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CPSF2 Gene

protein-coding   GIFtS: 64
GCID: GC14P092588

Cleavage And Polyadenylation Specific Factor 2, 100kDa

(Previous names: cleavage and polyadenylation specific factor 2, 100kD subunit)
  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
Cleavage And Polyadenylation Specific Factor 2, 100kDa1 2     Cleavage And Polyadenylation Specific Factor 2, 100kD Subunit1
Cleavage And Polyadenylation Specificity Factor 100 KDa Subunit2 3     Cleavage And Polyadenylation Specificity Factor Subunit 22
CPSF1002 3     CPSF 100kDa Subunit2
CPSF 100 KDa Subunit2 3     KIAA13673

External Ids:    HGNC: 23251   Entrez Gene: 539812   Ensembl: ENSG000001659347   OMIM: 6060285   UniProtKB: Q9P2I03   

Export aliases for CPSF2 gene to outside databases

Previous GC identifers: GC14P090094 GC14P086404 GC14P090578 GC14P091658 GC14P072769


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CPSF2 Gene:
CPSF2 (cleavage and polyadenylation specific factor 2, 100kDa) is a protein-coding gene. Diseases associated with CPSF2 include rift valley fever, and tonsillitis. GO annotations related to this gene include hydrolase activity and RNA binding.

UniProtKB/Swiss-Prot: CPSF2_HUMAN, Q9P2I0
Function: Component of the cleavage and polyadenylation specificity factor (CPSF) complex that play a key role in
pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and
other factors to bring about cleavage and poly(A) addition. Involved in the histone 3' end pre-mRNA processing

Gene Wiki entry for CPSF2 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_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CPSF2 gene promoter:
         TBP   TFIID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCPSF2 promoter sequence
   Search Chromatin IP Primers for CPSF2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CPSF2


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

Entrez Gene cytogenetic band: 14q31.1   Ensembl cytogenetic band:  14q32.12   HGNC cytogenetic band: 14q31.1

CPSF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CPSF2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P092588:  view genomic region     (about GC identifiers)

Start:
92,588,281 bp from pter      End:
92,630,755 bp from pter
Size:
42,475 bases      Orientation:
plus 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: CPSF2_HUMAN, Q9P2I0 (See protein sequence)
Recommended Name: Cleavage and polyadenylation specificity factor subunit 2  
Size: 782 amino acids; 88487 Da
Subunit: Component of the cleavage and polyadenylation specificity factor (CPSF) complex, composed of CPSF1,
CPSF2, CPSF3, CPSF4 and FIP1L1. Interacts with CPSF3, CSTF2 and SYMPK
Secondary accessions: B3KME1 Q6NSJ1 Q9H3W7

Explore the universe of human proteins at neXtProt for CPSF2: NX_Q9P2I0

Explore proteomics data for CPSF2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys130, Lys324, Lys375, Lys725
  • Modification sites at PhosphoSitePlus

  • See CPSF2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_059133.1  
    ENSEMBL proteins: 
     ENSP00000298875   ENSP00000451418   ENSP00000452503   ENSP00000451390  
    Reactome Protein details: Q9P2I0

    CPSF2 Human Recombinant Protein Products:

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    CPSF2 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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    5 InterPro protein domains:
     IPR011108 RMMBL
     IPR027075 CPSF2
     IPR001279 Beta-lactamas-like
     IPR025069 Cpsf2_C
     IPR022712 Beta_Casp

    Graphical View of Domain Structure for InterPro Entry Q9P2I0

    ProtoNet protein and cluster: Q9P2I0

    1 Blocks protein domain: IPB011108 RNA-metabolising metallo-beta-lactamase

    UniProtKB/Swiss-Prot: CPSF2_HUMAN, Q9P2I0
    Similarity: Belongs to the metallo-beta-lactamase superfamily. RNA-metabolizing metallo-beta-lactamase-like
    family. CPSF2/YSH1 subfamily


