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CD59 Gene

protein-coding   GIFtS: 71
GCID: GC11M033721

CD59 Molecule, Complement Regulatory Protein

(Previous names: CD59 antigen p18-20 (antigen identified by monoclonal antibodies...)
(Previous symbols: MIC11, MIN1, MSK21, MIN2, MIN3)
  See CD59-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
CD59 Molecule, Complement Regulatory Protein1 2     1F52
MIC111 2 3 5     EJ162
MIN11 2 3     EJ302
MIN21 2 3     EL322
MIN31 2 3     G3442
MSK211 2 3     MEM432
CD59 Antigen P18-20 (Antigen Identified By Monoclonal Antibodies 16.3A5,
EJ16, EJ30, EL32 And G344)1 2
     CD59 Glycoprotein2
Membrane Attack Complex Inhibition Factor2 3     Human Leukocyte Antigen MIC112
Membrane Inhibitor Of Reactive Lysis2 3     Ly-6-Like Protein2
1F5 Antigen2 3     Lymphocytic Antigen CD59/MEM432
20 KDa Homologous Restriction Factor2 3     Membrane Attack Complex (MAC) Inhibition Factor2
HRF-202 3     p18-202
HRF202 3     protectin2
MAC-IP2 3     Surface Anitgen Recognized By Monoclonal Antibody 16.3A52
MACIF2 3     T Cell-Activating Protein2
MIRL2 3     Protectin3
MEM43 Antigen2 3     CD59 Antigen3
CD59 Antigen, Complement Regulatory Protein1     MAC-Inhibitory Protein3
16.3A52     

External Ids:    HGNC: 16891   Entrez Gene: 9662   Ensembl: ENSG000000850637   OMIM: 1072715   UniProtKB: P139873   

Export aliases for CD59 gene to outside databases

Previous GC identifers: GC11M035262 GC11M034408 GC11M033758 GC11M033694 GC11M033688 GC11M033681 GC11M033421


(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 CD59 Gene:
This gene encodes a cell surface glycoprotein that regulates complement-mediated cell lysis, and it is involved in
lymphocyte signal transduction. This protein is a potent inhibitor of the complement membrane attack complex,
whereby it binds complement C8 and/or C9 during the assembly of this complex, thereby inhibiting the
incorporation of multiple copies of C9 into the complex, which is necessary for osmolytic pore formation. This
protein also plays a role in signal transduction pathways in the activation of T cells. Mutations in this gene
cause CD59 deficiency, a disease resulting in hemolytic anemia and thrombosis, and which causes cerebral
infarction. Multiple alternatively spliced transcript variants, which encode the same protein, have been
identified for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for CD59 Gene:
CD59 (CD59 molecule, complement regulatory protein) is a protein-coding gene. Diseases associated with CD59 include hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy, and hemolytic anemia. GO annotations related to this gene include complement binding.

UniProtKB/Swiss-Prot: CD59_HUMAN, P13987
Function: Potent inhibitor of the complement membrane attack complex (MAC) action. Acts by binding to the C8
and/or C9 complements of the assembling MAC, thereby preventing incorporation of the multiple copies of C9
required for complete formation of the osmolytic pore. This inhibitor appears to be species-specific. Involved in
signal transduction for T-cell activation complexed to a protein tyrosine kinase
Function: The soluble form from urine retains its specific complement binding activity, but exhibits greatly
reduced ability to inhibit MAC assembly on cell membranes

Gene Wiki entry for CD59 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_000011.9  NC_018922.2  NT_009237.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the CD59 gene promoter:
         GR   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCD59 promoter sequence
   Search Chromatin IP Primers for CD59

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CD59


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

Entrez Gene cytogenetic band: 11p13   Ensembl cytogenetic band:  11p13   HGNC cytogenetic band: 11p13

CD59 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CD59 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M033721:  view genomic region     (about GC identifiers)

