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CD59 Gene

protein-coding   GIFtS: 68

GC11M033681
CD59 molecule, complement regulatory protein
(Previous names: CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344), CD59 antigen, complement regulatory protein )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: MIC11, MIN1, MSK21, MIN2, MIN3)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
16.3A5 1, 2
1F5 2
EJ16 1, 2
EJ30 1, 2
EL32 1, 2
FLJ38134 2
FLJ92039 2
G344 1, 2
HRF-20 2, 3
HRF20 2, 3
MAC-IP 2, 3
MACIF 2, 3
MEM43 2
MGC2354 2
MIC11 2, 3, 5
MIN1 2, 3
MIN2 2, 3
MIN3 2, 3
MIRL 2, 3
MSK21 2, 3
Protectin 3
p18-20 1, 2
protectin 2
Descriptions
1F5 antigen 3
20 kDa homologous restriction factor 2, 3
CD59 antigen 2, 3
CD59 antigen p18-20 (antigen identified by monoclonal
antibodies 16.3A5, EJ16, EJ30, EL32 and G344) 1, 2
CD59 antigen, complement regulatory protein 1
CD59 glycoprotein 2
CD59 molecule, complement regulatory protein 2
Ly-6-like protein 2
MAC-inhibitory protein 3
MEM43 antigen 3
Membrane attack complex inhibition factor 3
Membrane inhibitor of reactive lysis 2, 3
T cell-activating protein 2
human leukocyte antigen MIC11 2
lymphocytic antigen CD59/MEM43 2
membrane attack complex (MAC) inhibition factor 2
surface anitgen recognized by monoclonal antibody 16.3A5 2
External Ids
HGNC: 16891
Entrez Gene: 9662
UniProtKB: P139873
Ensembl: ENSG000000850637
Search outside databases for aliases for CD59 gene

Previous GC identifers: GC11M035262 GC11M034408 GC11M033758 GC11M033694 GC11M033688

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for CD59:
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]

UniProtKB/Swiss-Prot: CD59_HUMAN, P13987
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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the CD59 gene  

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)

GeneLoc gene densities for chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M033681:     (about GC identifiers)

Start:
33,681,132 bp from pter
End:
33,714,600 bp from pter
Size:
33,469 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000011.8  NT_009237.17  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

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
Subcellular location: Cell membrane; Lipid-anchor, GPI-anchor. Secreted. Note=Soluble form found in
a number of tissues
PDB structures from and Proteopedia :
1CDQ (3D)    1CDR (3D)    1CDS (3D)    1ERG (3D)    1ERH (3D)    2J8B (3D)    2OFS (3D)    2UWR (3D)    
2UX2 (3D)    

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


  • 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: 
    ENSP00000340210 ENSP00000379191 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (CD59)
    Human Recombinant Proteins from Abnova (CD59)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    5 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576 extracellular region IEA--
    GO:0005624 membrane fraction TAS1381503
    GO:0005886 plasma membrane NAS1381503
    GO:0031225 anchored to membrane IEA--
    GO:0031362 anchored to external side of plasma membrane IDA9724629
    About this table

    Antibodies for CD59: 
    Invitrogen Antibodies for CD59
    Millipore Mono- and Polyclonal Antibodies for the study of CD59
    Sigma-Aldrich Antibodies for CD59
    R&D Systems Antibodies for CD59
    Antibodies from Abcam (CD59), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (CD59)
    Novus Biologicals Antibodies for CD59

    Assays for CD59: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    3 InterPro domains/families:
     IPR018363 CD59_antigen_CS
     IPR016054 LY6_UPA_recep-like
     IPR001526 LY6_UPAR


       GeneDecks  CD59 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P13987

    ProtoNet protein and cluster: P13987

    1 Blocks protein family: IPB001526 CD59 antigen

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

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (CD59)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (CD59)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 8): NM_203329

                  Applied Biosystems Silencer® siRNAs for CD59

                  Sigma-Aldrich siRNA and siRNA Panels for CD59  
                         Sigma-Aldrich shRNA for CD59  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for CD59
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 8): NM_000611
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 8): NM_000611
                                     untagged cDNA clones in CMV expression vector (see all 8): NM_000611 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000611

    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

    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)

    4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cd59b):

    hematopoietic systemhomeostasis/metabolismrenal/urinary systemreproductive system

    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515 protein binding IPI12577067
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    1 Invitrogen iPath™ Online BioAtlas - Pathway for CD59 (Maps provided by GeneGo):
     Alternative complement pathway

       GeneDecks  CD59 for the pathways selected above  
    About GeneDecksing

    3 Millipore Pathways for CD59
     Immune response Alternative complement pathway
     Immune response Classic complement pathway
     Immune response Lectin Induced complement pathway

       GeneDecks  CD59 for the pathways selected above  
    About GeneDecksing

    1 Sigma-Aldrich "Your Favorite Gene" Pathway for  CD59  (Your Favorite Gene powered by Ingenuity) 
     Complement System

       GeneDecks  CD59 for the pathways selected above  
    About GeneDecksing

    2 Kegg Pathways  (Kegg details for CD59):
     hsa04610 Complement and coagulation cascades
     hsa04640 Hematopoietic cell lineage

