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SYMPK Gene

protein-coding   GIFtS: 56
GCID: GC19M046318

Symplekin

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(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
symplekin1 2
SPK2 3 5
SYM2

External Ids:    HGNC: 229351   Entrez Gene: 81892   Ensembl: ENSG000001257557   OMIM: 6023885   UniProtKB: Q927973   

Export aliases for SYMPK gene to outside databases

Previous GC identifers: GC19M050994 GC19M051010 GC19M042747


(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 SYMPK Gene:
This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene
expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery.
It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also
participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also
localizes to the cytoplasmic plaques of tight junctions in some cell types. (provided by RefSeq, Jul 2008)

GeneCards Summary for SYMPK Gene:
SYMPK (symplekin) is a protein-coding gene.

UniProtKB/Swiss-Prot: SYMPK_HUMAN, Q92797
Function: Scaffold protein that functions as a component of a multimolecular complex involved in histone mRNA
3'-end processing. Specific component of the tight junction (TJ) plaque, but might not be an exclusively
junctional component. May have a house-keeping rule. Is involved in pre-mRNA polyadenylation. Enhances SSU72
phosphatase activity

Gene Wiki entry for SYMPK 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 at NCBI GenBank:
NC_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SYMPK gene promoter:
         Bach1   USF1   Olf-1   Ik-3   c-Ets-1   AREB6   HEN1   USF-1   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSYMPK promoter sequence
   Search Chromatin IP Primers for SYMPK

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


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

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

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M046318:  view genomic region     (about GC identifiers)

Start:
46,318,668 bp from pter      End:
46,366,548 bp from pter
Size:
47,881 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SYMPK_HUMAN, Q92797 (See protein sequence)
Recommended Name: Symplekin  
Size: 1274 amino acids; 141148 Da
Subunit: Found in a heat-sensitive complex at least composed of several cleavage and polyadenylation specific and
cleavage stimulation factors. Interacts with CPSF2, CPSF3 and CSTF2. Interacts with HSF1 in heat-stressed cells.
Interacts with SSU72
Miscellaneous: Could be used as a differentiation marker in the differential diagnosis of tumors
Sequence caution: Sequence=AAC50667.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH30214.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
Sequence=BAD92261.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAA71861.1;
Type=Frameshift; Positions=67;
Selected PDB 3D structures from and Proteopedia for SYMPK (see all 7):
3O2Q (3D)        3O2S (3D)        3O2T (3D)        3ODR (3D)        3ODS (3D)        4H3H (3D)    
Secondary accessions: O00521 O00689 O00733 Q59GT5 Q8N2U5
Alternative splicing: 2 isoforms:  Q92797-1   Q92797-2   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SYMPK: NX_Q92797

Explore proteomics data for SYMPK at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys520, Lys551, Lys909, Lys912, Lys919, Lys1040
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_004810.2  
    ENSEMBL proteins: 
     ENSP00000245934   ENSP00000473136   ENSP00000470957   ENSP00000469296   ENSP00000471694  
     ENSP00000471770   ENSP00000470977  

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    Novus Biologicals SYMPK Protein
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    Cloud-Clone Corp. Proteins for SYMPK

     
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    antibodies-online proteins for SYMPK (2 products) 

     
    antibodies-online peptides for SYMPK

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    antibodies-online antibodies for SYMPK (34 products) 

    SYMPK Assay Products:

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    antibodies-online kits for SYMPK (4 products) 


    (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:
     IPR011989 ARM-like
     IPR022075 Symplekin_C
     IPR021850 Symplekin
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q92797

    ProtoNet protein and cluster: Q92797

    1 Blocks protein domain: IPB000357 HEAT repeat

    UniProtKB/Swiss-Prot: SYMPK_HUMAN, Q92797
    Domain: The HEAT repeats have been determined based on 3D-structure analysis of the D.melanogaster ortholog and
    are not detected by sequence-based prediction programs
    Similarity: Belongs to the Symplekin family
    Similarity: Contains 5 HEAT repeats


