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SNRPD2 Gene

protein-coding   GIFtS: 61
GCID: GC19M046190

Small Nuclear Ribonucleoprotein D2 Polypeptide 16.5kDa

(Previous name: small nuclear ribonucleoprotein D2 polypeptide (16.5kD))
(Previous symbol: SNRPD1)
  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 D2 Polypeptide 16.5kDa1 2     Small Nuclear Ribonucleoprotein D2 Polypeptide (16.5kD)1
SNRPD11 2 3     SMD22
SnRNP Core Protein D21 2 3     Small Nuclear Ribonucleoprotein Sm D22
Sm-D22 3     

External Ids:    HGNC: 111591   Entrez Gene: 66332   Ensembl: ENSG000001257437   OMIM: 6010615   UniProtKB: P623163   

Export aliases for SNRPD2 gene to outside databases

Previous GC identifers: GC19M046834 GC19M046581 GC19M050866 GC19M050882 GC19M042619


(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 SNRPD2 Gene:
The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is
required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Multiple transcript variants
encoding different isoforms have been found for this gene. (provided by RefSeq, May 2009)

GeneCards Summary for SNRPD2 Gene:
SNRPD2 (small nuclear ribonucleoprotein D2 polypeptide 16.5kDa) is a protein-coding gene. Diseases associated with SNRPD2 include agoraphobia, and spinal muscular atrophy.

UniProtKB/Swiss-Prot: SMD2_HUMAN, P62316
Function: Core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the
building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most
spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG
that assemble in an heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP

Gene Wiki entry for SNRPD2 (Small nuclear ribonucleoprotein D2) 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_000019.10  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SNRPD2 gene promoter:
         AML1a   p300   CUTL1   AP-2gamma   GATA-1   AREB6   PPAR-gamma1   SREBP-1a   CP2   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSNRPD2 promoter sequence
   Search Chromatin IP Primers for SNRPD2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SNRPD2


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

Entrez Gene cytogenetic band: 19q13.2   Ensembl cytogenetic band:  19q13.32   HGNC cytogenetic band: 19q13.2-q13.3

SNRPD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNRPD2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M046190:  view genomic region     (about GC identifiers)

Start:
46,190,712 bp from pter      End:
46,195,827 bp from pter
Size:
5,116 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SMD2_HUMAN, P62316 (See protein sequence)
Recommended Name: Small nuclear ribonucleoprotein Sm D2  
Size: 118 amino acids; 13527 Da
Subunit: U1 snRNP is for instance composed of the 7 core Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF
and SNRPG that assemble in an heptameric protein ring on the Sm site of the small nuclear RNA to form the core
snRNP, and at least three U1 snRNP-specific proteins SNRNP70/U1-70K, SNRPA/U1-A and SNRPC/U1-C. Component of the
U11/U12 snRNPs that are part of the U12-type spliceosome. Part of the SMN-Sm complex that contains SMN1,
GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1,
SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG; catalyzes core snRNPs assembly. Forms a 6S pICln-Sm complex composed of
CLNS1A/pICln, SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG; ring-like structure where CLNS1A/pICln mimics additional Sm
proteins and which is unable to assemble into the core snRNP
Miscellaneous: In the autoimmune disease systemic lupus erythematosus, antinuclear antibodies are developed with
Sm specificity
Selected PDB 3D structures from and Proteopedia for SNRPD2 (see all 12):
1B34 (3D)        1VU2 (3D)        1VU3 (3D)        2Y9A (3D)        2Y9B (3D)        2Y9C (3D)    
Secondary accessions: A8K797 J3KPM5 P43330
Alternative splicing: 2 isoforms:  P62316-1   P62316-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SNRPD2: NX_P62316

Explore proteomics data for SNRPD2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys98
  • Modification sites at PhosphoSitePlus

  • See SNRPD2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_004588.1  NP_808210.2  

    ENSEMBL proteins: 
     ENSP00000342374   ENSP00000465101   ENSP00000465952   ENSP00000466152   ENSP00000375798  
     ENSP00000465216   ENSP00000468247  
    Reactome Protein details: P62316

