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

SNRPN Gene

protein-coding   GIFtS: 63
GCID: GC15P025068

Small Nuclear Ribonucleoprotein Polypeptide N

(Previous name: Prader-Willi syndrome chromosome region)
(Previous symbol: PWCR)
  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)
About This Section

Aliases
Small Nuclear Ribonucleoprotein Polypeptide N1 2     SM-D2
Sm Protein N1 2 3     SNRNP-N2
PWCR1 2     SNURF-SNRPN2
Tissue-Specific Splicing Protein1 2     sm-N2
Sm Protein D2 3     Small Nuclear Ribonucleoprotein-Associated Protein N2
HCERN32 3     Sm-D3
SMN2 3     Sm-N3
Prader-Willi Syndrome Chromosome Region1     SmN3
Small Nuclear Ribonucleoprotein N1     snRNP-N3
RT-LI2     Tissue-Specific-Splicing Protein3

External Ids:    HGNC: 111641   Entrez Gene: 66382   Ensembl: ENSG000001287397   OMIM: 1822795   UniProtKB: P631623   

Export aliases for SNRPN gene to outside databases

Previous GC identifers: GC15U990046 GC15P017785 GC15P022486 GC15P022617 GC15P022618 GC15P022620 GC15P003206


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SNRPN Gene:
The protein encoded by this gene is one polypeptide of a small nuclear ribonucleoprotein complex and belongs to
the snRNP SMB/SMN family. The protein plays a role in pre-mRNA processing, possibly tissue-specific alternative
splicing events. Although individual snRNPs are believed to recognize specific nucleic acid sequences through
RNA-RNA base pairing, the specific role of this family member is unknown. The protein arises from a bicistronic
transcript that also encodes a protein identified as the SNRPN upstream reading frame (SNURF). Multiple
transcription initiation sites have been identified and extensive alternative splicing occurs in the 5'
untranslated region. Additional splice variants have been described but sequences for the complete transcripts
have not been determined. The 5' UTR of this gene has been identified as an imprinting center. Alternative
splicing or deletion caused by a translocation event in this paternally-expressed region is responsible for
Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. (provided by RefSeq, Jul 2008)

GeneCards Summary for SNRPN Gene: 
SNRPN (small nuclear ribonucleoprotein polypeptide N) is a protein-coding gene. Diseases associated with SNRPN include prader-willi syndrome, and angelman syndrome, and among its related super-pathways are Processing of Capped Intron-Containing Pre-mRNA. GO annotations related to this gene include protein binding and RNA binding. An important paralog of this gene is SNRPB.

UniProtKB/Swiss-Prot: RSMN_HUMAN, P63162
Function: May be involved in tissue-specific alternative RNA processing events

Gene Wiki entry for SNRPN (Small nuclear ribonucleoprotein polypeptide N) 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
RefSeq DNA sequence:
NC_000015.9  NT_026446.14  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SNRPN gene promoter:
         Nkx3-1   AP-1   MyoD   Nkx3-1 v1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SNRPN promoter sequence
   Search SABiosciences Chromatin IP Primers for SNRPN

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


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

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

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P025068:  view genomic region     (about GC identifiers)

Start:
25,068,794 bp from pter      End:
25,664,609 bp from pter
Size:
595,816 bases      Orientation:
plus strand

(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/Swiss-Prot: RSMN_HUMAN, P63162 (See protein sequence)
Recommended Name: Small nuclear ribonucleoprotein-associated protein N  
Size: 240 amino acids; 24614 Da
Subunit: Interacts with TDRD3
Subcellular location: Nucleus
Miscellaneous: Encoded on a bicistronic transcript that code for two proteins, SNRPN and SNURF
Miscellaneous: Patients with the autoimmune disease systemic lupus erythematosus (SLE) have autoantibodies
directed against some of the individual snRNP polypeptides. The most common autoantigen is called Sm. N bears Sm
epitopes
Secondary accessions: P14648 P17135 Q0D2Q5

Explore the universe of human proteins at neXtProt for SNRPN: NX_P63162

Explore proteomics data for SNRPN at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P63162

  • SNRPN Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SNRPN Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_003088.1  NP_073716.1  NP_073717.1  NP_073718.1  NP_073719.1  

    ENSEMBL proteins: 
     ENSP00000382972   ENSP00000382969   ENSP00000375105   ENSP00000462211   ENSP00000306223  
     ENSP00000452342   ENSP00000463510   ENSP00000463458   ENSP00000382970   ENSP00000408767  