    Find genes that share domains with SYMPK           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SYMPK_HUMAN, Q92797
    Function: Scaffold protein that functions as a component of a multimolecular complex involved in histone mRNA
    3'-end processing. Specific component of the tight junction (TJ) plaque, but might not be an exclusively
    junctional component. May have a house-keeping rule. Is involved in pre-mRNA polyadenylation. Enhances SSU72
    phosphatase activity

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding IPI18688255
         
    Find genes that share ontologies with SYMPK           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SYMPK:
     Decreased viability with pacli 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Sympk):
     mortality/aging 

    Find genes that share phenotypes with SYMPK           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SYMPK

    miRNA
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    miRTarBase miRNAs that target SYMPK:
    hsa-mir-744-5p (MIRT037562), hsa-mir-10a-5p (MIRT047571), hsa-mir-940 (MIRT036616), hsa-mir-92b-3p (MIRT040725), hsa-mir-760 (MIRT036753), hsa-mir-1 (MIRT023496), hsa-mir-193b-3p (MIRT041533)

    Block miRNA regulation of human, mouse, rat SYMPK using miScript Target Protectors
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    (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
    SYMPK_HUMAN, Q92797: Cytoplasm, cytoskeleton. Cell junction, tight junction. Cell membrane; Peripheral membrane
    protein; Cytoplasmic side. Cell junction. Nucleus, nucleoplasm. Note=Cytoplasmic face of adhesion plaques (major)
    and nucleoplasm (minor) (in cells with TJ). Nucleoplasm (in cells without TJ). Nuclear bodies of heat-stressed
    cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    plasma membrane5
    cytosol3

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm IDA8769423
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005856cytoskeleton IEA--

    Find genes that share ontologies with SYMPK           About GenesLikeMe


    (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 SYMPK About    
    See pathways by source

    SuperPathContained pathways About
    1Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Epithelial Tight Junctions0.36
    2Translational Control
    Translational Control
    3Tight junction
    Tight junction
    4mRNA surveillance pathway
    mRNA surveillance pathway
    5Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation


    Find genes that share SuperPaths with SYMPK           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SYMPK
        Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions

    2 Cell Signaling Technology (CST) Pathways for SYMPK
        Chromatin Regulation / Acetylation
    Translational Control


    2 Kegg Pathways  (Kegg details for SYMPK):
        mRNA surveillance pathway
    Tight junction

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SYMPK: 
              Tight Junctions in human mouse rat
              Huntington's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SYMPK

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

    Selected Interacting proteins for SYMPK (Q927971, 2, 3 ENSP000002459344) via UniProtKB, MINT, STRING, and/or I2D (see all 817)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CPSF2Q9P2I01, 2, 3, ENSP000002988754EBI-1051992,EBI-1043224 MINT-6802626 MINT-7945693 MINT-8198073 MINT-6802510 MINT-7947479 MINT-6802610 I2D: score=1 STRING: ENSP00000298875
    CSTF2P332402, 3, ENSP000003620634MINT-6802510 I2D: score=3 STRING: ENSP00000362063
    CPSF3Q9UKF62, ENSP000002381124MINT-7945693 MINT-8198073 MINT-6802510 MINT-7947479 MINT-6802610 STRING: ENSP00000238112
    PCBP2Q153662, ENSP000003524384MINT-7945693 MINT-8198073 MINT-7947479 STRING: ENSP00000352438
    CDC73Q6P1J92, ENSP000003564054MINT-7945693 MINT-7947479 STRING: ENSP00000356405
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006378mRNA polyadenylation IMP--
    GO:0006398histone mRNA 3'-end processing ----
    GO:0007155cell adhesion IEA--
    GO:0035307positive regulation of protein dephosphorylation IDA--

    Find genes that share ontologies with SYMPK           About GenesLikeMe



    (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 SYMPK

    1 Novoseek inferred chemical compound relationship for SYMPK gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenylate 24.1 1 16230528 (1)



    Find genes that share compounds with SYMPK           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SYMPK gene: 
    NM_004819.2  

    Unigene Cluster for SYMPK:

    Symplekin
    Hs.515475  [show with all ESTs]
    Unigene Representative Sequence: AB210010
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000598155 ENST00000593504 ENST00000245934(uc002pdn.3 uc002pdo.1 uc002pdp.1 uc002pdq.2)
    ENST00000600237 ENST00000598364 ENST00000596824 ENST00000598329 ENST00000599460
    ENST00000599814 ENST00000598896 ENST00000593899 ENST00000601582 ENST00000596518
    ENST00000602061 ENST00000598059 ENST00000594293 ENST00000593959 ENST00000601600

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    Additional mRNA sequence: 

    AB210010.1 AF049526.1 AK130602.1 AK300252.1 AL831859.1 BC006536.2 BC006567.2 BC030214.1 
    U49240.1 U88726.1 Y10931.1 

    23 DOTS entries:

    DT.452017  DT.100754064  DT.100037326  DT.40191674  DT.95278861  DT.100037325  DT.121469918  DT.95072423 
    DT.91750131  DT.121469878  DT.91948970  DT.97860378  DT.100783806  DT.121469905  DT.91762946  DT.92053277 
    DT.95127510  DT.100783808  DT.121469864  DT.91762941  DT.97860377  DT.91974827  DT.92007355 

    Selected AceView cDNA sequences (see all 296):

    BC006567 AL040838 CD243784 BU196958 CK725005 U49240 BG739999 BU178580 
    AL044661 BU619150 CR625930 AL044066 AL698907 BG258290 BE796578 BQ215833 
    BU541637 BE734035 BM789910 BU619604 AK130602 F12181 CB217016 BE535210 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SYMPK (see all 12)    About this scheme

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

    ExUns: 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26a · 26b · 26c ^ 27 ^ 28a · 28b
    SP1:        -     -                                                                           
    SP2:                                                                                          
    SP3:              -                             -           -                                 
    SP4:                                                                                          
    SP5:        -     -                             -                                             


    ECgene alternative splicing isoforms for SYMPK

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

    SYMPK Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SYMPK Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.515475

    UniProtKB/Swiss-Prot: SYMPK_HUMAN, Q92797
    Tissue specificity: In testis, expressed in polar epithelia and Sertoli cells but not in vascular endothelia. The
    protein is detected in stomach, duodenum, pancreas, liver, fetal brain, carcinomas, lens-forming cells,
    fibroblasts, lymphocytes, lymphoma cells, erythroleukemia cells but not in endothelium of vessels, epidermis,
    intercalated disks, Purkinje fiber cells of the heart and lymph node

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SYMPK: 
              Tight Junctions in human mouse rat
              Huntington's Disease in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYMPK

    (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 animals.

    Orthologs for SYMPK gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sympk1 , 5 symplekin1, 5 87.99(n)1
    94.02(a)1
      7 (9.46 cM)5
    681881  NM_026605.21  NP_080881.21 
     190243775 
    lizard
    (Anolis carolinensis)
    Reptilia SYMPK6
    symplekin
    78(a)
    1 ↔ 1
    GL343962.1(19085-58611)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC535032 similar to symplekin; Huntingtin interacting protein more 73.37(n)    BC047265.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.46732 Transcribed sequence with moderate similarity to protein more 81.32(n)    CD759709.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sym1 Symplekin 47.39(n)
    38.09(a)
      40709  NM_141323.2  NP_649580.1 
    worm
    (Caenorhabditis elegans)
    Secernentea symk-11 symk-1 41.53(n)
    31.52(a)
      182490  NM_072809.5  NP_505210.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SYMPK gene
    1 SIMAP similar gene for SYMPK using alignment to 8 protein entries:     SYMPK_HUMAN (see all proteins):
    SYMPK variant protein

    Find genes that share paralogs with SYMPK           About GenesLikeMe



    (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 SYMPK (see all 1098)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1505374711,2
    C--46320608(+) GGTCAC/TATGTA 1 -- int10--------
    rs579272081,2
    C--46320658(+) CGGGGA/TTTGGT 1 -- int10--------
    rs1872989221,2
    --46320662(+) GTTTGG/TTTTTT 1 -- int10--------
    rs1492227861,2
    C--46320670(+) TTTTT-/GTTCTC
            