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    SNRPD2 Assay 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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    4 InterPro protein domains:
     IPR027248 Sm_D2
     IPR001163 Ribonucl_LSM
     IPR010920 LSM_dom
     IPR006649 Ribonucl_LSM_euk/arc

    Graphical View of Domain Structure for InterPro Entry P62316

    ProtoNet protein and cluster: P62316

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

    UniProtKB/Swiss-Prot: SMD2_HUMAN, P62316
    Similarity: Belongs to the snRNP core protein family


    SNRPD2 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: SMD2_HUMAN, P62316
    Function: Core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the
    building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most
    spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG
    that assemble in an heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11714716
    GO:0044822poly(A) RNA binding IDA--
         
    SNRPD2 for ontologies           About GeneDecksing


    Phenotypes:
         7 GenomeRNAi human phenotypes for SNRPD2:
     Decreased influenza A virus in  Decreased viability  Decreased viability of wild-ty  Increased G2M DNA content 
     Increased gamma-H2AX phosphory  Metaphase cells  S arrest 

    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SNRPD2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SNRPD2

    miRNA
    Products:
        
    miRTarBase miRNAs that target SNRPD2:
    hsa-mir-484 (MIRT041764), hsa-mir-296-3p (MIRT038465), hsa-mir-149-5p (MIRT045600), hsa-mir-320a (MIRT044703)

    Block miRNA regulation of human, mouse, rat SNRPD2 using miScript Target Protectors
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    GenScript: all cDNA clones in your preferred vector (see all 2): SNRPD2 (NM_004597)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SNRPD2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNRPD2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNRPD2


    (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
    SMD2_HUMAN, P62316: Cytoplasm, cytosol. Nucleus. Note=SMN-mediated assembly into core snRNPs occurs in the
    cytosol before SMN-mediated transport to the nucleus to be included in spliceosomes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0005681spliceosomal complex TAS1701240
    GO:0005685U1 snRNP IDA--
    GO:0005687U4 snRNP IDA--
    GO:0005689U12-type spliceosomal complex IDA15146077

    SNRPD2 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 SNRPD2 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
    2Regulation of Glucokinase by Glucokinase Regulatory Protein
    Metabolism of non-coding RNA0.54
    snRNP Assembly0.54
    3Gene Expression
    Gene Expression0.40
    4Spliceosome
    Spliceosome
    5EGFR1 Signaling Pathway
    EGFR1 Signaling Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for SNRPD2
        EGFR1 Signaling Pathway
    mRNA processing

    3 Reactome Pathways for SNRPD2
        mRNA Splicing - Major Pathway
    snRNP Assembly
    mRNA Splicing - Minor Pathway


    1 Kegg Pathway  (Kegg details for SNRPD2):
        Spliceosome


    SNRPD2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SNRPD2
    Interactions:

        Search GeneGlobe Interaction Network for SNRPD2

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

    Selected Interacting proteins for SNRPD2 (P623161, 2, 3 ENSP000003423744) via UniProtKB, MINT, STRING, and/or I2D (see all 273)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000224979Q9Y3331, 2, 3, ENSP000004140064EBI-297993,EBI-347416 MINT-62594 MINT-62768 MINT-8332701 MINT-62692 I2D: score=12 STRING: ENSP00000414006
    ENSG00000236826Q9Y3331, 2, 3, ENSP000004146344EBI-297993,EBI-347416 MINT-62594 MINT-62768 MINT-8332701 MINT-62692 I2D: score=12 STRING: ENSP00000414634
    LSM2Q9Y3331, 2, 3, ENSP000003648134EBI-297993,EBI-347416 MINT-62594 MINT-62768 MINT-8332701 MINT-62692 I2D: score=12 STRING: ENSP00000364813
    ENSG00000172850Q9Y3331, 2, 3EBI-297993,EBI-347416 MINT-62594 MINT-62768 MINT-8332701 MINT-62692 I2D: score=12 
    ENSG00000225998Q9Y3331, 2, 3EBI-297993,EBI-347416 MINT-62594 MINT-62768 MINT-8332701 MINT-62692 I2D: score=12 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000245spliceosomal complex assembly TAS7527560
    GO:0000387spliceosomal snRNP assembly TAS--
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0008380RNA splicing TAS--
    GO:0010467gene expression TAS--