Start:
33,719,807 bp from pter      End:
33,758,025 bp from pter
Size:
38,219 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: CD59_HUMAN, P13987 (See protein sequence)
Recommended Name: CD59 glycoprotein precursor  
Size: 128 amino acids; 14177 Da
Subunit: Interacts with T-cell surface antigen CD2
Selected PDB 3D structures from and Proteopedia for CD59 (see all 10):
1CDQ (3D)        1CDR (3D)        1CDS (3D)        1ERG (3D)        1ERH (3D)        2J8B (3D)    

Explore the universe of human proteins at neXtProt for CD59: NX_P13987

Explore proteomics data for CD59 at MOPED

Post-translational modifications: 

  • N- and O-glycosylated. The N-glycosylation mainly consists of a family of biantennary complex-type structures with
    and without lactosamine extensions and outer arm fucose residues. Also significant amounts of triantennary
    complexes (22%). Variable sialylation also present in the Asn-43 oligosaccharide. The predominant O-glycans are
    mono-sialylated forms of the disaccharide, Gal-beta-1,3GalNAc, and their sites of attachment are probably on
    Thr-76 and Thr-77. The GPI-anchor of soluble urinary CD59 has no inositol-associated phospholipid, but is
    composed of seven different GPI-anchor variants of one or more monosaccharide units. Major variants contain
    sialic acid, mannose and glucosamine. Sialic acid linked to an N-acetylhexosamine-galactose arm is present in two
    variants1
  • Glycated. Glycation is found in diabetic subjects, but only at minimal levels in nondiabetic subjects. Glycated
    CD59 lacks MAC-inhibitory function and confers to vascular complications of diabetes1
  • Glycosylation2 at Asn43, Lys66, His69, Thr76, Thr77
  • Modification sites at PhosphoSitePlus

  • See CD59 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (8 alternative transcripts): 
    NP_000602.1  NP_001120695.1  NP_001120697.1  NP_001120698.1  NP_001120699.1  NP_976074.1  NP_976075.1  NP_976076.1  

    ENSEMBL proteins: 
     ENSP00000432362   ENSP00000437122   ENSP00000435179   ENSP00000436497   ENSP00000379191  
     ENSP00000436737   ENSP00000340210   ENSP00000404822   ENSP00000403511   ENSP00000402425  
     ENSP00000410182   ENSP00000432942   ENSP00000434617  
    Reactome Protein details: P13987

    CD59 Human Recombinant Protein Products:

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    Browse recombinant and purified proteins available from Enzo Life Sciences
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    Novus Biologicals CD59 Proteins
    Novus Biologicals CD59 Lysates
    Sino Biological Recombinant Protein for CD59
    Sino Biological Cell Lysate for CD59
    ProSpec Recombinant Protein for CD59
    Cloud-Clone Corp. Proteins for CD59

     
    Search eBioscience for Proteins for CD59 

    CD59 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CD59
    R&D Systems Antibodies for CD59
    OriGene Antibodies for CD59
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    Novus Biologicals CD59 Antibodies
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    LSBio Antibodies in human, mouse, rat for CD59

    CD59 Assay Products:

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    GenScript Custom Assay Services for CD59
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CD59
    Cloud-Clone Corp. CLIAs for CD59
    Search eBioscience for ELISAs for CD59 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules
    complement: Complement system

    4 InterPro protein domains:
     IPR027101 CD59_glyco
     IPR018363 CD59_antigen_CS
     IPR016054 LY6_UPA_recep-like
     IPR001526 LY6_UPAR

    Graphical View of Domain Structure for InterPro Entry P13987

    ProtoNet protein and cluster: P13987

    1 Blocks protein domain: IPB001526 CD59 antigen

    UniProtKB/Swiss-Prot: CD59_HUMAN, P13987
    Similarity: Contains 1 UPAR/Ly6 domain


    Find genes that share domains with CD59           About GenesLikeMe


    (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, 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: CD59_HUMAN, P13987
    Function: Potent inhibitor of the complement membrane attack complex (MAC) action. Acts by binding to the C8
    and/or C9 complements of the assembling MAC, thereby preventing incorporation of the multiple copies of C9
    required for complete formation of the osmolytic pore. This inhibitor appears to be species-specific. Involved in
    signal transduction for T-cell activation complexed to a protein tyrosine kinase
    Function: The soluble form from urine retains its specific complement binding activity, but exhibits greatly
    reduced ability to inhibit MAC assembly on cell membranes

