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SNRNP40 Gene

protein-coding   GIFtS: 53
GCID: GC01M031732

Small Nuclear Ribonucleoprotein 40kDa (U5)

(Previous name: WD repeat domain 57 (U5 snRNP specific))
(Previous symbol: WDR57)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Small Nuclear Ribonucleoprotein 40kDa (U5)1 2     SPF382 5
WDR571 2 3     40K2
WD Repeat Domain 57 (U5 SnRNP Specific)1 2     HPRP8BP2
38 KDa-Splicing Factor2 3     U5 Small Nuclear Ribonucleoprotein 40 KDa Protein2
PRP8BP2 3     U5 SnRNP-Specific 40 KDa Protein (HPrp8-Binding)2
U5-40K2 3     U5-40kD Protein2
Prp8-Binding Protein2 3     SFP383
U5 SnRNP 40 KDa Protein2 3     hPRP8BP3
WD Repeat-Containing Protein 572 3     U5 SnRNP-Specific 40 KDa Protein3
PRPF8BP2 5     

External Ids:    HGNC: 308571   Entrez Gene: 94102   Ensembl: ENSG000000606887   OMIM: 6077975   UniProtKB: Q96DI73   

Export aliases for SNRNP40 gene to outside databases

Previous GC identifers: GC01M031506 GC01M029838


(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 SNRNP40 Gene:
This gene encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) particle. The U5 snRNP is part of
the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs. (provided
by RefSeq, Jul 2008)

GeneCards Summary for SNRNP40 Gene:
SNRNP40 (small nuclear ribonucleoprotein 40kDa (U5)) is a protein-coding gene. Diseases associated with SNRNP40 include intermediate charcot-marie-tooth neuropathy, and cowpox. An important paralog of this gene is NLE1.

UniProtKB/Swiss-Prot: SNR40_HUMAN, Q96DI7
Function: Component of the U5 small nuclear ribonucleoprotein (snRNP) complex. The U5 snRNP is part of the
spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs

Gene Wiki entry for SNRNP40 (WDR57) 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)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the SNRNP40 gene promoter:
         Pax-6   POU3F2   RORalpha2   NF-AT   AREB6   NF-AT4   NF-AT2   HOXA5   NF-AT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSNRNP40 promoter sequence
   Search Chromatin IP Primers for SNRNP40

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SNRNP40


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

Entrez Gene cytogenetic band: 1p35.2   Ensembl cytogenetic band:  1p35.2   HGNC cytogenetic band: 1p35.2

SNRNP40 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNRNP40 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M031732:  view genomic region     (about GC identifiers)

Start:
31,732,415 bp from pter      End:
31,769,662 bp from pter
Size:
37,248 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SNR40_HUMAN, Q96DI7 (See protein sequence)
Recommended Name: U5 small nuclear ribonucleoprotein 40 kDa protein  
Size: 357 amino acids; 39311 Da
Subunit: Identified in the spliceosome C complex. Part of the U5 snRNP complex. Interacts with PRPF8. Component of
the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8,
PRPF31, SNRNP200, TXNL4A, WDR57, SNRNP40, DDX23, CD2BP2, PPIH, NHP2L1, EFTUD2, SART1 and USP39
Sequence caution: Sequence=AAC64084.1; Type=Frameshift; Positions=319; Note=An insertion/deletion of a short
nucleotide stretch in its cDNA resulting in a frameshift;
Secondary accessions: O75938 O95320

Explore the universe of human proteins at neXtProt for SNRNP40: NX_Q96DI7

Explore proteomics data for SNRNP40 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys270, Lys286
  • Modification sites at PhosphoSitePlus

  • See SNRNP40 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004805.2  
    ENSEMBL proteins: 
     ENSP00000263694   ENSP00000362825   ENSP00000406841  
    Reactome Protein details: Q96DI7

    SNRNP40 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WDR: WD repeat domain containing