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    Cloud-Clone Corp. Proteins for SNRPN 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005681spliceosomal complex TAS1533223
    GO:0005685U1 snRNP IEA--
    GO:0005686U2 snRNP IEA--
    GO:0030529ribonucleoprotein complex ----

    SNRPN for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR001163 Ribonucl_LSM
     IPR017131 snRNP-assoc_SmB/SmN
     IPR010920 LSM_dom
     IPR006649 Ribonucl_LSM_euk/arc

    Graphical View of Domain Structure for InterPro Entry P63162

    ProtoNet protein and cluster: P63162

    1 Blocks protein domain: IPB010920 Like-Sm ribonucleoprotein-related

    UniProtKB/Swiss-Prot: RSMN_HUMAN, P63162
    Similarity: Belongs to the snRNP SmB/SmN family


    SNRPN 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,
    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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RSMN_HUMAN, P63162
    Function: May be involved in tissue-specific alternative RNA processing events

         Genatlas biochemistry entry for SNRPN:
    small ribonucleoprotein,associated polypeptide SmN,paternally expressed,containing an upstream exon (SNURF)
    deleted in patients with Angelman syndrome with an IC15 deletion,this suggesting a role in maternal
    imprinting,may be dependent or facilitated by the presence of a nuclear matrix attachment region (MAR),also
    containing a promoter region playing a critical role in the initiation of imprint switching during
    spermatogenesis,hypermethylated in benign ovarian teratoma

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI14715275
         
    SNRPN for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SNRPN:
     Synthetic lethal with Ras 

         8 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Snrpn):
     adipose tissue  behavior/neurological  cellular  growth/size  homeostasis/metabolism 
     mortality/aging  normal  reproductive system 

    SNRPN for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SNRPN: Snrpntm2Cbr Snrpntm2Alb Snrpntm1Alb Snrpntm5Alb Snrpntm3Alb Snrpntm1Cbr

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SNRPN 
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    SwitchGear 3'UTR luciferase reporter plasmidSNRPN 3' UTR sequence
    Inhib. RNA
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    (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 SNRPN About                                                                                                See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    mRNA processing0.46
    2Gastric cancer network 2
    Gastric cancer network 2


    2 BioSystems Pathways for SNRPN
        mRNA processing
    Gastric cancer network 2


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SNRPN

    5/52 Interacting proteins for SNRPN (P631621, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CD2BP2O954002, 3MINT-62854 MINT-62855 MINT-62856 MINT-62857 MINT-62858 I2D: score=1 
    GIGYF2Q6Y7W62, 3MINT-65891 I2D: score=2 
    KHDRBS1Q076662, 3MINT-7890830 I2D: score=1 
    POP7O758171, 3EBI-712493,EBI-366574 I2D: score=1 
    CSNK2BP678703I2D: score=5 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008380RNA splicing TAS1533223
    GO:0009725response to hormone stimulus IEA--

    SNRPN for ontologies           About GeneDecksing



    (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

    SNRPN for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SNRPN (RSMN)

    3 Novoseek inferred chemical compound relationships for SNRPN gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hpaii 41.5 1 17020468 (1)
    5-aza-2'deoxycytidine 25 3 11230184 (2)
    glyceraldehyde 3-phosphate 11.1 4 8829631 (1), 8004100 (1)

    Search CenterWatch for drugs/clinical trials and news about SNRPN / RSMN

    (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

    REFSEQ mRNAs for SNRPN gene (5 alternative transcripts): 
    NM_003097.3  NM_022805.2  NM_022806.2  NM_022807.2  NM_022808.2  

    Unigene Clusters for SNRPN:

    Small nuclear ribonucleoprotein polypeptide N
    Hs.555970  [show with all ESTs], Hs.564847  [show with all ESTs], Hs.578619 , Hs.585703 , Hs.592473  [show with all ESTs], Hs.621316 , Hs.632166  [show with all ESTs], Hs.728856  [show with all ESTs], Hs.731866  [show with all ESTs], Hs.733072  [show with all ESTs], Hs.737651
    Unigene Representative Sequences: NR_023915, AL832250, AF400494, AF400497, BC043194, AF400495, AF400501, XR_110299, BX648788, U81001, AF400492
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000400100(uc001ywp.1) ENST00000400097(uc001yws.1 uc001ywt.1)
    ENST00000553597 ENST00000390687(uc001ywu.3 uc001ywy.1) ENST00000584968
    ENST00000346403 ENST00000554227 ENST00000579070 ENST00000577565 ENST00000400098(uc001ywq.1 uc001ywr.1)
    ENST00000444203(uc021sgb.1)
    miRNA
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    hsa-miR-513b hsa-miR-548t hsa-miR-586 hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidSNRPN 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF400490.1 AF400491.1 AF400492.1 AF400493.1 AY362864.1 