    SNRPD2 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 SNRPD2 (SMD2)



    (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 )
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    REFSEQ mRNAs for SNRPD2 gene (2 alternative transcripts): 
    NM_004597.5  NM_177542.2  

    Unigene Cluster for SNRPD2:

    Small nuclear ribonucleoprotein D2 polypeptide 16.5kDa
    Hs.515472  [show with all ESTs]
    Unigene Representative Sequence: BE901089
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000342669(uc002pcw.3) ENST00000585392 ENST00000587367 ENST00000588599
    ENST00000391932(uc002pcv.3) ENST00000588301 ENST00000590212 ENST00000587579

    miRNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNRPD2
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat SNRPD2
      QuantiFast Probe-based Assays in human, mouse, rat SNRPD2

    Additional mRNA sequence: 

    AK291912.1 BC000486.2 BC001930.2 U15008.1 

    20 DOTS entries:

    DT.450533  DT.100039393  DT.91901967  DT.91766629  DT.100890815  DT.91766627  DT.91657907  DT.91766633 
    DT.100039391  DT.97837580  DT.100890804  DT.91766607  DT.95261072  DT.100890800  DT.95261649  DT.100643171 
    DT.100826159  DT.100890790  DT.100890812  DT.87009937 

    Selected AceView cDNA sequences (see all 705):

    AI141094 BG107836 AA323350 BQ219882 AL697723 AI620487 BM013507 F36858 
    BI092930 CF130080 BG395995 BQ439169 BM824179 W16770 AA636015 AI308985 
    AW074043 NM_004597 BF594002 BU167001 BE743868 AJ708388 AI159916 AJ714816 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SNRPD2 (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e
    SP1:                    -     -     -                 -                           
    SP2:                    -           -                 -                           
    SP3:                    -     -                       -                           
    SP4:                    -     -     -                                             
    SP5:                    -     -     -     -           -                           


    ECgene alternative splicing isoforms for SNRPD2

    (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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    SNRPD2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGCTGGAGA
    SNRPD2 Expression
    About this image


    SNRPD2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Ovary (Reproductive System)
             Primary Oocyte Primary Follicle
     
     Gonad
             Primary Oocyte Primary Follicle
     
     Endoderm (Gastrulation Derivatives)
             Endoderm-like cells
    SNRPD2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SNRPD2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.515472
        Custom PCR Arrays for SNRPD2
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat SNRPD2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNRPD2

    (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 SNRPD2 gene from Selected species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Snrpd21 , 5 small nuclear ribonucleoprotein D21, 5 91.24(n)1
    100(a)1
      7 (9.46 cM)5
    1076861  NM_026943.11  NP_081219.11 
     191497225 
    lizard
    (Anolis carolinensis)
    Reptilia SNRPD26
    small nuclear ribonucleoprotein D2 polypeptide 16....
    99(a)
    1 ↔ 1
    GL343568.1(107657-109330)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.42712 Xenopus laevis transcribed sequence with strong similarity more 80.11(n)    BI444879.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.125132 Transcribed sequence with strong similarity to protein more 84.36(n)    57060199 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG12493
    SmD21
    mRNA splicing3
    Small ribonucleoprotein particle protein SmD21
    88(a)3
    79.71(n)1
    89.57(a)1
      83E43
    407811  NM_141388.41  NP_649645.11 
    worm
    (Caenorhabditis elegans)
    Secernentea snr-41 snr-4 71.05(n)
    81.58(a)
      179639  NM_073603.5  NP_506004.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SMD2(YLR275W)4
    SMD21
    Core Sm protein Sm D2; part of heteroheptameric complex more4
    SMD21
    55.35(n)1
    55.66(a)1
      12(694378-694800)4
    8509811, 4  NP_013377.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G628401 AT3G62840 74.44(n)
    87.78(a)
      825459  NM_116149.3  NP_567134.3 
    rice
    (Oryza sativa)
    Liliopsida Os.248122 Transcribed sequence with moderate similarity to protein more 75.38(n)    CA762705.1 