         Genatlas biochemistry entry for CD59:
    cell differentiation antigen CD59 (gp18),18-20kDa,glycosyl-phosphatidylinositol (GPI) linked membrane
    glycoprotein,identified by monoclonal antibodies YTH53.1,MEM-43 (protectin)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001848complement binding IBA--
    GO:0005515protein binding IPI--
         
    Find genes that share ontologies with CD59           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for CD59:
     Decreased POU5F1-GFP protein e  Decreased viability of wild-ty 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cd59b):
     cellular  endocrine/exocrine gland  hematopoietic system  homeostasis/metabolism  mortality/aging 
     renal/urinary system  reproductive system 

    Find genes that share phenotypes with CD59           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for CD59: Cd59a/Cd59bCd59a/tm1Jha Cd59btm1Jha

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CD59
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CD59

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CD59
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CD59

    miRNA
    Products:
        
    miRTarBase miRNAs that target CD59:
    hsa-mir-92a-3p (MIRT049073), hsa-mir-124-3p (MIRT002624), hsa-mir-10a-5p (MIRT047711)

    Block miRNA regulation of human, mouse, rat CD59 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CD59 (see all 22):
    hsa-miR-3678-3p hsa-miR-320a hsa-miR-26a-2* hsa-miR-888* hsa-miR-4314 hsa-miR-149 hsa-miR-3116 hsa-miR-3662
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CD59
    Predesigned siRNA for gene silencing in human, mouse, rat CD59

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CD59

    Clone
    Products:
         
    OriGene clones in human, mouse for CD59 (see all 44)
    OriGene ORF clones in mouse, rat for CD59
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 8): CD59 (NM_001127223)
    Sino Biological Human cDNA Clone for CD59
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CD59
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD59

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for CD59 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD59


    (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
    CD59_HUMAN, P13987: Cell membrane; Lipid-anchor, GPI-anchor. Secreted. Note=Soluble form found in a number of
    tissues
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    cytoskeleton1
    endosome1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IBA--
    GO:0005615extracellular space IEA--
    GO:0005886plasma membrane TAS--
    GO:0009986cell surface IDA15907827
    GO:0016020membrane TAS1381503

    Find genes that share ontologies with CD59           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 CD59 About    
    See pathways by source

    SuperPathContained pathways About
    1Complement Pathway
    Immune response Lectin Induced complement pathway0.56
    Regulation of Complement cascade0.48
    Immune response Classic complement pathway0.56
    Complement Activation Pathways0.30
    Immune response Alternative complement pathway0.56
    2Complement and coagulation cascades
    Complement and coagulation cascades0.71
    3Creation of C4 and C2 activators
    Complement cascade0.68
    4Hematopoietic cell lineage
    Hematopoietic cell lineage
    5Arf6 trafficking events
    Arf6 trafficking events


    Find genes that share SuperPaths with CD59           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 GeneGo (Thomson Reuters) Pathways for CD59
        Immune response Alternative complement pathway
    Immune response Classical complement pathway
    Immune response Lectin induced complement pathway

    1 BioSystems Pathway for CD59
        Arf6 trafficking events

    1 Sino Biological Pathway for CD59
        Complement Activation Pathways

    1 Reactome Pathway for CD59
        Regulation of Complement cascade


    2 Kegg Pathways  (Kegg details for CD59):
        Complement and coagulation cascades
    Hematopoietic cell lineage

        Pathway & Disease-focused RT2 Profiler PCR Array including CD59: 
              Angiogenic Growth Factors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CD59