    24/114 DOTS entries (see all 114):

    DT.100839468  DT.100880524  DT.100880529  DT.95268045  DT.101958428  DT.419276  DT.95285839  DT.100671533 
    DT.100880508  DT.121035551  DT.100023902  DT.91727065  DT.110145  DT.454545  DT.121035826  DT.91702822 
    DT.91702827  DT.97806692  DT.100880518  DT.319727  DT.414401  DT.101986428  DT.91666078  DT.121035487 

    6 AceView cDNA sequences:

    R19939 AF400500 AF400499 M78480 AF400501 R44743 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for SNRPN (see all 12)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b ^ 13a · 13b · 13c ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^
    SP1:                                                                                                                    -                                       
    SP2:                                      -                       -     -     -     -                                                                           
    SP3:                                      -     -                 -     -     -     -           -     -                                                         
    SP4:                                      -     -                 -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -   
    SP5:                                                                                                                                                            

    ExUns: 19a · 19b ^ 20 ^ 21a · 21b · 21c · 21d · 21e ^ 22a · 22b ^ 23 ^ 24 ^ 25
    SP1:                                                                              
    SP2:                                                                              
    SP3:                                                                              
    SP4:  -                                                                           
    SP5:                                                  -                           


    ECgene alternative splicing isoforms for SNRPN

    (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

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


    SNRPN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
             ganglion/cranial/facial VII   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 4 entries
             autonomic/sympathetic/ganglion   
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Hindgut
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             ES03(HES-3)
     
     Eye (Sensory Organs)
             Retina

    See SNRPN Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SNRPN

    SOURCE GeneReport for Unigene clusters: Hs.555970 Hs.564847 Hs.578619 Hs.585703 Hs.592473 Hs.621316 Hs.632166 Hs.728856 Hs.731866 Hs.733072 Hs.737651

    UniProtKB/Swiss-Prot: RSMN_HUMAN, P63162
    Tissue specificity: Expressed in brain and lymphoblasts

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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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SNRPN gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Snrpn1 , 5 small nuclear ribonucleoprotein N1, 5 91.53(n)1
    100(a)1
      7 (34.04 cM)5
    206461  NM_013670.31  NP_038698.11 
     599824955 
    chicken
    (Gallus gallus)
    Aves SNRPB6
    Small nuclear ribonucleoprotein-associated protein...
    46(a)
    1 → many
    20(11094571-11097691)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Small nuclear ribonucleoprotein-associated protein...
    92(a)
    1 → many
    GL343820.1(155984-166215)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.79362 Danio rerio snRNP-associated protein mRNA, complete more 78.69(n)    AF259079.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta SmB3 mRNA splicing 70(a)   31E1   --
    worm
    (Caenorhabditis elegans)
    Secernentea snr-26
    Probable small nuclear ribonucleoprotein-associate...
    56(a)
    1 → many
    I(13339395-13340227)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SMB16
    Core Sm protein Sm B; part of heteroheptameric com...
    27(a)
    1 → many
    V(212587-213177)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SNRPN gene
    SNRPB2  
    4 SIMAP similar genes for SNRPN using alignment to 4 protein entries:     RSMN_HUMAN (see all proteins):
    SNRPB    NAA38    LSMD1    LSM8

    SNRPN for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SNRPN
    PGOHUM00000263022


    (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

    10/3298 SNPs in SNRPN are shown (see all 3298)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs287221441,2
    C,F--25066851(+) TTAATA/GTCATC 3 -- us2k111Minor allele frequency- G:0.19NA WA CSA EA 374
    rs1139579381,2
    F--25066916(+) TGTTGC/TGTAGG 3 -- us2k12Minor allele frequency- T:0.50CSA 4
    rs1856556631,2
    --25066917(+) GTTGCA/GTAGGA 3 -- us2k10--------
    rs1145756601,2
    F--25066930(+) CTCACA/CAGAAA 3 -- us2k11Minor allele frequency- C:0.03WA 118
    rs1385997741,2
    --25066943(+) AAATAG/TCACCA 3 -- us2k10--------
    rs1906170191,2
    --25066986(+) GGAGAA/CAATCA 3 -- us2k10--------
    rs1818752591,2
    --25066997(+) TAAGAA/CAGATG 3 -- us2k10--------
    rs284303741,2
    C,F--25067052(+) AATATC/ATTTAT 3 -- us2k16Minor allele frequency- A:0.43NA WA CSA EA 364
    rs1131547691,2
    C--25067122(+) ATCTCG/AGTCCA 3 -- us2k13Minor allele frequency- A:0.13NA EA 242
    rs1416036191,2
    --25067139(+) CTTCCA/GTCTCC 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for SNRPN (25068794 - 25318794 bp, first 250kb of SNRPN)

