Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



SNRPN Gene

protein-coding   GIFtS: 65
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

TryGeneCards Plus

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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   
ORGUL members:         

Export aliases for SNRPN gene to outside databases

Previous GC identifers: GC15U990046 GC15P017785 GC15P022486 GC15P022617 GC15P022618 GC15P022620 GC15P003206


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

TryGeneCards Plus

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 due to translocation, and prader-willi syndrome. GO annotations related to this gene include 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000015.10  NC_018926.2  NT_010194.18  
Regulatory elements:
   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 Chromatin IP Primers for SNRPN

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

1 alternative location:
Chr15+ 25,200,133-25,223,729     

(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.)
About This Section

TryGeneCards Plus

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
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: 

  • Ubiquitination2 at Lys5, Lys8, Lys32, Lys36, Lys88
  • Modification sites at PhosphoSitePlus

  • See SNRPN Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  

    SNRPN Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for SNRPN
    OriGene Protein Over-expression Lysate for SNRPN
    OriGene MassSpec for SNRPN
    OriGene Custom Protein Services for SNRPN
    GenScript Custom Purified and Recombinant Proteins Services for SNRPN
    Novus Biologicals SNRPN Proteins
    Novus Biologicals SNRPN Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SNRPN

    SNRPN Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SNRPN
    Novus Biologicals SNRPN Antibodies
    Abcam antibodies for SNRPN (Q9Y675, P63162)
    Cloud-Clone Corp. Antibodies for SNRPN
    ThermoFisher Antibodies for SNRPN
    LSBio Antibodies in human, mouse, rat for SNRPN

    SNRPN Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SNRPN
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SNRPN
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SNRPN
    Cloud-Clone Corp. CLIAs for SNRPN


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    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,
    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.)
    About This Section

    TryGeneCards Plus

    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:    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/body  homeostasis/metabolism 
     mortality/aging  normal  reproductive system 

    SNRPN for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SNRPN
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SNRPN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SNRPN
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SNRPN

    miRNA
    Products:
        
    miRTarBase miRNAs that target SNRPN:
    hsa-mir-26b-5p (MIRT029257)

    Block miRNA regulation of human, mouse, rat SNRPN using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate SNRPN:
    hsa-miR-513b hsa-miR-548t hsa-miR-586 hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidSNRPN 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SNRPN
    Predesigned siRNA for gene silencing in human, mouse, rat SNRPN

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SNRPN

    Clone
    Products:
         
    OriGene clones in human, mouse for SNRPN (see all 26)
    OriGene ORF clones in mouse, rat for SNRPN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): SNRPN (NM_022805)
    Sino Biological Human cDNA Clone for SNRPN
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SNRPN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNRPN

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SNRPN
    Browse ESI BIO Cell Lines and PureStem Progenitors for SNRPN 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNRPN


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    RSMN_HUMAN, P63162: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005681spliceosomal complex TAS1533223
    GO:0005685U1 snRNP IEA--
    GO:0005686U2 snRNP IEA--
    GO:0019013viral nucleocapsid ----

    SNRPN for ontologies           About GeneDecksing


    (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).
    About This Section

    TryGeneCards Plus

    SuperPaths for SNRPN About    
    See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    mRNA processing0.44
    2Gastric cancer network 2
    Gastric cancer network 2


    2 BioSystems Pathways for SNRPN
        mRNA processing
    Gastric cancer network 2



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

        GeneGlobe Interaction Network for SNRPN

    Selected 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:    About this table

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

    SNRPN for ontologies           About GeneDecksing



    (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)
    About This Section

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

    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)



    SNRPN for compounds           About GeneDecksing



    (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 )
    About This Section

    TryGeneCards Plus

    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]
    Unigene Representative Sequences: NR_023915, AL832250, AF400494, AF400497, BC043194, AF400495, AF400501
    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
    Products:
         
    Block miRNA regulation of human, mouse, rat SNRPN using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate SNRPN:
    hsa-miR-513b hsa-miR-548t hsa-miR-586 hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidSNRPN 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SNRPN
    Predesigned siRNA for gene silencing in human, mouse, rat SNRPN
    Clone
    Products:
         
    OriGene clones in human, mouse for SNRPN (see all 26)
    OriGene ORF clones in mouse, rat for SNRPN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): SNRPN (NM_022805)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SNRPN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNRPN
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SNRPN
    OriGene qSTAR qPCR primer pairs in human, mouse for SNRPN
    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat SNRPN
      QuantiTect SYBR Green Assays in human, mouse, rat SNRPN
      QuantiFast Probe-based Assays in human, mouse, rat SNRPN

    Additional mRNA sequence: 

    AF400499.1 AF400500.1 AF400501.1 AF400502.1 

    Selected DOTS entries (see all 89):

    DT.100839468  DT.100880524  DT.100880529  DT.95268045  DT.101958428  DT.419276  DT.100880508  DT.121035551 
    DT.95285839  DT.110145  DT.100671533  DT.100880518  DT.319727  DT.101986428  DT.100023902  DT.121035487 
    DT.40112311  DT.121035748  DT.121035823  DT.92452958  DT.100880519  DT.95268046  DT.100758682  DT.75193435 

    6 AceView cDNA sequences:

    R19939 AF400500 AF400499 M78480 AF400501 R44743 

    GeneLoc Exon Structure

    Selected 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™, 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)
    About This Section

    TryGeneCards Plus

    SNRPN expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Hindgut
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 3 entries
             Human embryonic stem cells (family)
     
     Eye (Sensory Organs)
             Retina
    SNRPN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SNRPN Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.555970 Hs.564847 Hs.578619 Hs.585703 Hs.592473 Hs.621316 Hs.632166