       GeneDecks  CD59 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  CD59 


    5/49 Interacting proteins for CD59 (ENSP000003402103 P139871, 2) via UniProtKB, MINT, and/or STRING (see all 49 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EGFRP005331EBI-297972, EBI-297353
    GRB2P629932MINT-61560
    SMAD4Q134852MINT-61968
    C9ENSP000002634083STRING (score=.973)
    CD55ENSP000003560303STRING (score=.962)
    About this table

    2 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007166 cell surface receptor linked signal transduction TAS7691713
    GO:0007596 blood coagulation TAS1381503
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for CD59
    10/25 Novoseek chemical compound relationships for CD59 gene (see all 25 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    hmcp 69.43 2 16324389 (1), 15693845 (1)
    docosahexaenoic acid 57.51 17 18489792 (2), 18922179 (1), 19221636 (1), 17244615 (1) (see all 10)
    eicosapentaenoic acid 55.92 14 18489792 (2), 18922179 (1), 19221636 (1), 16799203 (1) (see all 7)
    galalpha(1,3)gal 50.83 3 10910270 (2)
    glycolipid 32.71 4 7527603 (1), 1372260 (1), 8804039 (1), 1280224 (1)
    phosphatidylinositol 31.13 34 1379443 (4), 12950982 (2), 2242615 (2), 7527236 (1) (see all 12)
    lipid 22.44 41 7519171 (3), 1698710 (2), 16927933 (2), 18673006 (2) (see all 24)
    ganglioside 21.35 6 9003426 (1), 8569195 (1), 10064071 (1), 7688394 (1) (see all 5)
    thiazole 18.75 2 9595015 (1), 7536494 (1)
    sucrose 18.11 4 9003426 (1), 12186694 (1), 10611479 (1), 15373568 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (CD59)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (CD59)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 8): NM_203329

                  Sigma-Aldrich siRNA and siRNA Panels for CD59  
                         Sigma-Aldrich shRNA for CD59  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000611  NM_001127223  NM_001127225  NM_001127226  NM_001127227  NM_203329  NM_203330  NM_203331  

    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   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000611  NM_001127223  NM_001127225  NM_001127226  NM_001127227  NM_203329  NM_203330  NM_203331  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 8): NM_000611
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 8): NM_000611
                                     untagged cDNA clones in CMV expression vector (see all 8): NM_000611 

    Additional cDNA sequence: 

    AB231759.1 AB231760.1 BT007104.1 CR407661.1 CR541722.1 CR624551.1 M27909.1 XM_001717207.1 

    24/58 DOTS entries (see all 58 ):

    DT.100883726  DT.95110568  DT.95179543  DT.100883738  DT.100783392  DT.95226254  DT.40272730  DT.95179586 
    DT.100883723  DT.100883703  DT.100883737  DT.91887599  DT.455383  DT.120725036  DT.120725237  DT.95179583 
    DT.95179510  DT.92470437  DT.100883742  DT.100783395  DT.95179506  DT.95179588  DT.120725042  DT.100883739 

    24/1489 AceView cDNA sequences (see all 1489 ):

    AL545376 CR612934 BF725725 CN480099 AA564405 AA644310 F02706 CD108899 
    AI753208 BU150707 AI174829 CN482497 CR607196 BM704103 H96384 AI126266 
    BI118113 BQ005775 CD609149 BQ101122 CB122979 AW166662 F04248 N41637 

    highest scoring ESTs for CD59:

    AA399092 AI653117 AL049957 AL538321 AL543263 AL546036 AL546738 AL547341 AL703204 AU133873 

    Unigene Clusters for CD59:

    CD59 molecule, complement regulatory protein
    Hs.278573  [show with all ESTs], Hs.709466  [show with all ESTs]
    Unigene Representative Sequences: NM_001127223, BG112791


    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for CD59 (see all 10 )

    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:                    -     -     -     -                       -                                                   

    About this scheme

    ECgene alternative splicing isoforms for CD59

    2 Ensembl transcripts including schematic representations:
    ENST00000351554  ENST00000395850  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    CD59 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for CD59

    1 / 2 / 3

    14 probe-sets matching CD59 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    62133_at2, 3 U95-C 1 1.00 1.00 0.89 0.69 AI653117 0.80 1.00 0.91 1

    39170_at2, 3 U95-A 1 1.00 1.00 0.90 1.08 AL049957 0.80 1.00 0.91 1
    39351_at2, 3 U95-A 1 1.00 1.00 0.94 1.00 M84349 0.20 1.00 0.72 1

    64271_at2, 3 U95-C 1 0.88 1.00 0.64 1.25 AW024434 0.80 1.00 0.91 1

    228748_at2, 3 U133-B 1 1.00 1.00 -- -- AI653117 0.80 1.00 0.91 1

    200983_x_at2, 3 U133-A 1 1.00 1.00 -- -- BF983379 0.60 1.00 0.82 1

    200984_s_at2, 3 U133-A 1 1.00 1.00 -- -- X16447 0.80 1.00 0.91 1

    200985_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000611 0.60 1.00 0.82 1

