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MT-RNR2 Gene

RNA gene   GIFtS: 30
GCID: GCMTP001674

Mitochondrially Encoded 16S RNA


(Previous symbol: MTRNR2)
  See related diseases
at  

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

Quality score for this RNA gene is 3

Aliases
Mitochondrially Encoded 16S RNA1
MTRNR21 2
formyl-humanin1
humanin1
RNR22
l-rRNA2

External Ids:    HGNC: 74711   Entrez Gene: 45502   Ensembl: ENSG000002100827   OMIM: 5610105   UniProtKB: Q8IVG93   

Export aliases for MT-RNR2 gene to outside databases

Previous GC identifer: GC00U921595


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MT-RNR2 Gene:
MT-RNR2 (mitochondrially encoded 16S RNA) is an RNA gene, and is affiliated with the Mt_rRNA class. Diseases associated with MT-RNR2 include chronic progressive external ophthalmoplegia, and ophthalmoplegia.

UniProtKB/Swiss-Prot: HUNIN_HUMAN, Q8IVG9
Function: Plays a role as a neuroprotective factor. Protects against death induced by multiple different familial
Alzheimer disease genes and beta amyloid 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




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for MT-RNR2
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MT-RNR2


Genomic Location:
Chromosome:MT   

Ensembl cytogenetic band:  MT   HGNC chromosome: mitochondria

GeneLoc information about chromosome MT         GeneLoc Exon Structure

GeneLoc location for GCMTP001674:       (about GC identifiers)

Start:
1,671 bp from pter      End:
3,229 bp from pter
Size:
1,559 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HUNIN_HUMAN, Q8IVG9 (See protein sequence)
Recommended Name: Putative humanin peptide  
Size: 24 amino acids; 2687 Da
Subunit: Interacts with BAX, IGFBP3 and TRIM11
Caution: Product of a dubious CDS prediction. The sequence shown is derived from a portion of the mitochondrial
MT-RNR2 gene (PubMed:12009529). The existence of this protein sequence in vivo is possibly dubious. No mechanism
has been demonstrated for its production and translocation to the cytoplasm and extracellular space. If
translated in the mitochondrion rather than the cytoplasm, the usage of the mitochondrial genetic code would lead
to the production of a shorter peptide lacking the last three C-terminal residues. An alternative possibility is
that the true physiological humanin peptide is encoded by one or more of several nuclear loci apparently derived
from MT-RNR2 (PubMed:19477263)
2 PDB 3D structures from and Proteopedia for MT-RNR2:
1Y32 (3D)        2GD3 (3D)    

Explore the universe of human proteins at neXtProt for MT-RNR2: NX_Q8IVG9

Reactome Protein details: Q8IVG9

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

1 InterPro protein domain:
 IPR028139 Humanin

Graphical View of Domain Structure for InterPro Entry Q8IVG9

ProtoNet protein and cluster: Q8IVG9

UniProtKB/Swiss-Prot: HUNIN_HUMAN, Q8IVG9
Domain: Largely unstructured in aqueous solution
Similarity: Belongs to the humanin family


MT-RNR2 for domains           About GeneDecksing


(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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: HUNIN_HUMAN, Q8IVG9
Function: Plays a role as a neuroprotective factor. Protects against death induced by multiple different familial
Alzheimer disease genes and beta amyloid 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
Induction: Release is regulated by intracellular mechanism. The intracellular level is regulated by TRIM11 through
proteasome-mediated degradation

Animal Models:

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
HUNIN_HUMAN, Q8IVG9: Secreted. Cytoplasm

(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for MT-RNR2 About    
See pathways by source

SuperPathContained pathways About
1CFTR translational fidelity class I mutations
Ribosome0.54
2Ribosome biogenesis in eukaryotes
Ribosome biogenesis in eukaryotes
3Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins
Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


1 GeneGo (Thomson Reuters) Pathway for MT-RNR2
    Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins

3 Reactome Pathways for MT-RNR2
    Formyl peptide receptors bind formyl peptides and many other ligands
G alpha (q) signalling events
G alpha (i) signalling events


2 Kegg Pathways  (Kegg details for MT-RNR2):
    Ribosome biogenesis in eukaryotes
Ribosome


MT-RNR2 for pathways           About GeneDecksing

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MT-RNR2
Interactions:

    GeneGlobe Interaction Network for MT-RNR2

Selected Interacting proteins for MT-RNR2 (Q8IVG92, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
InteractantInteraction Details
GeneCardExternal ID(s)
BAXQ078122, 3MINT-19415 MINT-19412 MINT-19414 MINT-19413 I2D: score=2 
BAK1Q166112, 3MINT-19416 I2D: score=1 
BCL2P104152, 3MINT-19417 I2D: score=1 
BCL2L1Q078172, 3MINT-19418 I2D: score=1 
BCL2L10Q9HD362, 3MINT-19419 I2D: score=1 
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
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Browse Tocris compounds for MT-RNR2 (HUNIN)