    TTTTT
    1 -- int10--------
    rs129731761,2
    C--46320677(+) TCTCTC/TTTTTT 1 -- int1 trp31Minor allele frequency- T:0.50NA 2
    rs583208081,2
    C--46320703(+) TTTTT-/TTTTT/TT
    TTTTTTTTTT
    GAGAG
    2 -- int1 cds11NA 2
    rs777566561,2
    C--46320718(+) TCTTAC/GTCTGC 1 -- int14Minor allele frequency- G:0.08NA CSA EA 243
    rs104014391,2
    C,F,H--46320780(+) AAACTC/TCTGGG 1 -- int113Minor allele frequency- T:0.29EA NS NA WA CSA 1047
    rs1442973531,2
    --46320821(+) AAGAGC/TTGGCA 1 -- int10--------
    rs782684891,2
    F--46320902(+) AAAAAC/TTGGGC 1 -- int10--------

    HapMap Linkage Disequilibrium report for SYMPK (46318668 - 46366548 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SYMPK:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv912166CNV Loss21882294
    dgv3954n71CNV Loss21882294
    nsv912172CNV Loss21882294
    nsv510770CNV Loss20534489
    dgv3956n71CNV Loss21882294
    esv25340CNV Gain19812545

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

    (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: 602388    OMIM disorders: --


    Find genes that share disorders with SYMPK           About GenesLikeMe

    Genetic Association Database (GAD): SYMPK
    Human Genome Epidemiology (HuGE) Navigator: SYMPK (1 document)

    Export disorders for SYMPK 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 SYMPK gene, integrated from 10 sources (see all 54):
    (articles sorted by number of sources associating them with SYMPK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Chromosomal localization to 19q13.3, partial genomic structure and 5' cDNA sequence of the human symplekin gene. (PubMed id 9330635)1, 2, 3 Ueki K.... Louis D.N. (Somat. Cell Mol. Genet. 1997)
    2. Symplekin and multiple other polyadenylation factors participate in 3'-end maturation of histone mRNAs. (PubMed id 16230528)1, 2, 9 Kolev N.G. and Steitz J.A. (Genes Dev. 2005)
    3. Complex protein interactions within the human polyadenylation machinery identify a novel component. (PubMed id 10669729)1, 2, 9 Takagaki Y. and Manley J.L. (Mol. Cell. Biol. 2000)
    4. Symplekin, a novel type of tight junction plaque protein. (PubMed id 8769423)1, 2, 9 Keon B.H.... Franke W.W. (J. Cell Biol. 1996)
    5. HSF1 modulation of Hsp70 mRNA polyadenylation via interaction with symplekin. (PubMed id 14707147)1, 2, 9 Xing H.... Sarge K.D. (J. Biol. Chem. 2004)
    6. Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease. (PubMed id 20601676)1, 4 Fransen K....Weersma R.K. (Hum. Mol. Genet. 2010)
    7. Crystal structure of the human symplekin-Ssu72-CTD phosphopeptide complex. (PubMed id 20861839)1, 2 Xiang K....Tong L. (Nature 2010)
    8. Conserved motifs in both CPSF73 and CPSF100 are required to assemble the active endonuclease for histone mRNA 3'-end maturation. (PubMed id 18688255)1, 2 Kolev N.G.... Steitz J.A. (EMBO Rep. 2008)
    9. 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)
    10. Six transcripts map within 200 kilobases of the myotonic dystrophy expanded repeat. (PubMed id 9585442)1, 2 Alwazzan M.... Brook J.D. (Mamm. Genome 1998)

    (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: 8189 HGNC: 22935 AceView: SYMPK Ensembl:ENSG00000125755 euGenes: HUgn8189
    ECgene: SYMPK Kegg: 8189 H-InvDB: SYMPK

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for SYMPK 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 SYMPK gene:
    Search GeneIP for patents involving SYMPK

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



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