    212463_at2, 3 U133-A 3 1.00 0.94 -- -- BE379006 0.60 1.00 0.82 1

    228748_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    200983_x_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    200984_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    200985_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    212463_at2 U133Plus2 3 1.00 0.94 -- -- -- -- -- -- --
    GeneDecks  CD59 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene clusters: Hs.278573 Hs.709466

    Expression variation in blood from EXPOLDB for CD59

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for CD59 gene from 5 species
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    CD591   -- CD59 molecule, complement regulatory protein 68.32(n)
    49.59(a)
    475945  XM_533156.2  XP_533156.1 
    chimpanzee
    (Pan troglodytes)
    CD591   -- CD59 molecule, complement regulatory protein 99.02(n)
    97.06(a)
    739046  XM_001140212.1  XP_001140212.1 
    cow
    (Bos taurus)
    CD591   -- CD59 molecule, complement regulatory protein 69.88(n)
    53.51(a)
    505574  NM_001037446.1  NP_001032523.1 
    rat
    (Rattus norvegicus)
    Cd591   -- CD59 molecule, complement regulatory protein 61.01(n)
    50.89(a)
    25407  NM_012925.1  NP_037057.1 
    mouse
    (Mus musculus)
    Cd59b1, 5 25
    CD59b antigen1, 5 60.12(n)1
    48.21(a)1
    3338831  NM_181858.11  NP_862906.11 
     AF2924015  BC0381285  (see all 10)
    About this table        Species with no ortholog for CD59

    ENSEMBL Gene Tree for CD59
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

      --
    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/212 NCBI SNPs in CD59 are shown (see all 212 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 123)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 11 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs8316031,2
    A,C,F,H,O33715214(+) CAGGGG/AATCCG 4 -- ng3111Minor allele frequency- A:0.36EU EA WA NA 964
    rs17180671,2
    A,C,F,H,O33716246(+) TTTCCT/CAAGAT 4 -- ng3111Minor allele frequency- C:0.40EU EA WA NA 978
    rs10475811,2
    A,C,F,H,O33681568(-) GTGACA/GTAGTG 8 -- ut3112Minor allele frequency- G:0.16EA NA EU WA 1046
    rs22314611,2
    A,C,F,H33688121(-) CTTGAG/CCAACC 8 -- ut318Minor allele frequency- C:0.07EU EA WA 838
    rs122726601,2
    A,C,F,H33684091(+) GGGGTT/CGGCCA 8 -- ut31 ese34Minor allele frequency- C:0.03EU EA WA 420
    rs73571,2
    A,C,F,H33686837(-) GTTCCC/ATGAAC 8 -- ut31 ese314Minor allele frequency- A:0.12MN EA EU WA NA 2842
    rs8421,2
    A,C,F,H33687982(-) CTCTTG/AGGAAG 8 -- ut31 ese312Minor allele frequency- A:0.11MN EA EU WA 2718
    rs8316181,2
    A,C,F,H33685190(+) GTATAG/TAAAAC 8 -- ut31 ese34Minor allele frequency- T:0.47EU EA WA 408
    rs110323491,2
    A,C,F,H33686248(+) ACTATA/TAATGT 8 -- ut318Minor allele frequency- T:0.12EU EA WA 830
    rs70461,2
    A,C,F,H33683556(-) CACCAC/TAGTGG 8 -- ut31 ese36Minor allele frequency- T:0.40MN EU EA WA 762
    About this table

    HapMap Linkage Disequilibrium images for CD59 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 107271   disorders: 612300  

    UniProtKB/Swiss-Prot: CD59_HUMAN, P13987

  • Defects in CD59 are the cause of CD59 deficiency [MIM:612300]
  • 10/90 Novoseek disease relationships for CD59 gene (see all 90 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    paroxysmal hemoglobinuria nocturnal 91.57 35 15053802 (2), 1382994 (2), 19154662 (2), 7536494 (2) (see all 25)
    hemolysis 61.00 23 11881969 (2), 7519172 (1), 9145329 (1), 9595015 (1) (see all 14)
    hemoglobinuria 60.94 2 9844822 (1), 10539884 (1)
    anemia aplastic 53.81 2 7544152 (1), 11930678 (1)
    tumor escape 41.06 2 16507249 (2)
    somatic mutations 40.93 2 19399743 (1), 7522635 (1)
    autoimmune hemolytic anemia 39.58 3 11930678 (1), 18954403 (1), 17289551 (1)
    anemia hemolytic 38.03 2 11986227 (1), 11930678 (1)
    inflammation 33.61 25 16927933 (3), 17337246 (2), 16489052 (2), 17182589 (1) (see all 18)
    cytopenia 31.46 1 17289551 (1)
    About this table

    1 PharmGKB disease relationship for CD59 gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, Lymphocytic, Acute, L1FA  GN  12730115
    About this table

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

    Human Gene Mutation Database: CD59
    Human Genome Epidemiology Navigator: CD59 (2 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/477 PubMed articles for CD59 gene (see all 477 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for CD59 Genetics and Cytogenetics in Oncology and Haematology
    CD59basehttp://bioinf.uta.fi/CD59base/
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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