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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MT-RNR1 Gene

RNA gene   GIFtS: 22
GCID: GCMTP000651

Mitochondrially Encoded 12S RNA

(Previous name: 12S RNA)
(Previous symbol: MTRNR1)
  17 related diseases
at
MalaCards
 

Aliases
for MT-RNR1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
Subcategory (RNA class): Mt_rRNA

Quality score for this RNA gene is 3

Aliases
Mitochondrially Encoded 12S RNA1
MTRNR11 2
12S RNA1
RNR12
s-rRNA2

External Ids:    HGNC: 74701   Entrez Gene: 45492   Ensembl: ENSG000002114597   OMIM: 5610005   

Export aliases for MT-RNR1 gene to outside databases

Previous GC identifer: GC00U921594


Summaries
for MT-RNR1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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 myelocystocele, and cloacal exstrophy, and among its related super-pathways are Viral mRNA Translation.


Genomic Views
for MT-RNR1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
 Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for MT-RNR1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MT-RNR1


Genomic Location:
Chromosome:MT   

Ensembl cytogenetic band:  MT   HGNC chromosome: mitochondria

GeneLoc information about chromosome MT         GeneLoc Exon Structure

GeneLoc location for GCMTP000651:       (about GC identifiers)

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

Proteins
for MT-RNR1 gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
UniProtKB: --

Protein Domains /
Families
for MT-RNR1 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
 HGNC Gene Families: 
RRNA: ncRNAs / Ribosomal RNA genes

  --

Function
for MT-RNR1 gene

(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section
Animal Models:
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miRNA
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Inhib. RNA
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Gene Editing
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In Situ Assay
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Pathways & Interactions
for MT-RNR1 gene

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for MT-RNR1 About                                                                                                See pathways by source

SuperPathContained pathways About
1Viral mRNA Translation
Ribosome0.59
2Ribosome biogenesis in eukaryotes
Ribosome biogenesis in eukaryotes

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



2         Kegg Pathways  (Kegg details for MT-RNR1):
    Ribosome biogenesis in eukaryotes
Ribosome


MT-RNR1 for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MT-RNR1

Drugs & Compounds
for MT-RNR1 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
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Browse Tocris compounds for MT-RNR1

Search CenterWatch for drugs/clinical trials and news about MT-RNR1

Transcripts
for MT-RNR1 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000389680(Mt_rRNA)
miRNA
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Inhib. RNA
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Clone
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Primer
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GeneLoc Exon Structure


Expression
for MT-RNR1 gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

Expression evidence for MT-RNR1:none

MT-RNR1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
MT-RNR1 Expression
About this image

    SABiosciences Custom PCR Arrays for MT-RNR1
Primer
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In Situ
Assay Products: 
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Orthologs
for MT-RNR1 gene

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section
   --

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

Paralogs
for MT-RNR1 gene

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
  --

Genomic Variants
for MT-RNR1 gene

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

Human Gene Mutation Database (HGMD): MT-RNR1
SABiosciences Cancer Mutation PCR Assays
Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MT-RNR1
DNA2.0 Custom Variant and Variant Library Synthesis for MT-RNR1

Disorders / Diseases
for MT-RNR1 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
 OMIM gene information: 561000    OMIM disorders: --

17 diseases for MT-RNR1:    About MalaCards
myelocystocele    cloacal exstrophy    idiopathic bilateral vestibulopathy    mt-rnr1-related hearing loss and deafness
congenital cytomegalovirus    nonsyndromic hearing loss and deafness, mitochondrial    sensorineural hearing loss    cytomegalovirus infection
nonsyndromic hearing loss and deafness    mitochondrial disorders    ophthalmoplegia    myopathy
diabetes mellitus    obesity    colorectal cancer    prostate cancer
prostatitis


MT-RNR1 for disorders           About GeneDecksing

GeneTests: MT-RNR1
GeneReviews: MT-RNR1
Genetic Association Database (GAD): MT-RNR1

Export disorders for MT-RNR1 gene to outside databases

Publications
for MT-RNR1 gene

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for MT-RNR1 gene, integrated from 9 sources (see all 80):
(articles sorted by number of sources associating them with MT-RNR1)		    Utopia: connect your pdf to the dynamic
world of online information

  1. [Screening of the mitochondrial 12S rRNA (MTRNR1) gene in probands with sensorineural hearing loss] (PubMed id 17527057)1, 4 Circir Y.E....Tekin M. (2007)
  2. Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment. (PubMed id 17357124)1, 4 Samanich J....Morrow B.E. (2007)
  3. Mutational analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in Tunisian patients with nonsyndromic hearing loss. (PubMed id 16406239)1, 4 Mkaouar-Rebai E....Fakhfakh F. (2006)
  4. Prevalence of the A1555G (12S rRNA) and tRNASer(UCN) mitochondrial mutations in hearing-impaired Brazilian patients. (PubMed id 16470309)1, 4 Abreu-Silva R.S....Mingroni-Netto R.C. (2006)
  5. Variation of mitochondrial gene and the association with type 2 diabetes mellitus in a Chinese population. (PubMed id 16414144)1, 4 Tang D.L....Liu F. (2006)
  6. Mitochondrial genome polymorphisms associated with type-2 diabetes or obesity. (PubMed id 16060290)1, 4 Guo L.J....Tanaka M. (2005)
  7. Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss. (PubMed id 15841390)1, 4 Li Z....Guan M.X. (2005)
  8. [Mutation of mitochondrial 12S rRNA in gastric carcinomas and its significance] (PubMed id 15996314)1, 4 Han C.B....Wu D.Y. (2005)
  9. Audiologic testing and molecular analysis of 12S rRNA in patients receiving aminoglycosides. (PubMed id 15805873)1, 4 Gurtler N....Lalwani A.K. (2005)
  10. Genetic features, clinical phenotypes, and prevalence of sensorineural hearing loss associated with the 961delT mitochondrial mutation. (PubMed id 15917167)1, 4 Kobayashi K....Usami S. (2005)

External Searches for MT-RNR1 gene

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Disorders
Free Text  
  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

Genome Databases showing MT-RNR1 gene

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 4549 HGNC: 7470 Ensembl:ENSG00000211459 euGenes: HUgn4549 ECgene: MT-RNR1 Kegg: 4549
H-InvDB: MT-RNR1

Other Databases showing MT-RNR1 gene

(According to HUGE)
About This Section
   --

Specialized Databases showing MT-RNR1 gene

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for MT-RNR1 Pharmacogenomics, SNPs, Pathways

Intellectual Property
for MT-RNR1 gene

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for MT-RNR1 gene:
Search GeneIP for patents involving MT-RNR1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



Products
for MT-RNR1 gene

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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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