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

SNORD115-43 Gene

RNA gene   GIFtS: 19
GCID: GC15P025494

Small Nucleolar RNA, C/D Box 115-43
  2 related diseases
at
MalaCards
 

Aliases
for SNORD115-43 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): snoRNA

Quality score for this RNA gene is 3

Aliases
Small Nucleolar RNA, C/D Box 115-431 2
HBII-52-432

External Ids:    HGNC: 330621   Entrez Gene: 1000338172   Ensembl: ENSG000002023737   
ORGUL members:    fRNAdb10:FR010059 FR247750      

Export aliases for SNORD115-43 gene to outside databases

Previous GC identifers: GC15U900709 GC15P023494 GC15P023570 GC15P023673 GC15P003618


Summaries
for SNORD115-43 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 SNORD115-43 Gene: 
SNORD115-43 (small nucleolar RNA, C/D box 115-43) is an RNA gene, and is affiliated with the snoRNA class. Diseases associated with SNORD115-43 include prader-willi syndrome, and angelman syndrome.


Genomic Views
for SNORD115-43 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:
   SABiosciences Regulatory transcription factor binding sites in the SNORD115-43 gene promoter:
         HNF-1   NF-E2   NF-E2 p45   RORalpha2   HNF-1A   
         Other transcription factors

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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SNORD115-43


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

Entrez Gene cytogenetic band: 15q11.2   Ensembl cytogenetic band:  15q11.2   HGNC cytogenetic band: 15q11.2

SNORD115-43 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNORD115-43 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P025494:  view genomic region     (about GC identifiers)

Start:
 25,494,345 bp from pter      End:
 25,494,426 bp from pter
Size:
 82 bases      Orientation:
 plus strand

Proteins
for SNORD115-43 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 SNORD115-43 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
 HGNC Gene Families: 
SNORD: ncRNAs / Small nucleolar RNAs : C/D box containing

  --

Function
for SNORD115-43 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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, 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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Pathways & Interactions
for SNORD115-43 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



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SNORD115-43

Drugs & Compounds
for SNORD115-43 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
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Browse Tocris compounds for SNORD115-43

Search CenterWatch for drugs/clinical trials and news about SNORD115-43

Transcripts
for SNORD115-43 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, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000365503(snoRNA)
miRNA
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GeneLoc Exon Structure


Expression
for SNORD115-43 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 SNORD115-43:none

SNORD115-43 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
SNORD115-43 Expression
About this image

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In Situ
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Orthologs
for SNORD115-43 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
This gene was present in the common ancestor of human and chimp.

Orthologs for SNORD115-43 gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification		 Gene Description Human
Similarity		 Orthology
Type		 Details
chimpanzee
(Pan troglodytes)		 Mammalia SNORD1156
 Small nucleolar RNA SNORD115
 99(a)
 1 ↔ 1
 15(22695414-22695495) ENSPTRG00000031511


ENSEMBL Gene Tree for SNORD115-43 (if available)
TreeFam Gene Tree for SNORD115-43 (if available)

Paralogs
for SNORD115-43 gene

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

Genomic Variants
for SNORD115-43 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

10/25 SNPs in SNORD115-43 are shown (see all 25)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance		Chr 15 posSequence#AA
Chg		TypeMore#Allele
freq		PopTotal
sample		More
----------
rs1923523651,2
--25493187(+) GGTCAC/TGCTGG 1 -- us2k10--------
rs1857211041,2
C--25493193(+) GCTGGA/GGTTCT 1 -- us2k10--------
rs1395529931,2
--25493246(+) GCCCCA/GGAGAT 1 -- us2k10--------
rs1450543701,2
--25493256(+) TTCAGA/GACTGC 1 -- us2k10--------
rs118560041,2
C,F,H--25493288(+) GGGACC/TGACCC 1 -- us2k15Minor allele frequency- T:0.44NA WA CSA 9
rs1402591561,2
--25493329(+) TCCTTC/GAGCCT 1 -- us2k10--------
rs612432051,2
C--25493416(+) CCCTGA/GGGGTT 1 -- us2k10--------
rs1512093481,2
C--25493496(+) AAAGGA/G/TTGTCC 1 -- us2k10--------
rs1889813321,2
--25493573(+) AGCCAC/TGGGGT 1 -- us2k10--------
rs1927078191,2
--25493709(+) AAGTAC/TGTGGC 1 -- us2k10--------

HapMap Linkage Disequilibrium report for SNORD115-43 (25494345 - 25494426 bp)

Structural Variations
     Database of Genomic Variants (DGV) 9 variations for SNORD115-43:    About this table     
Variant IDTypeSubtypePubMed ID
esv2749460CNV Deletion23290073
dgv2286n71CNV Loss21882294
nsv1467CNV Loss18451855
nsv456731CNV Loss19166990
esv33464CNV Gain17666407
nsv903721CNV Gain21882294
esv25915CNV Gain+Loss19812545
nsv517360CNV Gain+Loss19592680
nsv903722CNV Gain+Loss21882294

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Disorders / Diseases
for SNORD115-43 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
SNORD115-43 for disorders           About GeneDecksing

2 diseases for SNORD115-43:    About MalaCards
prader-willi syndrome    angelman syndrome


Export disorders for SNORD115-43 gene to outside databases

Publications
for SNORD115-43 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 SNORD115-43 gene integrated from 9 sources:
(articles sorted by number of sources associating them with SNORD115-43)		    Utopia: connect your pdf to the dynamic
world of online information

  1. The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A. (PubMed id 11726556)1, 3 Runte M....Buiting K. (2001)
  2. Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization. (PubMed id 11106375)1, 3 CavaillAc J....HA1ttenhofer A. (2000)
  3. Eukaryotic snoRNAs: a paradigm for gene expression fl exibility. (PubMed id 19446021)1 Dieci G....Montanini B. (2009)
  4. The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. (PubMed id 16357227)1 Kishore S. and Stamm S. (2006)
  5. Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome. (PubMed id 15565282)1 Runte M....Buiting K. (2005)
  6. ADAR2-mediated editing of RNA substrates in the nucleolus is inhibited by C/D small nucleolar RNAs. (PubMed id 15939761)1 Vitali P....Huttenhofer A. (2005)
  7. Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region. (PubMed id 12045206)1 Cavaille J....Bachellerie J.P. (2002)

External Searches for SNORD115-43 gene

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

Genome Databases showing SNORD115-43 gene

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 100033817 HGNC: 33062 Ensembl:ENSG00000202373 euGenes: HUgn100033817 ECgene: SNORD115-43
H-InvDB: SNORD115-43

Other Databases showing SNORD115-43 gene

(According to HUGE)
About This Section
   --

Specialized Databases showing SNORD115-43 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 SNORD115-43 Pharmacogenomics, SNPs, Pathways

Intellectual Property
for SNORD115-43 gene

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for SNORD115-43 gene:
Search GeneIP for patents involving SNORD115-43

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



Products
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