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for CD59 (P139871, 2, 3 ENSP000003402104) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCR3O149313, ENSP000003421564I2D: score=3 STRING: ENSP00000342156
    ENSG00000225211O149313, ENSP000003901314I2D: score=3 STRING: ENSP00000390131
    ENSG00000206430O149313I2D: score=3 
    ENSG00000223833O149313I2D: score=3 
    ENSG00000236315O149313I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001775cell activation IBA--
    GO:0001971negative regulation of activation of membrane attack complex IEA--
    GO:0007166cell surface receptor signaling pathway TAS7691713
    GO:0007596blood coagulation TAS1381503
    GO:0030449regulation of complement activation TAS--

    Find genes that share ontologies with CD59           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 CD59

    Selected Novoseek inferred chemical compound relationships for CD59 gene (see all 34)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hmcp 69 2 16324389 (1), 15693845 (1)
    docosahexaenoic acid 64 23 18489792 (2), 18922179 (1), 19221636 (1), 19736623 (1) (see all 14)
    eicosapentaenoic acid 58.7 17 18489792 (2), 18922179 (1), 19221636 (1), 19736623 (1) (see all 9)
    anaphylatoxin 53.2 1 9121154 (1)
    galalpha(1,3)gal 50.1 3 10910270 (2)
    rituximab 43.9 21 11520782 (4), 11394505 (3), 11719378 (2), 16289746 (2) (see all 9)
    glycolipid 31.2 4 7527603 (1), 1372260 (1), 8804039 (1), 1280224 (1)
    phosphatidylinositol 29.7 34 1379443 (4), 12950982 (2), 2242615 (2), 7527236 (1) (see all 12)
    lipid 29.2 45 7519171 (3), 1698710 (2), 16927933 (2), 16303609 (2) (see all 28)
    ganglioside 20.1 6 9003426 (1), 8569195 (1), 10064071 (1), 7688394 (1) (see all 5)



    Find genes that share compounds with CD59           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 CD59 gene (8 alternative transcripts): 
    NM_000611.5  NM_001127223.1  NM_001127225.1  NM_001127226.1  NM_001127227.1  NM_203329.2  NM_203330.2  NM_203331.2  

    Unigene Cluster for CD59:

    CD59 molecule, complement regulatory protein
    Hs.278573  [show with all ESTs]
    Unigene Representative Sequence: NM_001127223
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000534312 ENST00000527926 ENST00000525763 ENST00000533181 ENST00000395850(uc009yjx.3 uc009yjy.3 uc009yjz.3 uc001mut.4 uc009yka.3 uc001muu.4 uc001muv.4)
    ENST00000533403 ENST00000351554 ENST00000528987 ENST00000415002(uc001mus.4)
    ENST00000445143 ENST00000426650 ENST00000437761 ENST00000527577 ENST00000528700

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CD59 (see all 22):
    hsa-miR-3678-3p hsa-miR-320a hsa-miR-26a-2* hsa-miR-888* hsa-miR-4314 hsa-miR-149 hsa-miR-3116 hsa-miR-3662
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 8): CD59 (NM_001127223)
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat CD59
      QuantiFast Probe-based Assays in human, mouse, rat CD59

    Additional mRNA sequence: 

    AK309894.1 AK311778.1 AL049957.1 AL080087.1 BC001506.2 BC033226.1 M34671.1 M95708.1 
    X16447.1 X17198.1 X84805.1 

    Selected DOTS entries (see all 51):

    DT.100883726  DT.95110568  DT.95179543  DT.100783392  DT.95226254  DT.100883738  DT.100883723  DT.95179586 
    DT.100883703  DT.100883737  DT.455383  DT.91887599  DT.120725237  DT.40272730  DT.95179583  DT.95179510 
    DT.92470437  DT.100783395  DT.100883742  DT.95179588  DT.100888833  DT.100883739  DT.120725042  DT.92470434 

    Selected AceView cDNA sequences (see all 1489):