    CPSF2 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: CPSF2_HUMAN, Q9P2I0
    Function: Component of the cleavage and polyadenylation specificity factor (CPSF) complex that play a key role in
    pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and
    other factors to bring about cleavage and poly(A) addition. Involved in the histone 3' end pre-mRNA processing

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI18688255
    GO:0016787hydrolase activity IEA--
         
    CPSF2 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for CPSF2:
     Increased S DNA content  Increased cell size  S arrest  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CPSF2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CPSF2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CPSF2

    miRNA
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    miRTarBase miRNAs that target CPSF2:
    hsa-mir-193a-3p (MIRT044892)

    Block miRNA regulation of human, mouse, rat CPSF2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CPSF2 (see all 33):
    hsa-miR-579 hsa-miR-4328 hsa-miR-1258 hsa-miR-138-2* hsa-miR-29b-1* hsa-miR-570 hsa-miR-10b* hsa-miR-374a*
    SwitchGear 3'UTR luciferase reporter plasmidCPSF2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CPSF2
    Predesigned siRNA for gene silencing in human, mouse, rat CPSF2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: CPSF2 (NM_017437)
    Sino Biological Human cDNA Clone for CPSF2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CPSF2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CPSF2

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPSF2


    (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
    CPSF2_HUMAN, Q9P2I0: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0005847mRNA cleavage and polyadenylation specificity factor complex IDA18305108

    CPSF2 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 CPSF2 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    mRNA Splicing - Major Pathway0.78
    mRNA Splicing0.78
    Processing of Capped Intron-Containing Pre-mRNA0.78
    mRNA processing0.44
    2RNA Polymerase II Transcription Termination
    RNA Polymerase II Transcription Termination0.80
    Processing of Capped Intronless Pre-mRNA0.52
    Cleavage of Growing Transcript in the Termination Region0.80
    Processing of Intronless Pre-mRNAs0.00
    mRNA 3-end processing0.80
    3Regulation of Glucokinase by Glucokinase Regulatory Protein
    Transport of Mature mRNAs Derived from Intronless Transcripts0.92
    Transport of Mature mRNA Derived from an Intronless Transcript0.91
    4Transport of Mature Transcript to Cytoplasm
    Transport of Mature Transcript to Cytoplasm0.93
    5Formation of RNA Pol II elongation complex
    RNA Polymerase II Transcription0.60

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for CPSF2
        mRNA processing


    5 Reactome Pathways for CPSF2
        mRNA Splicing - Major Pathway
    Transport of Mature mRNA Derived from an Intronless Transcript
    mRNA 3'-end processing
    Processing of Intronless Pre-mRNAs
    Cleavage of Growing Transcript in the Termination Region


    1 Kegg Pathway  (Kegg details for CPSF2):
        mRNA surveillance pathway


    CPSF2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CPSF2
    Interactions:

        Search GeneGlobe Interaction Network for CPSF2

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

    Selected Interacting proteins for CPSF2 (Q9P2I01, 2, 3 ENSP000002988754) via UniProtKB, MINT, STRING, and/or I2D (see all 875)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSTF2P332401, 2, 3, ENSP000003620634EBI-1043224,EBI-711360 MINT-6802591 MINT-6802527 MINT-6802639 MINT-6802510 MINT-6802560 MINT-6802545 MINT-8089129 I2D: score=2 STRING: ENSP00000362063
    CPSF3Q9UKF62, ENSP000002381124MINT-6802591 MINT-8198073 MINT-6802527 MINT-7947479 MINT-7945693 MINT-6802510 MINT-6802560 MINT-6802545 MINT-8089129 MINT-6802610 STRING: ENSP00000238112
    SYMPKQ927971, 2, 3, ENSP000002459344EBI-1043224,EBI-1051992 MINT-8198073 MINT-7947479 MINT-6802626 MINT-7945693 MINT-6802510 MINT-6802610 I2D: score=1 STRING: ENSP00000245934
    CLP1Q929892, 3, ENSP000003047044MINT-7945693 I2D: score=1 STRING: ENSP00000304704
    CDC73Q6P1J92, 3, ENSP000003564054MINT-7947479 MINT-7945693 I2D: score=1 STRING: ENSP00000356405
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006366transcription from RNA polymerase II promoter TAS--
    GO:0006369termination of RNA polymerase II transcription TAS--
    GO:0006378mRNA polyadenylation IEA--
    GO:0006379mRNA cleavage IEA--