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

        Custom PCR Arrays for SNRPN
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SNRPN
    OriGene qSTAR qPCR primer pairs in human, mouse for SNRPN
    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat SNRPN
    QuantiTect SYBR Green Assays in human, mouse, rat SNRPN
    QuantiFast Probe-based Assays in human, mouse, rat SNRPN
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNRPN

    (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

    TryGeneCards Plus

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

    Orthologs for SNRPN gene from Selected species (see all 15)    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_001082961.11  NP_001076430.11 
     599824955 
    chicken
    (Gallus gallus)
    Aves SNRPB1 small nuclear ribonucleoprotein polypeptides B and more 78.58(n)
    91.86(a)
      395298  NM_204599.1  NP_989930.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Small nuclear ribonucleoprotein-associated protein...
    92(a)
    1 → many
    GL343820.1(155984-166215)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia snrpb1 small nuclear ribonucleoprotein polypeptides B and more 79.49(n)
    91.4(a)
      407857  NM_001001198.1  NP_001001198.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.79362 Danio rerio snRNP-associated protein mRNA, complete more 78.69(n)    AF259079.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta SmB1 , 3 mRNA splicing3
    Small ribonucleoprotein particle protein SmB1
    70(a)3
    64.84(n)1
    71.23(a)1
      31E13
    344261  NM_001201851.21  NP_001188780.11 
    worm
    (Caenorhabditis elegans)
    Secernentea snr-21 snr-2 60.19(n)
    58.33(a)
      173204  NM_060947.4  NP_493348.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SMB16
    Core Sm protein Sm B; part of heteroheptameric com...
    29(a)
    1 → many
    V(212587-213177) YER029C


    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

    TryGeneCards Plus
    Paralogs for SNRPN gene
    SNRPB2  
    3 SIMAP similar genes for SNRPN using alignment to 4 protein entries:     RSMN_HUMAN (see all proteins):
    SNRPB    NAA38    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), 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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for SNRPN (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) Selected 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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 182279   
    OMIM disorders: 176270  
    Selected diseases for SNRPN (see all 37):    
    About MalaCards
    prader-willi syndrome due to translocation    prader-willi syndrome    prader-willi syndrome due to imprinting mutation    prader-willi syndrome due to maternal uniparental disomy of chromosome 15
    prader-willi syndrome due to paternal deletion of 15q11q13 type 2    prader-willi syndrome due to paternal deletion of 15q11q13 type 1    malignant mixed mullerian tumor    angelman syndrome
    autism spectrum disorder    atypical autism    mixed connective tissue disease    connective tissue disease
    beckwith-wiedemann syndrome    autistic disorder    duchenne muscular dystrophy    teratoma
    spinal muscular atrophy    neurologic diseases    muscular atrophy    hypotonia

    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

    TryGeneCards Plus

    PubMed articles for SNRPN gene, integrated from 10 sources (see all 178):
    (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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Am. J. Hum. Genet. 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. (J. Biol. Chem. 1992)
    4. Transmission disequilibrium testing of the chromosome 15q11-q13 region in autism. (PubMed id 18361419)1, 4 Kim S.J....Cook E.H. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 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. (BMC Med. Genet. 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. (Genome Res. 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. (Biochem. Biophys. Res. Commun. 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. (Nucleic Acids Res. 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. (Clin. Chem. 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. (J. Biol. Chem. 1989)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 6638 HGNC: 11164 AceView: SNRPN.1 Ensembl:ENSG00000128739 euGenes: HUgn6638
    ECgene: SNRPN H-InvDB: SNRPN

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    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/books/NBK1116/?term=SNRPN[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    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



    (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)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for SNRPN  
     OriGene qPCR primer pairs and template standards for SNRPN   OriGene Protein Over-expression Lysate for SNRPN  
     OriGene MassSpec something-or-other for SNRPN   OriGene clones in human, mouse for SNRPN  
     OriGene qSTAR qPCR primer pairs in human, mouse for SNRPN   OriGene Purified Protein for SNRPN  
     OriGene ORF clones in mouse, rat for SNRPN   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SNRPN   OriGene Custom Protein Services for SNRPN  

     
     
     Block miRNA regulation of human, mouse, rat SNRPN using miScript Target Protectors SeqTarget long-range PCR primers for resequencing SNRPN
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SNRPN Predesigned siRNA for gene silencing in human, mouse, rat SNRPN
     QuantiFast Probe-based Assays in human, mouse, rat SNRPN QuantiTect SYBR Green Assays in human, mouse, rat SNRPN
     Custom PCR Arrays for SNRPN Search Chromatin IP Primers for SNRPN
     Pre-validated RT2 qPCR Primer Assay in human, mouse / rat SNRPN  GeneGlobe Interaction Network for SNRPN
     Regulatory tfbs in SNRPN promoter
     GenScript Custom Purified and Recombinant Proteins Services for SNRPN GenScript cDNA clones with any tag delivered in your preferred vector for SNRPN
     GenScript Custom Assay Services for SNRPN GenScript Custom overexpressing Cell Line Services for SNRPN
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for SNRPN (RSMN)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for SNRPN
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     SNRPN antibodies
     SNRPN proteins
     SNRPN lysates
     Antibodies for SNRPN
     See all of Abcam's Antibodies, Kits and Proteins for SNRPN
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for SNRPN
     Antibodies for SNRPN
     ELISAs for SNRPN
     CLIAs for SNRPN



     Browse ESI BIO Cell Lines and PureStem Progenitors for SNRPN
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNRPN
     SwitchGear 3'UTR luciferase reporter plasmids for SNRPN
     SwitchGear Promoter luciferase reporter plasmids for SNRPN
     ThermoFisher Antibodies for SNRPN
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNRPN
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SNRPN
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SNRPN
     LSBio Antibodies in human, mouse, rat for SNRPN
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    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 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      SNRPN gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4