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

Gene ID: 4550, updated on 10-Oct-2023

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; protein self-association; and receptor antagonist activity. Involved in several processes, including leukocyte chemotaxis; negative regulation of cell death; and negative regulation of neuroinflammatory response. Located in several cellular components, including mitochondrion; perinuclear region of cytoplasm; and sperm midpiece. [provided by Alliance of Genome Resources, Apr 2022]
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Genomic context

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Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) MT (non-nuclear) NC_012920.1 (1671..3229)
105.20220307 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. The mitochondrial derived peptide humanin is a regulator of lifespan and healthspan. Yen K, et al. Aging (Albany NY), 2020 Jun 23. PMID 32575074, Free PMC Article
  2. Comparison of serum concentrations of humanin in women with and without gestational diabetes mellitus. Ma Y, et al. Gynecol Endocrinol, 2018 Dec. PMID 29909696
  3. Serum humanin concentrations in women with pre-eclampsia compared to women with uncomplicated pregnancies. Nikolakopoulos P, et al. J Matern Fetal Neonatal Med, 2018 Feb. PMID 28110609
  4. The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease. Elson JL, et al. Mitochondrion, 2015 Nov. PMID 26349026, Free PMC Article
  5. 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

See all (25) 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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