    CPSF2 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 CPSF2



    (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 CPSF2 gene: 
    NM_017437.2  

    Unigene Cluster for CPSF2:

    Cleavage and polyadenylation specific factor 2, 100kDa
    Hs.657632  [show with all ESTs]
    Unigene Representative Sequence: NM_017437
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000298875(uc001yah.2) ENST00000553427 ENST00000554290 ENST00000556622
    ENST00000555244
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CPSF2 (see all 33):
    hsa-miR-579 hsa-miR-4328 hsa-miR-1258 hsa-miR-138-2* hsa-miR-29b-1* hsa-miR-570 hsa-miR-10b* hsa-miR-374a*
    SwitchGear 3'UTR luciferase reporter plasmidCPSF2 3' UTR sequence
    Inhib. RNA
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CPSF2
      QuantiTect SYBR Green Assays in human, mouse, rat CPSF2
      QuantiFast Probe-based Assays in human, mouse, rat CPSF2

    Additional mRNA sequence: 

    AB037788.1 AK001627.2 AK001912.1 AK023583.1 AL442079.1 BC060854.1 BC070095.1 

    6 DOTS entries:

    DT.455215  DT.120776671  DT.100718716  DT.120776666  DT.91977588  DT.100888885 

    Selected AceView cDNA sequences (see all 168):

    BQ220961 AL442079 CK823580 AI915193 BU071341 BQ961605 AW591309 N90958 
    BC060854 AA171479 CB158583 BM831795 CD514291 BM827073 AA176203 CK823581 
    BM699052 CB114555 AL040352 AA176202 NM_017437 BQ129215 BE535330 AL046590 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CPSF2    About this scheme

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


    ECgene alternative splicing isoforms for CPSF2

    (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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    CPSF2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGCCTCCCC
    CPSF2 Expression
    About this image


    CPSF2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) 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
    CPSF2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CPSF2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.657632
        Custom PCR Arrays for CPSF2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPSF2

    (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 CPSF2 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cpsf21 , 5 cleavage and polyadenylation specific factor 21, 5 88.7(n)1
    97.95(a)1
      12 (51.34 cM)5
    517861  NM_016856.31  NP_058552.11 
     1019759745 
    chicken
    (Gallus gallus)
    Aves CPSF21 cleavage and polyadenylation specific factor 2, 10 more 84.21(n)
    96.16(a)
      423416  NM_001031208.2  NP_001026379.1 
    lizard
    (Anolis carolinensis)
    Reptilia CPSF26
    cleavage and polyadenylation specific factor 2, 10...
    95(a)
    1 ↔ 1
    1(11624081-11639973)
    African clawed frog
    (Xenopus laevis)
    Amphibia cpsf2-A2 cleavage and polyadenylation specific factor 2, 10 more 79.94(n)    AF139986.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.125262 Transcribed sequence with moderate similarity to protein more 75.64(n)    BQ481309.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta BcDNA:LD141683
    Cpsf1001
    mRNA cleavage mRNA binding, 3' UTR3
    Cleavage and polyadenylation specificity factor 10 more1
    53(a)3
    56.94(n)1
    58.34(a)1
      98F53
    434261  NM_143401.21  NP_651658.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F09G2.43
    cpsf-21
    cpsf-21 41(a)3
    53.63(n)1
    45.34(a)1
      V(7181807-7185393)3
    1791031  NM_072421.41  NP_504822.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CFT2(YLR115W)4 Subunit of the mRNA cleavage and polyadenlylation factor more   --   12(377985-380564) 850806  NP_013216.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CPSF1001 CPSF100 50.51(n)
    41.48(a)
      832453  NM_122293.3  NP_197776.1 
    rice
    (Oryza sativa)
    Liliopsida Os09g05694001 Os09g0569400 50.35(n)
    41.75(a)
      4347905  NM_001070513.1  NP_001063978.1 


