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Aliases for CD59 Gene

Aliases for CD59 Gene

  • CD59 Molecule, Complement Regulatory Protein 2 3
  • MIC11 3 4 6
  • CD59 Antigen P18-20 (Antigen Identified By Monoclonal Antibodies 16.3A5, EJ16, EJ30, EL32 And G344) 2 3
  • Membrane Attack Complex Inhibition Factor 3 4
  • Membrane Inhibitor Of Reactive Lysis 3 4
  • 20 KDa Homologous Restriction Factor 3 4
  • MEM43 Antigen 3 4
  • 1F5 Antigen 3 4
  • Protectin 3 4
  • HRF-20 3 4
  • MAC-IP 3 4
  • MSK21 3 4
  • HRF20 3 4
  • MACIF 3 4
  • MIN1 3 4
  • MIN2 3 4
  • MIN3 3 4
  • MIRL 3 4
  • Surface Anitgen Recognized By Monoclonal Antibody 16.3A5 3
  • Membrane Attack Complex (MAC) Inhibition Factor 3
  • CD59 Antigen, Complement Regulatory Protein 2
  • Lymphocytic Antigen CD59/MEM43 3
  • Human Leukocyte Antigen MIC11 3
  • T Cell-Activating Protein 3
  • MAC-Inhibitory Protein 4
  • CD59 Glycoprotein 3
  • Ly-6-Like Protein 3
  • CD59 Antigen 4
  • 16.3A5 3
  • P18-20 3
  • MEM43 3
  • EJ16 3
  • EJ30 3
  • EL32 3
  • G344 3
  • 1F5 3

External Ids for CD59 Gene

Previous Symbols for CD59 Gene

  • MIC11
  • MIN1
  • MSK21
  • MIN2
  • MIN3

Summaries for CD59 Gene

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 primary cd59 deficiency. Among its related pathways are Complement and coagulation cascades and Arf6 trafficking events. GO annotations related to this gene include complement binding.

UniProtKB/Swiss-Prot for CD59 Gene

  • 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

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD59 Gene

Genomics for CD59 Gene

Genomic Location for CD59 Gene

Start:
33,698,261 bp from pter
End:
33,736,479 bp from pter
Size:
38,219 bases
Orientation:
Minus strand

Genomic View for CD59 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CD59 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD59 Gene

Regulatory Elements for CD59 Gene

Transcription factor binding sites by QIAGEN in the CD59 gene promoter:

Proteins for CD59 Gene

  • Protein details for CD59 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13987-CD59_HUMAN
    Recommended name:
    CD59 glycoprotein
    Protein Accession:
    P13987
    Secondary Accessions:

    Protein attributes for CD59 Gene

    Size:
    128 amino acids
    Molecular mass:
    14177 Da
    Quaternary structure:
    • Interacts with T-cell surface antigen CD2.

    Three dimensional structures from OCA and Proteopedia for CD59 Gene

neXtProt entry for CD59 Gene

Proteomics data for CD59 Gene at MOPED

Post-translational modifications for CD59 Gene

  • 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 diabetes
  • 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 variants.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn43, Lys66, His69, Thr76, and Thr77

No data available for DME Specific Peptides for CD59 Gene

Domains for CD59 Gene

Gene Families for CD59 Gene

HGNC:

Protein Domains for CD59 Gene

Graphical View of Domain Structure for InterPro Entry

P13987

UniProtKB/Swiss-Prot:

CD59_HUMAN
Domain:
  • Contains 1 UPAR/Ly6 domain.:
    • P13987
genes like me logo Genes that share domains with CD59: view

Function for CD59 Gene

Molecular function for CD59 Gene

GENATLAS Biochemistry: cell differentiation antigen CD59 (gp18),18-20kDa,glycosyl-phosphatidylinositol (GPI) linked membrane glycoprotein,identified by monoclonal antibodies YTH53.1,MEM-43 (protectin)
UniProtKB/Swiss-Prot 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
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for CD59 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001848 complement binding IBA --
GO:0005515 protein binding IPI 20427317
genes like me logo Genes that share ontologies with CD59: view
genes like me logo Genes that share phenotypes with CD59: view

Animal Models for CD59 Gene

MGI Knock Outs for CD59:

miRNA for CD59 Gene

miRTarBase miRNAs that target CD59

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for CD59 Gene

Localization for CD59 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD59 Gene

Cell membrane; Lipid-anchor, GPI-anchor. Secreted. Note=Soluble form found in a number of tissues.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CD59 Gene COMPARTMENTS Subcellular localization image for CD59 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytoskeleton 1
endosome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CD59 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IBA --
GO:0005615 extracellular space IDA 16502470
GO:0005886 plasma membrane TAS --
GO:0005925 focal adhesion IDA 21423176
GO:0009986 cell surface IDA 15907827
genes like me logo Genes that share ontologies with CD59: view

Pathways for CD59 Gene

genes like me logo Genes that share pathways with CD59: view

Pathways by source for CD59 Gene

Gene Ontology (GO) - Biological Process for CD59 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001775 cell activation IBA --
GO:0001971 negative regulation of activation of membrane attack complex IEA --
GO:0007166 cell surface receptor signaling pathway TAS 7691713
GO:0007596 blood coagulation TAS 1381503
GO:0030449 regulation of complement activation TAS --
genes like me logo Genes that share ontologies with CD59: view

