Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MT-RNR1 Gene

Subcategory (RNA class) for MT-RNR1 Gene

Mt_rRNA

Quality Score for this RNA gene is

3

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 Symbols for MT-RNR1 Gene

  • MTRNR1

Summaries for MT-RNR1 Gene

GeneCards Summary for MT-RNR1 Gene

MT-RNR1 (Mitochondrially Encoded 12S RNA) is a RNA Gene, and belongs to Mt_rRNA RNA class. Diseases associated with MT-RNR1 include cloacal exstrophy and myelocystocele. 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

Start:
648 bp from pter
End:
1,601 bp from pter
Size:
954 bases
Orientation:
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

HGNC:
  • RRNA :ncRNAs / Ribosomal RNA genes
genes like me logo Genes that share domains with MT-RNR1: view

No data available for Protein Domains 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 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

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

Interacting Proteins for MT-RNR1 Gene

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

None

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
MT-RNR1
ECgene alternative splicing isoforms for
MT-RNR1

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

Orthologs for MT-RNR1 Gene

Evolution for MT-RNR1 Gene

ENSEMBL:
Gene Tree for MT-RNR1 (if available)
TreeFam:
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
MT-RNR1
Human Gene Mutation Database (HGMD)
MT-RNR1

No data available for 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

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

No data available for UniProtKB/Swiss-Prot 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 49
  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 49
  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 49
  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 49

Products for MT-RNR1 Gene

Sources for MT-RNR1 Gene

Back to Top

Content