    ENSEMBL Gene Tree for SNRPD2 (if available)
    TreeFam Gene Tree for SNRPD2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SNRPD2 gene
    2 SIMAP similar genes for SNRPD2 using alignment to 3 protein entries:     SMD2_HUMAN (see all proteins):
    LOC645339    LSM3

    SNRPD2 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for SNRPD2
    PGOHUM00000238885 PGOHUM00000244478


    (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 SNRPD2 (see all 80)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs19642721,2
    C,F,A--46190268(+) cgcccA/GgccAG 2 -- ds50014Minor allele frequency- G:0.38NA 8
    rs1503502291,2
    --46190286(+) ATTTTC/TAGTAG 2 -- ds50010--------
    rs1123718241,2
    C,F--46190299(+) ACAGCG/ATTTTA 2 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs602814251,2
    C,F--46190443(+) TCATTG/ATAAGA 2 -- ds50011Minor allele frequency- A:0.50WA 2
    rs72467571,2
    C,F,H--46190531(+) CCACAA/GCTGGG 2 -- ds500119Minor allele frequency- G:0.14NS EA NA WA 2344
    rs1462385261,2
    --46190549(+) TTCCAA/TGCAAA 2 -- ds50010--------
    rs1918913061,2
    --46190555(+) GCAAAC/GTGTTT 2 -- ds50010--------
    rs18027041,2
    C--46190806(-) GGGGCA/C/TGCCTG 4 -- ut310--------
    rs1417232201,2
    F--46190961(+) TTCACG/ATTCTC 4 /N syn11Minor allele frequency- A:0.00NA 4552
    rs778379251,2
    C,F--46191008(+) GGGGAG/CGCACT 2 -- int11Minor allele frequency- C:0.17WA 118

    HapMap Linkage Disequilibrium report for SNRPD2 (46190712 - 46195827 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SNRPD2:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv3954n71CNV Loss21882294
    nsv912159CNV Loss21882294
    dgv3955n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SNRPD2
    DNA2.0 Custom Variant and Variant Library Synthesis for SNRPD2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601061    OMIM disorders: --

    10 diseases for SNRPD2:    
    About MalaCards
    agoraphobia    spinal muscular atrophy    muscular atrophy    intrahepatic cholangiocarcinoma
    cholangiocarcinoma    systemic lupus erythematosus    lupus erythematosus    malaria
    neuronitis    thyroiditis


    SNRPD2 for disorders           About GeneDecksing


    Export disorders for SNRPD2 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 SNRPD2 gene, integrated from 10 sources (see all 85):
    (articles sorted by number of sources associating them with SNRPD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning of the Sm proteins D2 and D3 from human small nuclear ribonucleoproteins: evidence for a direct D1-D2 interaction. (PubMed id 7527560)1, 2, 3 Lehmeier T.... Luehrmann R. (Proc. Natl. Acad. Sci. U.S.A. 1994)
    2. An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs. (PubMed id 18984161)1, 2 Chari A....Fischer U. (Cell 2008)
    3. The human 18S U11/U12 snRNP contains a set of novel proteins not found in the U2-dependent spliceosome. (PubMed id 15146077)1, 2 Will C.L.... Luehrmann R. (RNA 2004)
    4. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (Nature 2004)
    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. Crystal structures of two Sm protein complexes and their implications for the assembly of the spliceosomal snRNPs. (PubMed id 10025403)1, 2 Kambach C.... Nagai K. (Cell 1999)
    8. Evidence for three distinct D proteins, which react differentially with anti-Sm autoantibodies, in the cores of the major snRNPs U1, U2, U4/U6 and U5. (PubMed id 1701240)1, 3 Lehmeier T....LA1hrmann R. (Nucleic Acids Res. 1990)
    9. Quantitative study of the interactome of PKCIP involved in the EGF-induced tumor cell chemotaxis. (PubMed id 23402259)1 Chen R....Zhang N. (J. Proteome Res. 2013)
    10. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)

    (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: 6633 HGNC: 11159 AceView: SNRPD2 Ensembl:ENSG00000125743 euGenes: HUgn6633
    ECgene: SNRPD2 Kegg: 6633 H-InvDB: SNRPD2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SNRPD2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SNRPD2 gene:
    Search GeneIP for patents involving SNRPD2

    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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