MT-RNR2

Chr MT

l-rRNA

Also known as: MTRNR2

NCBI Gene: 4550 ENSG00000210082 UniProt: A0A3G1DJN1 OMIM: 561010

This gene encodes the mitochondrial 16S ribosomal RNA component of the large mitoribosomal subunit that is required for translation of all mtDNA-encoded proteins. Mutations cause cardiomyopathy and MELAS-like presentations with maternal inheritance. The gene also encodes the humanin peptide.

OMIM ResearchSummary from Curated mito context

Enables several functions, including identical protein binding activity; receptor antagonist activity; and receptor ligand activity. Involved in several processes, including cellular response to amyloid-beta; negative regulation of cellular component organization; and negative regulation of cytokine production. Acts upstream of with a positive effect on cell surface receptor signaling pathway via STAT. Located in several cellular components, including mitochondrion; perinuclear region of cytoplasm; and sperm midpiece. Is active in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Gene–disease validity (ClinGen)

Limited · mitochondrial disease · MT · ClinGen 2025

not for standalone diagnostic reporting

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Nuclear-gene analyses omitted

MT-RNR2 is a mitochondrial rRNA gene. gnomAD constraint, carrier burden and exome coverage, the ClinVar type breakdown, the protein lollipop, AlphaFold and transcript-architecture views are built for nuclear genes and are not shown. Population data for mtDNA variants (gnomAD v3.1, homoplasmy and heteroplasmy) is on each variant page.

Where it sits in the mitochondrial genome

Tap or hover a gene, landmark or tick; genes open their page, ticks their variant.

proteinrRNAtRNAouter ring H-strand · inner L-strandMITOMAP confirmedreported (as of 2026-10-07)

37 genes from Ensembl (rCRS numbering, matched to MITOMAP’s Gene Loci); landmarks and disease alleles from MITOMAP (CC BY 3.0). Circular layout after MitoWheel.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

MITOMAP Disease Variants — MT-RNR2

Live table ↗

Variant	Disease	Status	GenBank seqs
m.2156A>AA	Possible association with sepsis	Reported	225
m.2158T>C	Reduced risk PD	Reported	259
m.2336T>C	Hypertrophic cardiomyopathy	Reported	0
m.2352T>C	Possibly LVNC-associated / fibromyalgia / PCOS patient	Reported	1,900
m.2361G>A	Possibly LVNC-associated	Reported	157
m.2492G>A	Possible association with sepsis	Reported	1
m.2639C>A	Rare mutation in a single POAG patient	Reported	1
m.2639C>T	Proposed hg-specific mitigation of APOE4 pathogenicity	Reported	175
m.2647G>A	Possible association with sepsis	Reported	1
m.2648T>C	Rett Syndrome	Reported	1
m.2706A>A	Increased risk of T2DM in haplogroup H	Reported	13,912
m.2755A>G	Possibly LVNC-associated / PCOS patient	Reported	302
m.2806T>A	Possible association with sepsis	Reported	0
m.2835C>T	Rett Syndrome	Reported	74
m.3010G>A	Cyclic Vomiting Syndrome with Migraine / high altitude adaptation	Reported	9,752
m.3054G>A	Possible association with sepsis	Reported	0
m.3090G>A	Myopathy	Reported	2
m.3093C>G	MELAS	Reported	0
m.3096T>C	Possible association with sepsis	Reported	18
m.3098T>C	Possible association with sepsis	Reported	0
m.3111A>T	Migraine	Reported	7
m.3196G>A	ADPD	Reported	18