    Structural Variations
         Database of Genomic Variants (DGV) 10/36 variations for SNRPN (see all 36):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2749455CNV Deletion23290073
    esv2749453CNV Deletion23290073
    esv2663597CNV Deletion23128226
    esv2674507CNV Deletion23128226
    dgv444e199CNV Deletion23128226
    esv2653478CNV Deletion19546169
    esv2678343CNV Deletion23128226
    esv1000872CNV Deletion20482838
    esv2666560CNV Deletion23128226
    dgv335e201CNV Deletion23290073


    Human Gene Mutation Database (HGMD): SNRPN
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SNRPN
    DNA2.0 Custom Variant and Variant Library Synthesis for SNRPN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 182279   
    OMIM disorders: 176270  
    20/29 diseases for SNRPN (see all 29):    About MalaCards
    prader-willi syndrome    angelman syndrome    autistic disorder    malignant mixed mullerian tumor
    atypical autism    autism spectrum disorder    mixed connective tissue disease    connective tissue disease
    beckwith-wiedemann syndrome    duchenne muscular dystrophy    teratoma    spinal muscular atrophy
    muscular atrophy    neurologic diseases    microcephaly    hypotonia
    intellectual disability    leiomyoma    lupus erythematosus    muscular dystrophy

    4 diseases from the University of Copenhagen DISEASES database for SNRPN:
    Prader-Willi syndrome     Angelman syndrome     Beckwith-Wiedemann syndrome     Autistic disorder

    SNRPN for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for SNRPN gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    prader-willi syndrome 95.8 43 9915945 (3), 8111367 (2), 8845846 (2), 10626556 (2) (see all 30)
    angelman syndrome 94.6 16 15014980 (2), 9931342 (2), 8571960 (1), 12568729 (1) (see all 12)
    lupus erythematosus systemic 53.8 4 8386666 (2), 7772706 (1)
    autoimmune response 19.3 1 10444365 (1)
    mental retardation 17.6 1 18929657 (1)

    GeneTests: SNRPN
    GeneReviews: SNRPN
    Genetic Association Database (GAD): SNRPN
    Human Genome Epidemiology (HuGE) Navigator: SNRPN (3 documents)

    Export disorders for SNRPN 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)
    About This Section

    PubMed articles for SNRPN gene, integrated from 9 sources (see all 177):
    (articles sorted by number of sources associating them with SNRPN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. An imprinted, mammalian bicistronic transcript encodes two independent proteins. (PubMed id 10318933)1, 2, 9 Gray T.A.... Nicholls R.D. (1999)
    2. Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene. (PubMed id 8571960)1, 2, 9 Glenn C.C.... Nicholls R.D. (1996)
    3. The gene encoding the small nuclear ribonucleoprotein-associated protein N is expressed at high levels in neurons. (PubMed id 1533223)1, 3, 9 Schmauss C....Lerner M.R. (1992)
    4. Transmission disequilibrium testing of the chromosome 15q11-q13 region in autism. (PubMed id 18361419)1, 4 Kim S.J....Cook E.H. (2008)
    5. Framingham Heart Study genome-wide association: results for pulmonary function measures. (PubMed id 17903307)1, 4 Wilk J.B....O'Connor G.T. (2007)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Isolation and structural characterization of the rat gene encoding the brain specific snRNP-associated polypeptide 'N'. (PubMed id 8363612)1, 2 Esposito F.... Russo T. (1993)
    8. A comparison of snRNP-associated Sm-autoantigens: human N, rat N and human B/B'. (PubMed id 2522186)1, 2 Schmauss C.... Lerner M.R. (1989)
    9. Expression of the major human ribonucleoprotein (RNP) autoantigens in Escherichia coli and their use in an EIA for screening sera from patients with autoimmune diseases. (PubMed id 2528429)1, 2 Renz M.... Seelig H.P. (1989)
    10. Primary structure of a human small nuclear ribonucleoprotein polypeptide as deduced by cDNA analysis. (PubMed id 2522449)1, 2 Rokeach L.A.... Hoch S.O. (1989)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6638 HGNC: 11164 AceView: SNRPN.1 Ensembl:ENSG00000128739 euGenes: HUgn6638
    ECgene: SNRPN H-InvDB: SNRPN

    (According to HUGE)
    About This Section
      --

    (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 SNRPN Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SNRPN Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SNRPN

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

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



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    About This Section

     
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