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MIR518A2 Gene

RNA gene   GIFtS: 19
GCID: GC19P054242

MicroRNA 518a-2


(Previous symbols: MIRN518A-2, MIRN518A2)
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(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): miRNA

Quality score for this RNA gene is 4

Aliases
MicroRNA 518a-21 2
MIRN518A-21 2
MIRN518A21 2
mir-518a-29

External Ids:    HGNC: 321231   Entrez Gene: 5744912   Ensembl: ENSG000002076997   
ORGUL members:    fRNAdb10:FR080555 FR235658 FR080555 FR272499      
miRBase:MIMAT0002862 MI0003173 MIMAT0002863    
Rfam:RF00639    

Export aliases for MIR518A2 gene to outside databases

Previous GC identifers: GC19P058973 GC19P059017


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MIR518A2 Gene:
microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of
gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are
transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can
be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme
to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the
cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The
mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through
imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of
the target mRNA. The RefSeq represents the predicted microRNA stem-loop. (provided by RefSeq, Sep 2009)

GeneCards Summary for MIR518A2 Gene:
MIR518A2 (microRNA 518a-2) is an RNA gene, and is affiliated with the miRNA class.



fRNAdb sequence ontologies for MIR518A2 - the ORGUL cluster for this gene includes several descriptions:
microRNA mir-515 -
miRNA - Small, ~22-nt, RNA molecule that is the endogenous transcript of a miRNA gene. Micro RNAs are produced from precursor molecules (SO:0000647) that can form local hairpin structures, which ordinarily are processed (via the Dicer pathway) such that a single miRNA molecule accumulates from one arm of a hairpin precursor molecule. Micro RNAs may trigger the cleavage of their target molecules or act as translational repressors.
pre_miRNA - The 60-70 nucleotide region remain after Drosha processing of the primary transcript, that folds back upon itself to form a hairpin sructure.

View fRNAdb secondary structures for MIR518A2

(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 MIR518A2
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MIR518A2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.42   Ensembl cytogenetic band:  19q13.42   HGNC cytogenetic band: 19q13.42

MIR518A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MIR518A2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P054242:  view genomic region (via miRBase)     (about GC identifiers)

Start:
54,242,587 bp from pter      End:
54,242,673 bp from pter
Size:
87 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for MIR518A2

(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB: --


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
MIR: ncRNAs / Micro RNAs

  --

(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for MIR518A2

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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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  --

(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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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MIR518A2
Interactions:

    Search GeneGlobe Interaction Network for MIR518A2

(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 Tocris compounds for MIR518A2



(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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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2 fRNAdb Secondary structures:


1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000384966(miRNA)
miRNA
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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 MIR518A2:none

See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --

MIR518A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --
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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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This gene was present in the common ancestor of human and chimp.

Orthologs for MIR518A2 gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia ptr-mir-518a6
ptr-mir-518a
95(a)
1 ↔ 1
19(58647509-58647594)


ENSEMBL Gene Tree for MIR518A2 (if available)
TreeFam Gene Tree for MIR518A2 (if available)

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

(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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Selected SNPs for MIR518A2 (see all 55)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1462111741,2
--54240708(+) GACCCA/GGGGTT 1 -- us2k10--------
rs1122885731,2
C,F--54240717(+) TTTTCC/TCATGT 1 -- us2k12Minor allele frequency- T:0.04WA 120
rs1479974851,2
--54240784(+) AGAGTG/TCTGGG 1 -- us2k10--------
rs104077901,2
C,F--54240808(+) gccacC/Tgcacc 1 -- us2k11Minor allele frequency- T:0.03WA 118
rs116675531,2
C,H--54240815(+) CACCCG/AGCCCT 1 -- us2k14Minor allele frequency- A:0.08NA WA EA 360
rs104134391,2
C,F,A,H--54240981(+) tcttcC/Aaccca 1 -- us2k113Minor allele frequency- A:0.06NS EA NA CSA WA 1392
rs1848321151,2
C--54241005(+) ACTTTC/GCATCT 1 -- us2k10--------
rs116675441,2
C,F,A,H--54241040(+) TGGGCA/GTGTCA 1 -- us2k18Minor allele frequency- G:0.09NS EA NA 664
rs573156701,2
C,F--54241202(+) GGAATG/AGAGTC 1 -- us2k12Minor allele frequency- A:0.02WA 120
rs104138811,2
C,F,A--54241207(+) GGAGTC/GGGGCG 1 -- us2k13Minor allele frequency- G:0.09CSA WA NA 240

HapMap Linkage Disequilibrium report for MIR518A2 (54242587 - 54242673 bp)

Structural Variations
     Database of Genomic Variants (DGV) 8 variations for MIR518A2:    About this table    
Variant IDTypeSubtypePubMed ID
esv2448351CNV Deletion19546169
esv2718837CNV Deletion23290073
esv2718833CNV Deletion23290073
esv2718838CNV Deletion23290073
esv2718812CNV Deletion23290073
nsv458781CNV Gain19166990
nsv912385CNV Gain21882294
dgv3999n71CNV Gain21882294

Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing MIR518A2
DNA2.0 Custom Variant and Variant Library Synthesis for MIR518A2

(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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  --

(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 MIR518A2 gene integrated from 10 sources:
(articles sorted by number of sources associating them with MIR518A2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. A mammalian microRNA expression atlas based on small RNA library sequencing. (PubMed id 17604727)1 Landgraf P....Tuschl T. (Cell 2007)
  2. miRBase: microRNA sequences, targets and gene nomenclature. (PubMed id 16381832)1 Griffiths-Jones S....Enright A.J. (Nucleic Acids Res. 2006)
  3. Identification of hundreds of conserved and nonconserved human microRNAs. (PubMed id 15965474)1 Bentwich I....Bentwich Z. (Nat. Genet. 2005)

(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: 574491 HGNC: 32123 Ensembl:ENSG00000207699 miRBase: hsa-mir-518a-2 euGenes: HUgn574491
ECgene: MIR518A2 H-InvDB: MIR518A2

(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 MIR518A2 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 MIR518A2 gene:
Search GeneIP for patents involving MIR518A2

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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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 genOway)
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