    AL572836 CR610753 CR614737 AW172963 BQ230563 NM_203331 CR612938 BG235980 
    AA320303 AA828169 CR616543 CR596803 AA629233 BP343477 BQ220942 CD105226 
    CR625449 AL553790 CR601338 AA503223 AL552396 AA513330 AU138725 CR624551 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CD59 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f · 8g · 8h
    SP1:                    -           -     -                       -                                                   
    SP2:                    -           -     -                       -                                                   
    SP3:                                      -                       -                                                   
    SP4:                                                              -                                                   
    SP5:                    -     -     -     -                       -                                                   


    ECgene alternative splicing isoforms for CD59

    (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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    CD59 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGACTGGCAG
    CD59 Expression
    About this image


    CD59 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 23) fully expand
     
     Mesenchymal Stem Cells
             Bone marrow-derived mesenchymal stem cells
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Bone Marrow
             Bone marrow-derived mesenchymal stem cells
     
     Adipose (Muscoskeletal System)    fully expand to see all 5 entries
             Stromal Cells Subcutaneous White Adipose
             Adipose-derived stem cells (Adipoplus)
             Adipocyte-like cells
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Uterus (Reproductive System)
             Endometrial regenerative cells
    CD59 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CD59 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.278573
        Pathway & Disease-focused RT2 Profiler PCR Array including CD59: 
              Angiogenic Growth Factors in human mouse rat

    Primer
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    (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 human and mouse.

    Orthologs for CD59 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cd59b1 , 5 CD59b antigen1, 5 58.54(n)1
    46.22(a)1
      2 (54.51 cM)5
    3338831  NM_181858.11  NP_862906.11 
     1040698495 


    ENSEMBL Gene Tree for CD59 (if available)
    TreeFam Gene Tree for CD59 (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 CD59 (see all 705)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0701244
    Hemolytic anemia, CD59-mediated, with or without polyneuropathy (HACD59)4--see VAR_0701242 C Y mis40--------
    rs1886779211,2
    --33652828(+) CAATCA/GCCCAT 8 -- ds50010--------
    rs615898871,2
    F--33652891(+) TTCTGT/CAAGAA 8 -- ds50011Minor allele frequency- C:0.02WA 118
    rs777623161,2
    C,F--33653306(+) ATTTTT/GTATGT 8 -- ut311Minor allele frequency- G:0.05EA 120
    rs1911832131,2
    --33653437(+) TTAAAC/TAAGAA 8 -- ut310--------
    rs7046971,2
    C,F,A,H--33653473(+) ACAAGC/TATGCA 8 -- ut31 ese327Minor allele frequency- T:0.49NS EA WA NA CSA 2771
    rs1837728121,2
    --33653482(+) CAAGAA/GAACTC 8 -- ut310--------
    rs780006031,2
    F--33653574(+) AAAACC/ACTACG 8 -- ut311Minor allele frequency- A:0.01NA 120
    rs790940331,2
    C,F--33653578(+) CCCTAC/TGGTTG 8 -- ut311Minor allele frequency- T:0.07WA 118
    rs1903414751,2
    --33653581(+) TACGGC/TTGTTT 8 -- ut310--------

    HapMap Linkage Disequilibrium report for CD59 (33719807 - 33758025 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CD59:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832113CNV Gain17160897

    Human Gene Mutation Database (HGMD): CD59
    Locus Specific Mutation Databases (LSDB): CD59

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CD59
    DNA2.0 Custom Variant and Variant Library Synthesis for CD59

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 107271   
    OMIM disorders: 612300  
    UniProtKB/Swiss-Prot: CD59_HUMAN, P13987
  • Hemolytic anemia, CD59-mediated, with or without polyneuropathy (HACD59) [MIM:612300]: An autosomal
    recessive disorder characterized by infantile onset of chronic hemolysis and a relapsing-remitting
    polyneuropathy, often exacerbated by infection, and manifested as hypotonia, limb muscle weakness, and
    hyporeflexia. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 10 diseases for CD59:    
    About MalaCards
    hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy    hemolytic anemia    hemoglobinuria    paroxysmal nocturnal hemoglobinuria
    autoimmune hemolytic anemia    lymphopenia    polymyositis    macroglobulinemia
    polyneuropathy    malaria