Compounds for CD59 Gene

(34) Novoseek inferred chemical compound relationships for CD59 Gene

Compound -log(P) Hits PubMed IDs
hmcp 69 2
docosahexaenoic acid 64 15
eicosapentaenoic acid 58.7 10
anaphylatoxin 53.2 1
galalpha(1,3)gal 50.1 2
genes like me logo Genes that share compounds with CD59: view

Transcripts for CD59 Gene

Unigene Clusters for CD59 Gene

CD59 molecule, complement regulatory protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CD59 Gene

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: - - - - -
SP6: - - - - - -
SP7: - - - -
SP8: -
SP9:
SP10:

Relevant External Links for CD59 Gene

GeneLoc Exon Structure for
CD59
ECgene alternative splicing isoforms for
CD59

Expression for CD59 Gene

mRNA expression in normal human tissues for CD59 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CD59 Gene

SOURCE GeneReport for Unigene cluster for CD59 Gene Hs.278573

genes like me logo Genes that share expressions with CD59: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CD59 Gene

Orthologs for CD59 Gene

This gene was present in the common ancestor of mammals.

Orthologs for CD59 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CD59 35
  • 98.96 (n)
  • 96.87 (a)
CD59 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CD59 35
  • 70.51 (n)
  • 52.88 (a)
CD59 36
  • 49 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CD59 35
  • 68.32 (n)
  • 49.59 (a)
CD59 36
  • 42 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cd59a 36
  • 41 (a)
OneToMany
Cd59b 35
  • 58.54 (n)
  • 46.22 (a)
Cd59b 16
Cd59b 36
  • 43 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia CD59 36
  • 38 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CD59 36
  • 34 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cd59 35
  • 61.01 (n)
  • 50.89 (a)
Species with no ortholog for CD59:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CD59 Gene

ENSEMBL:
Gene Tree for CD59 (if available)
TreeFam:
Gene Tree for CD59 (if available)

Paralogs for CD59 Gene

No data available for Paralogs for CD59 Gene

Variants for CD59 Gene

Sequence variations from dbSNP and Humsavar for CD59 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs842 -- 33,709,860(-) CTCTT(A/G)GGAAG utr-variant-3-prime
rs7046 -- 33,705,434(-) CACCA(C/T)AGTGG utr-variant-3-prime
rs7357 -- 33,708,715(-) GTTCC(A/C)TGAAC utr-variant-3-prime
rs11585 -- 33,706,159(-) TTTCT(C/T)TTTTT utr-variant-3-prime
rs12136 -- 33,710,078(-) TAGTC(C/T)GCTTT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CD59 Gene

Variant ID Type Subtype PubMed ID
nsv832113 CNV Gain 17160897

Relevant External Links for CD59 Gene

HapMap Linkage Disequilibrium report
CD59
Human Gene Mutation Database (HGMD)
CD59
Locus Specific Mutation Databases (LSDB)
CD59

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CD59 Gene

Disorders for CD59 Gene

(1) OMIM Diseases for CD59 Gene (107271)

UniProtKB/Swiss-Prot

CD59_HUMAN
  • 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. {ECO:0000269 PubMed:1382994, ECO:0000269 PubMed:23149847}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for CD59 Gene

(90) Novoseek inferred disease relationships for CD59 Gene

Disease -log(P) Hits PubMed IDs
paroxysmal hemoglobinuria nocturnal 91.5 31
hemolysis 61.9 16
hemoglobinuria 60 2
anemia aplastic 57 2
somatic mutations 42 2

Genatlas disease for CD59 Gene

hemoglobinuria,paroxysmal,nocturnal,rare inherited form associated or not with aplastic anemia

Relevant External Links for CD59

Genetic Association Database (GAD)
CD59
Human Genome Epidemiology (HuGE) Navigator
CD59
genes like me logo Genes that share disorders with CD59: view

Publications for CD59 Gene

  1. Structure of the CD59-encoding gene: further evidence of a relationship to murine lymphocyte antigen Ly-6 protein. (PMID: 1381503) Petranka J.G. … Rosse W.F. (Proc. Natl. Acad. Sci. U.S.A. 1992) 3 4 23
  2. Paroxysmal nocturnal hemoglobinuria due to hereditary nucleotide deletion in the HRF20 (CD59) gene. (PMID: 1382994) Motoyama N. … Okada H. (Eur. J. Immunol. 1992) 3 4 23
  3. The human complement regulatory protein CD59 binds to the alpha-chain of C8 and to the ''b'' domain of C9. (PMID: 1377690) Ninomiya H. … Sims P.J. (J. Biol. Chem. 1992) 3 4 23
  4. Structural composition and functional characterization of soluble CD59: heterogeneity of the oligosaccharide and glycophosphoinositol (GPI) anchor revealed by laser-desorption mass spectrometric analysis. (PMID: 8670172) Meri S. … Baumann M. (Biochem. J. 1996) 3 4 23
  5. CD2-mediated CD59 stimulation in keratinocytes results in secretion of IL-1alpha, IL-6, and GM-CSF: implications for the interaction of keratinocytes with intraepidermal T lymphocytes. (PMID: 10341291) Naderi S. … Reinhold U. (Int. J. Mol. Med. 1999) 3 23

Products for CD59 Gene

Sources for CD59 Gene

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