    5 InterPro protein domains:
     IPR019775 WD40_repeat_CS
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom
     IPR001680 WD40_repeat
     IPR020472 G-protein_beta_WD-40_rep

    Graphical View of Domain Structure for InterPro Entry Q96DI7

    ProtoNet protein and cluster: Q96DI7

    UniProtKB/Swiss-Prot: SNR40_HUMAN, Q96DI7
    Similarity: Contains 7 WD repeats


    SNRNP40 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SNR40_HUMAN, Q96DI7
    Function: Component of the U5 small nuclear ribonucleoprotein (snRNP) complex. The U5 snRNP is part of the
    spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI9774689
    GO:0044822poly(A) RNA binding IDA--
         
    SNRNP40 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SNRNP40
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SNRNP40

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    miRNA
    Products:
        
    miRTarBase miRNAs that target SNRNP40:
    hsa-mir-30c-5p (MIRT047943), hsa-mir-186-5p (MIRT045102)

    Block miRNA regulation of human, mouse, rat SNRNP40 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SNRNP40 (see all 10):
    hsa-miR-300 hsa-miR-487a hsa-miR-381 hsa-miR-575 hsa-miR-138-2* hsa-miR-154* hsa-miR-374c hsa-miR-655
    SwitchGear 3'UTR luciferase reporter plasmidSNRNP40 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SNRNP40
    Predesigned siRNA for gene silencing in human, mouse, rat SNRNP40

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: SNRNP40 (NM_004814)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNRNP40

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNRNP40


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SNR40_HUMAN, Q96DI7: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    extracellular1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005682U5 snRNP TAS9774689
    GO:0005730NOT nucleolus IDA--
    GO:0005732small nucleolar ribonucleoprotein complex NAS9774689

    SNRNP40 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).
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    SuperPaths for SNRNP40 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    mRNA Splicing - Major Pathway0.78
    mRNA processing0.44
    Processing of Capped Intron-Containing Pre-mRNA0.78
    mRNA Splicing - Minor Pathway0.38
    mRNA Splicing0.78
    2Gene Expression
    Gene Expression0.40
    3Spliceosome
    Spliceosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SNRNP40
        mRNA processing

    2 Reactome Pathways for SNRNP40
        mRNA Splicing - Major Pathway
    mRNA Splicing - Minor Pathway


    1 Kegg Pathway  (Kegg details for SNRNP40):
        Spliceosome


    SNRNP40 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SNRNP40
    Interactions:

        Search GeneGlobe Interaction Network for SNRNP40

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SNRNP40 (Q96DI71, 2, 3 ENSP000002636944) via UniProtKB, MINT, STRING, and/or I2D (see all 852)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRPF8Q6P2Q91, 2, 3, ENSP000003043504EBI-538492,EBI-538479 MINT-7945693 MINT-7947479 I2D: score=3 STRING: ENSP00000304350
    ENSG00000234078Q083452, 3, ENSP000004013974MINT-64071 I2D: score=5 STRING: ENSP00000401397
    DDR1Q083452, 3MINT-64071 I2D: score=5 
    ENSG00000137332Q083452, 3MINT-64071 I2D: score=5 
    ENSG00000215522Q083452, 3MINT-64071 I2D: score=5 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000375RNA splicing, via transesterification reactions TAS9774689
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006396RNA processing TAS9774689
    GO:0008380RNA splicing TAS--
    GO:0010467gene expression TAS--

    SNRNP40 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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SNRNP40 (SNR40)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SNRNP40 gene: 
    NM_004814.2  

    Unigene Cluster for SNRNP40:

