively.
      Title: Age-and gender-related pattern of methylation in the MT-RNR1 gene.
    8. Mitochondrial gene mutations may cause late-onset, progressive, and ski-sloping sensorineural hearing loss.
      Title: High-frequency involved hearing loss caused by novel mitochondrial DNA mutation in 16S ribosomal RNA gene.
    9. This study reports a mitochondrial 16S rRNA 2336T>C mutation that is associated with maternally inherited hypertrophic cardiomyopathy combined with atrioventricular block.
      Title: The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    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

    Miscellaneous features

    • Loc: 3107 preserves historical genome annotation numbering

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