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

Gene ID: 4550, updated on 4-Jan-2025

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, Jan 2025]
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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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