    Small nuclear ribonucleoprotein 40kDa (U5)
    Hs.33962  [show with all ESTs]
    Unigene Representative Sequence: NM_004814
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263694(uc001bso.3 uc010oge.2) ENST00000486941 ENST00000489853
    ENST00000373720(uc009vtt.3) ENST00000491106 ENST00000474025 ENST00000463988
    ENST00000446633
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SNRNP40 (see all 10):
    hsa-miR-300 hsa-miR-487a hsa-miR-381 hsa-miR-575 hsa-miR-138-2* hsa-miR-154* hsa-miR-374c hsa-miR-655
    SwitchGear 3'UTR luciferase reporter plasmidSNRNP40 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SNRNP40
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    GenScript: all cDNA clones in your preferred vector: SNRNP40 (NM_004814)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNRNP40
    Primer
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    OriGene qPCR primer pairs and template standards for SNRNP40
    OriGene qSTAR qPCR primer pairs in human, mouse for SNRNP40
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SNRNP40
      QuantiTect SYBR Green Assays in human, mouse, rat SNRNP40
      QuantiFast Probe-based Assays in human, mouse, rat SNRNP40

    Additional mRNA sequence: 

    AF090988.1 AK074516.1 AK298823.1 AK313800.1 BC001494.2 EF011621.1 

    10 DOTS entries:

    DT.208442  DT.91670632  DT.406654  DT.40230280  DT.95171446  DT.97807534  DT.100772918  DT.100783714 
    DT.120847331  DT.91855778 

    Selected AceView cDNA sequences (see all 184):

    CR602112 AL157420 CR590081 BQ054462 BM474760 BM906279 BM679119 CR624677 
    CR611220 CR622464 BQ056159 BQ065130 BM562019 CR609455 BI819498 CR605147 
    AI678399 AK074516 BM905254 CB152868 CR610792 BU167893 BQ057287 BQ677340 

    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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    SNRNP40 expression in normal human tissues (normalized intensities)      SNRNP40 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGGCTCCAT
    SNRNP40 Expression
    About this image


    SNRNP40 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    SNRNP40 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SNRNP40 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.33962
        Custom PCR Arrays for SNRNP40
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat SNRNP40
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNRNP40

    (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 eukaryotes.

    Orthologs for SNRNP40 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Snrnp401 , 5 small nuclear ribonucleoprotein 40 (U5)1, 5 89.08(n)1
    98.32(a)1
      4 (63.43 cM)5
    665851  NM_025645.21  NP_079921.21 
     1303601325 
    chicken
    (Gallus gallus)
    Aves SNRNP401 small nuclear ribonucleoprotein 40kDa (U5) 79.62(n)
    92.96(a)
      419556  NM_001006308.1  NP_001006308.1 
    lizard
    (Anolis carolinensis)
    Reptilia SNRNP406
    small nuclear ribonucleoprotein 40kDa (U5)
    86(a)
    1 ↔ 1
    GL343563.1(155788-163122)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC045034.12   -- 80.97(n)    BC045034.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc563122 similar to U5 snRNP-specific 40 kDa protein (hPrp8-binding) less 77.62(n)   393292  BC051783.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG34361 CG3436 59.55(n)
    61.46(a)
      33180  NM_134657.3  NP_608501.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F08G12.21 F08G12.2 58.07(n)
    56.21(a)
      181319  NM_077485.5  NP_509886.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G437701 AT2G43770 60.59(n)
    59.88(a)
      818980  NM_129939.5  NP_181905.1 
    rice
    (Oryza sativa)
    Liliopsida Os.47362 Oryza sativa (japonica cultivar-group) cDNA cloneJ033133P19, full insert sequence less 75.28(n)    AK111971.1 


    ENSEMBL Gene Tree for SNRNP40 (if available)
    TreeFam Gene Tree for SNRNP40 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SNRNP40 gene
    NLE12  WDR832  POC1B2  WDR52  ATG16L12  WDR5B2  PAFAH1B12  SMU12  
    DAW12  WDR382  ATG16L22  POC1A2  
    Selected SIMAP similar genes for SNRNP40 using alignment to 2 protein entries:     SNR40_HUMAN (see all proteins) (see all similar genes):
    DKFZp434D199    WDR57    OK/SW-cl.41    DNAPTP3    UTY    FP6651
    KIAA1651    C14orf178    GNB1    PF20    GNB5    WDR83
    WSB1    DAW1    WDR5B    POC1B    WDR5    CORO1C