(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000387347(Mt_rRNA)
miRNA
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Primer
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GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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Expression evidence for MT-RNR2:none

MT-RNR2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
MT-RNR2 Expression
About this image

MT-RNR2 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

UniProtKB/Swiss-Prot: HUNIN_HUMAN, Q8IVG9
Tissue specificity: Expressed in the heart, skeletal muscles, kidney and liver. Lesser but significant expression
is observed in the brain and the gastrointestinal tract. Expressed in the AD brain, where it is found in some of
the large intact neurons of the occipital lobes and small and round reactive glial cells in the hippocampus

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In Situ
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(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)
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  --

ENSEMBL Gene Tree for MT-RNR2 (if available)
TreeFam Gene Tree for MT-RNR2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for MT-RNR2 gene
5 SIMAP similar genes for MT-RNR2 using alignment to 1 protein entry:     HUNIN_HUMAN:
MTRNR2L1    MTRNR2L8    MTRNR2L2    MTRNR2L6    MTRNR2L5

MT-RNR2 for paralogs           About GeneDecksing



(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Human Gene Mutation Database (HGMD): MT-RNR2
Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing MT-RNR2
DNA2.0 Custom Variant and Variant Library Synthesis for MT-RNR2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 561010    OMIM disorders: --

8 diseases for MT-RNR2:    
About MalaCards
chronic progressive external ophthalmoplegia    ophthalmoplegia    myopathy    parkinson's disease
diabetes mellitus    alzheimer's disease    colorectal cancer    neuronitis


MT-RNR2 for disorders           About GeneDecksing

Genetic Association Database (GAD): MT-RNR2

Export disorders for MT-RNR2 gene to outside databases

(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)
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PubMed articles for MT-RNR2 gene, integrated from 10 sources (see all 25):
(articles sorted by number of sources associating them with MT-RNR2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. [Study on the mitochondrial DNA variation in patients with type 2 diabetes mellitus]. (PubMed id 17407074)1, 4 Ji J.Z....Wang D.W. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007)
  2. Mitochondrial polymorphisms as risk factors for endometrial cancer in southwest China. (PubMed id 16884381)1, 4 Xu L....Xiao C. (Int. J. Gynecol. Cancer 2006)
  3. Solution structure of humanin, a peptide against Alzheimer's disease- related neurotoxicity. (PubMed id 15721287)1, 2 Benaki D....Pelecanou M. (Biochem. Biophys. Res. Commun. 2005)
  4. The G1888A variant in the mitochondrial 16S rRNA gene may be associated with Type 2 diabetes in Caucasian-Brazilian patients from southern Brazil. (PubMed id 16401312)1, 4 Crispim D....Roisenberg I. (Diabet. Med. 2005)
  5. Genotyping Parkinson disease-associated mitochondrial polymorphisms. (PubMed id 15931342)1, 4 Jiang Y....Greenlee A.R. (amp 2004)
  6. Evidence for in vivo production of Humanin peptide, a neuroprotective factor against Alzheimer's disease-related insults. (PubMed id 12009529)2, 3 Tajima H.... Nishimoto I. (Neurosci. Lett. 2002)
  7. A rescue factor abolishing neuronal cell death by a wide spectrum of familial Alzheimer's disease genes and Abeta. (PubMed id 11371646)1, 2 Hashimoto Y.... Nashimoto I. (Proc. Natl. Acad. Sci. U.S.A. 2001)
  8. Genotyping mitochondrial DNA single nucleotide polymorphisms by PCR ligase detection reactions. (PubMed id 20128730)1 Luo Y....Gao Y. (Clin. Chem. Lab. Med. 2010)
  9. Evidence for potential functionality of nuclearly-encoded humanin isoforms. (PubMed id 19477263)2 Bodzioch M....Dembinska-Kiec A. (Genomics 2009)
  10. Involvement of mitochondrial DNA sequence variations and respiratory activity in late complications following radiotherapy. (PubMed id 19920115)1 Alsbeih G.A....Abu-Amero K.K. (Clin. Cancer Res. 2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 4550 HGNC: 7471 Ensembl:ENSG00000210082 euGenes: HUgn4550 ECgene: MT-RNR2 Kegg: 4550
H-InvDB: MT-RNR2

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for MT-RNR2 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for MT-RNR2 gene:
Search GeneIP for patents involving MT-RNR2

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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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