MT-RNR2

mitochondrially encoded 16S rRNA, the group of Mitochondrially encoded ribosomal RNAs|Receptor ligands

Basic information

Region (hg38): M:1671-3229

Previous symbols: [ "MTRNR2" ]

Links

ENSG00000210082

∙ NCBI:4550 ∙ OMIM:561010 ∙ HGNC:7471 ∙ Uniprot:Q8IVG9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

mitochondrial disease (Limited), mode of inheritance: Mitochondrial

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Chloramphenicol toxicity/resistance	Maternal	Pharmacogenomic	Medication selection would be impacted in individuals with variants; Sensitivity to streptomycin has been suggested as well	General	14233236; 5785754; 6273808; 7219548

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MT-RNR2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MT-RNR2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

Variants in MT-RNR2

This is a list of pathogenic ClinVar variants found in the MT-RNR2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Phenotype	Significance	ClinVar
M-1736-A-G	Mitochondrial inheritance	Uncertain significance (-)	1344551
M-1836-A-G		Uncertain significance (Oct 29, 2014)	235585
M-1955-G-A		Uncertain significance (Jun 10, 2022)	3337331
M-1983-T-C		Uncertain significance (Jul 06, 2022)	3337332
M-2333-G-A		Uncertain significance (Jul 26, 2022)	3337333
M-2393-CA-C		Likely benign (Aug 12, 2015)	235254
M-2483-T-C		Uncertain significance (May 29, 2015)	235652
M-2550-A-T	See cases	Uncertain significance (Aug 12, 2019)	931582
M-2939-C-A	Chloramphenicol resistance	Pathogenic (Nov 11, 1981)	9627
M-2991-T-C	Chloramphenicol resistance	Pathogenic (Nov 11, 1981)	9626
M-3003-A-G		Uncertain significance (Dec 01, 2023)	3337334
M-3010-G-A		not provided (-)	441149
M-3169-C-T		Uncertain significance (Jan 16, 2017)	377249

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Plays a role as a neuroprotective factor. Protects against death induced by multiple different familial Alzheimer disease genes and amyloid-beta proteins in Alzheimer disease. Suppresses apoptosis by binding to BAX and preventing the translocation of BAX from the cytosol to mitochondria. Binds to IGFBP3 and specifically blocks IGFBP3-induced cell death Induces chemotaxis of mononuclear phagocytes via FPR2. Reduces the aggregation and fibrillary formation by suppressing the effect of APP on mononuclear phagocytes and acts by competitively inhibiting the access of FPRL1 to APP. {ECO:0000269|PubMed:11371646, ECO:0000269|PubMed:11717357, ECO:0000269|PubMed:12732850, ECO:0000269|PubMed:14561895, ECO:0000269|PubMed:15153530}.;
Pathway: Ribosome biogenesis in eukaryotes - Homo sapiens (human);Ribosome - Homo sapiens (human);Signaling by GPCR;Signal Transduction;Formyl peptide receptors bind formyl peptides and many other ligands;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Mouse Genome Informatics

Gene name: mt-Rnr2
Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; muscle phenotype;

Gene ontology

Biological process: cellular iron ion homeostasis;apoptotic process;G protein-coupled receptor signaling pathway;leukocyte chemotaxis;negative regulation of apoptotic process;extracellular negative regulation of signal transduction;negative regulation of execution phase of apoptosis
Cellular component: extracellular region;mitochondrion;perinuclear region of cytoplasm
Molecular function: signaling receptor binding;protein binding;receptor antagonist activity