    SNRNP40 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SNRNP40
    PGOHUM00000250266


    (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 SNRNP40 (see all 827)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2021589581,2
    C--31731955(+) AGGTTC/TTNNNN 1 -- ds50010--------
    rs120662851,2
    A--31732140(+) tagtaA/Gagacg 1 -- ds50010--------
    rs1401387131,2
    C--31732197(+) GTGATA/C/TCGCCT 1 -- ds50010--------
    rs125654051,2
    H--31732305(+) TCCTTC/TTAGTA 1 -- ds50014Minor allele frequency- T:0.00NS EA 418
    rs1913846921,2
    --31732306(+) CCTTCC/TAGTAG 1 -- ds50010--------
    rs1827858081,2
    --31732319(+) AAAAAA/GTATTG 1 -- ds50010--------
    rs772798901,2
    C,F--31732333(+) CTGATA/C/GATTAT 1 -- ds50011EA 120
    rs1176560121,2
    F--31732337(+) TAATTA/TTTCTT 1 -- ds50011Minor allele frequency- T:0.02EA 120
    rs64257251,2
    C,H--31732390(+) GGGGGA/GAAAAA 1 -- ds500111Minor allele frequency- G:0.05NA WA CSA EA 375
    rs595918251,2
    C--31732603(+) GTTAC-/AAAAAA 1 -- ut312Minor allele frequency- A:0.25NA CSA 4

    HapMap Linkage Disequilibrium report for SNRNP40 (31732415 - 31769662 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SNRNP40:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv161067CNV Loss16902084
    nsv10051CNV Gain18304495
    dgv46e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    OMIM gene information: 607797    OMIM disorders: --

    11 diseases for SNRNP40:    About MalaCards
    intermediate charcot-marie-tooth neuropathy    cowpox    neuropathy    alcohol dependence
    tonsillitis    hiv-1    thyroiditis    cerebritis
    malaria    endotheliitis    prostatitis


    SNRNP40 for disorders           About GeneDecksing


    Export disorders for SNRNP40 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SNRNP40 gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with SNRNP40)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mass spectrometry and EST-database searching allows characterization of the multi-protein spliceosome complex. (PubMed id 9731529)1, 2, 3 Neubauer G.... Mann M. (Nat. Genet. 1998)
    2. The human U5-220kD protein (hPrp8) forms a stable RNA-free complex with several U5-specific proteins, including an RNA unwindase, a homologue of ribosomal elongation factor EF-2, and a novel WD-40 protein. (PubMed id 9774689)1, 2, 3 Achsel T.... Luehrmann R. (Mol. Cell. Biol. 1998)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    4. The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP. (PubMed id 16723661)1, 2 Liu S.... Luehrmann R. (RNA 2006)
    5. 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)
    6. Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. (PubMed id 11991638)1, 2 Jurica M.S.... Moore M.J. (RNA 2002)
    7. The human homologue of the yeast splicing factor Prp6p contains multiple TPR elements and is stably associated with the U5 snRNP via protein-protein interactions. (PubMed id 10788320)1, 3 Makarov E.M.... Luehrmann R. (J. Mol. Biol. 2000)
    8. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    9. NKAIN1-SERINC2 is a functional, replicable and genome-wide significant risk gene region specific for alcohol dependence in subjects of European descent. (PubMed id 23455491)1 Zuo L....Luo X. (Drug Alcohol Depend 2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)

    (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: 9410 HGNC: 30857 AceView: HPRP8BP Ensembl:ENSG00000060688 euGenes: HUgn9410
    ECgene: SNRNP40 Kegg: 9410 H-InvDB: SNRNP40

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for SNRNP40 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for SNRNP40 gene:
    Search GeneIP for patents involving SNRNP40

    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
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