    3 diseases from the University of Copenhagen DISEASES database for CD59:
    Anemia     Proteinuria     Bone marrow disease

    Find genes that share disorders with CD59           About GenesLikeMe

    Selected Novoseek inferred disease relationships for CD59 gene (see all 90)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    paroxysmal hemoglobinuria nocturnal 91.5 35 15053802 (2), 1382994 (2), 19154662 (2), 7536494 (2) (see all 25)
    hemolysis 61.9 24 11881969 (2), 7519172 (1), 9145329 (1), 9595015 (1) (see all 15)
    hemoglobinuria 60 2 9844822 (1), 10539884 (1)
    anemia aplastic 57 2 7544152 (1), 11930678 (1)
    somatic mutations 42 2 19399743 (1), 7522635 (1)
    anemia hemolytic 39.8 2 11986227 (1), 11930678 (1)
    tumor escape 39.6 2 16507249 (2)
    inflammation 39 33 16927933 (3), 17337246 (2), 16489052 (2), 19594757 (2) (see all 24)
    autoimmune hemolytic anemia 38.4 3 11930678 (1), 18954403 (1), 17289551 (1)
    cytopenia 29.4 1 17289551 (1)

    Genatlas disease: CD59
    hemoglobinuria,paroxysmal,nocturnal,rare inherited form associated or not with aplastic anemia

    Genetic Association Database (GAD): CD59
    Human Genome Epidemiology (HuGE) Navigator: CD59 (4 documents)

    Export disorders for CD59 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 CD59 gene, integrated from 10 sources (see all 539):
    (articles sorted by number of sources associating them with CD59)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Paroxysmal nocturnal hemoglobinuria due to hereditary nucleotide deletion in the HRF20 (CD59) gene. (PubMed id 1382994)1, 2, 9 Motoyama N.... Okada H. (Eur. J. Immunol. 1992)
    2. Structural composition and functional characterization of soluble CD59: heterogeneity of the oligosaccharide and glycophosphoinositol (GPI) anchor revealed by laser-desorption mass spectrometric analysis. (PubMed id 8670172)1, 2, 9 Meri S.... Baumann M. (Biochem. J. 1996)
    3. Structure of the CD59-encoding gene: further evidence of a relationship to murine lymphocyte antigen Ly-6 protein. (PubMed id 1381503)1, 2, 9 Petranka J.G.... Rosse W.F. (Proc. Natl. Acad. Sci. U.S.A. 1992)
    4. The human complement regulatory protein CD59 binds to the alpha-chain of C8 and to the ''b'' domain of C9. (PubMed id 1377690)1, 2, 9 Ninomiya H. and Sims P.J. (J. Biol. Chem. 1992)
    5. CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy. (PubMed id 23149847)1, 2 Nevo Y....Elpeleg O. (Blood 2013)
    6. Risk of non-Hodgkin lymphoma in association with germline variation in complement genes. (PubMed id 19344414)1, 4 Cerhan J.R....Slager S.L. (Br. J. Haematol. 2009)
    7. Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study. (PubMed id 18842294)1, 4 Ennis S....Lotery A. (Lancet 2008)
    8. Modification-specific proteomics of plasma membrane proteins: identification and characterization of glycosylphosphatidylinositol- anchored proteins released upon phospholipase D treatment. (PubMed id 16602701)1, 2 Elortza F.... Jensen O.N. (J. Proteome Res. 2006)
    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. Proteomic analysis of glycosylphosphatidylinositol-anchored membrane proteins. (PubMed id 14517339)1, 2 Elortza F....Jensen O.N. (Mol. Cell. Proteomics 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 966 HGNC: 1689 AceView: CD59 Ensembl:ENSG00000085063 euGenes: HUgn966
    ECgene: CD59 Kegg: 966 H-InvDB: CD59

    (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 CD59 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CD59 Genetics and Cytogenetics in Oncology and Haematology
    CD59basehttp://bioinf.uta.fi/CD59base/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CD59 gene:
    Search GeneIP for patents involving CD59

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



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