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Aliases for MT-RNR1 Gene

Subcategory (RNA class) for MT-RNR1 Gene


Quality Score for this RNA gene is


Aliases for MT-RNR1 Gene

  • Mitochondrially Encoded 12S RNA 2
  • 12S RNA 2
  • S-RRNA 3
  • MTRNR1 3
  • RNR1 3

External Ids for MT-RNR1 Gene

Previous HGNC Symbols for MT-RNR1 Gene

  • MTRNR1

Previous GeneCards Identifiers for MT-RNR1 Gene

  • GC00U921594

Summaries for MT-RNR1 Gene

GeneCards Summary for MT-RNR1 Gene

MT-RNR1 (Mitochondrially Encoded 12S RNA) is an RNA Gene, and is affiliated with the Mt_rRNA class. Diseases associated with MT-RNR1 include restrictive cardiomyopathy and auditory neuropathy. Among its related pathways are Ribosome biogenesis in eukaryotes and CFTR translational fidelity (class I mutations).

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MT-RNR1 Gene

Genomics for MT-RNR1 Gene

Genomic Location for MT-RNR1 Gene

648 bp from pter
1,601 bp from pter
954 bases
Plus strand

Genomic View for MT-RNR1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:

RefSeq DNA sequence for MT-RNR1 Gene

No data available for Regulatory Elements for MT-RNR1 Gene

Proteins for MT-RNR1 Gene

Post-translational modifications for MT-RNR1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for MT-RNR1 Gene

Domains for MT-RNR1 Gene

Gene Families for MT-RNR1 Gene

  • RRNA :ncRNAs / Ribosomal RNA genes

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MT-RNR1: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for MT-RNR1 Gene

Function for MT-RNR1 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for MT-RNR1 Gene

Localization for MT-RNR1 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for MT-RNR1 Gene

Pathways for MT-RNR1 Gene

genes like me logo Genes that share pathways with MT-RNR1: view

Pathways by source for MT-RNR1 Gene

2 KEGG pathways for MT-RNR1 Gene
1 GeneGo (Thomson Reuters) pathway for MT-RNR1 Gene

Interacting Proteins for MT-RNR1 Gene

Gene Ontology (GO) - Biological Process for MT-RNR1 Gene


Transcripts for MT-RNR1 Gene

mRNA/cDNA for MT-RNR1 Gene

(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for MT-RNR1 Gene

No ASD Table

Relevant External Links for MT-RNR1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MT-RNR1 Gene

mRNA expression in normal human tissues for MT-RNR1 Gene

mRNA differential expression in normal tissues according to GTEx for MT-RNR1 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (4.7) and Brain - Amygdala (4.1).
genes like me logo Genes that share expressions with MT-RNR1: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Expression partners for MT-RNR1 Gene

Orthologs for MT-RNR1 Gene

Evolution for MT-RNR1 Gene

Gene Tree for MT-RNR1 (if available)
Gene Tree for MT-RNR1 (if available)

No data available for Orthologs for MT-RNR1 Gene

Paralogs for MT-RNR1 Gene

No data available for Paralogs for MT-RNR1 Gene

Variants for MT-RNR1 Gene

Relevant External Links for MT-RNR1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar and Structural Variations from Database of Genomic Variants (DGV) for MT-RNR1 Gene

Disorders for MT-RNR1 Gene

Relevant External Links for MT-RNR1

Genetic Association Database (GAD)
genes like me logo Genes that share disorders with MT-RNR1: view

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for MT-RNR1 Gene

Publications for MT-RNR1 Gene

  1. Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment. (PMID: 17357124) Samanich J. … Morrow B.E. (Am. J. Med. Genet. A 2007) 3 48
  2. [Screening of the mitochondrial 12S rRNA (MTRNR1) gene in probands with sensorineural hearing loss]. (PMID: 17527057) CirAsir Y.E. … Tekin M. (Kulak Burun Bogaz Ihtis Derg 2007) 3 48
  3. Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment. (PMID: 19338775) de Moraes V.C. … Sartorato E.L. (Biochem. Biophys. Res. Commun. 2009) 3 23
  4. Genetic susceptibility to aminoglycoside ototoxicity: how many are at risk? (PMID: 12394346) Tang H.Y. … Alford R.L. (Genet. Med. 2002) 3 48
  5. [Incidence of A1555G mutations in the mitochondrial DNA and 35delG in the GJB2 gene (connexin-26) in families with late onset non-syndromic sensorineural hearing loss from Cantabria]. (PMID: 12530196) Gallo-TerA!n J. … Moreno F. (Acta Otorrinolaringol Esp 2002) 3 48

Products for MT-RNR1 Gene

Sources for MT-RNR1 Gene

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