    ENSEMBL Gene Tree for CPSF2 (if available)
    TreeFam Gene Tree for CPSF2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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 CPSF2 (see all 825)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs580364461,2
    C,F--92590192(+) ACTGAA/CGTTGG 1 -- int16Minor allele frequency- C:0.28NA WA CSA EA 364
    rs1823768111,2
    --92590210(+) TATACA/GAAGAT 1 -- int10--------
    rs1492914241,2
    C--92590266(+) CTTTAA/TGTGCC 1 -- int10--------
    rs1462857101,2
    --92590312(+) AACAAA/CAAGGC 1 -- int10--------
    rs1394088641,2
    --92590392(+) AAGGTA/CATTTC 1 -- int10--------
    rs1881822831,2
    --92590426(+) GCTTTC/GAGAAG 1 -- int10--------
    rs71519321,2
    C,F,A,H--92590564(+) ATTTTA/TTTCAG 1 -- int113Minor allele frequency- T:0.39NS EA NA WA CSA 788
    rs1173435691,2
    C,F--92590622(+) GGATAT/CTTGTT 1 -- int11Minor allele frequency- C:0.03EA 120
    rs1123772491,2
    F--92590737(+) TGGAGG/ACAGGA 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs71523351,2
    C,F,A,H--92590839(+) TAGTCT/CGGGAG 1 -- int110Minor allele frequency- C:0.26NA WA CSA EA 508

    HapMap Linkage Disequilibrium report for CPSF2 (92588281 - 92630755 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for CPSF2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1397CNV Insertion18451855
    esv999869CNV Insertion20482838
    esv1267299CNV Insertion17803354
    dgv1975n71CNV Loss21882294
    nsv902190CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CPSF2
    DNA2.0 Custom Variant and Variant Library Synthesis for CPSF2

    (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: 606028    OMIM disorders: --

    11 diseases for CPSF2:    
    About MalaCards
    rift valley fever    tonsillitis    obesity    retinitis
    hiv-1    thyroiditis    malaria    cerebritis
    endotheliitis    prostatitis    neuronitis

    1 disease from the University of Copenhagen DISEASES database for CPSF2:
    Rift Valley fever

    CPSF2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CPSF2
    Human Genome Epidemiology (HuGE) Navigator: CPSF2 (1 document)

    Export disorders for CPSF2 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 CPSF2 gene, integrated from 10 sources (see all 64):
    (articles sorted by number of sources associating them with CPSF2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. (PubMed id 21546767)1, 4 Murea M....Freedman B.I. (Am. J. Nephrol. 2011)
    2. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PubMed id 20546612)1, 4 Zhao J....Grant S.F. (BMC Med. Genet. 2010)
    3. 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)
    4. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (Nat. Genet. 2008)
    5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Human Fip1 is a subunit of CPSF that binds to U-rich RNA elements and stimulates poly(A) polymerase. (PubMed id 14749727)1, 2 Kaufmann I.... Keller W. (EMBO J. 2004)
    8. 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)
    9. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    10. Assignment of the 100-kDa subunit of cleavage and polyadenylation specificity factor (CPSF2) to human chromosome 14q31.3 by radiation hybrid mapping. (PubMed id 11124543)1, 3 Samiotaki M....Tsiapalis C.M. (Cytogenet. Cell Genet. 2000)

    (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: 53981 HGNC: 2325 AceView: CPSF2 Ensembl:ENSG00000165934 euGenes: HUgn53981
    ECgene: CPSF2 Kegg: 53981 H-InvDB: CPSF2

    (According to HUGE)
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    HUGE: KIAA1367

    (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 CPSF2 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 CPSF2 gene:
    Search GeneIP for patents involving CPSF2

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



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