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Aliases for CD59 Gene

Aliases for CD59 Gene

  • CD59 Molecule 2 3
  • CD59 Molecule, Complement Regulatory Protein 2 3 5
  • 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
  • MIC11 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
  • 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 HGNC Symbols for CD59 Gene

  • MIC11
  • MIN1
  • MSK21
  • MIN2
  • MIN3

Previous GeneCards Identifiers for CD59 Gene

  • GC11M035262
  • GC11M034408
  • GC11M033758
  • GC11M033694
  • GC11M033688
  • GC11M033681
  • GC11M033421
  • GC11M033721

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) 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 Hematopoietic cell lineage. 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

Regulatory Elements for CD59 Gene

Enhancers for CD59 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CD59 on UCSC Golden Path with GeneCards custom track

Promoters for CD59 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CD59 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for CD59 Gene

Chromosome:
11
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

Genes around CD59 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD59 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD59 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD59 Gene

Proteins for CD59 Gene

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

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

    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.
  • Glycosylation at Asn 43, Lys 66, His 69, Thr 76, and Thr 77
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for CD59 Gene

Domains & Families for CD59 Gene

Protein Domains for CD59 Gene

Graphical View of Domain Structure for InterPro Entry

P13987

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for CD59 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CD59 Gene

MGI Knock Outs for CD59:

Animal Model Products

CRISPR Products

miRNA for CD59 Gene

miRTarBase miRNAs that target CD59

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
golgi apparatus 5
plasma membrane 5
endoplasmic reticulum 4
cytosol 2
cytoskeleton 1
endosome 1
lysosome 1
mitochondrion 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CD59 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane TAS --
GO:0005925 focal adhesion IDA 21423176
GO:0016020 membrane TAS 1381503
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane TAS --
genes like me logo Genes that share ontologies with CD59: view

Pathways & Interactions for CD59 Gene

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

Gene Ontology (GO) - Biological Process for CD59 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001971 negative regulation of activation of membrane attack complex IEA --
GO:0007596 blood coagulation TAS 1381503
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0030449 regulation of complement activation TAS --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with CD59: view

No data available for SIGNOR curated interactions for CD59 Gene

Drugs & Compounds for CD59 Gene

(16) Drugs for CD59 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(18) Additional Compounds for CD59 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

Protein differential expression in normal tissues from HIPED for CD59 Gene

This gene is overexpressed in Urine (23.3), Milk (9.5), and Nasal epithelium (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CD59: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
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 Cd59b 35
  • 58.54 (n)
  • 46.22 (a)
Cd59b 16
Cd59a 36
  • 41 (a)
OneToMany
Cd59b 36
  • 43 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia CD59 35
  • 98.96 (n)
  • 96.87 (a)
CD59 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cd59 35
  • 61.01 (n)
  • 50.89 (a)
oppossum
(Monodelphis domestica)
Mammalia CD59 36
  • 38 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CD59 36
  • 34 (a)
OneToOne
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
VAR_070124 Hemolytic anemia, CD59-mediated, with or without polyneuropathy (HACD59)
rs704697 -- 33,703,234(+) ACAAG(C/T)ATGCA utr-variant-3-prime
rs704698 -- 33,706,679(+) TACAA(A/G/T)AAGTA utr-variant-3-prime
rs704699 -- 33,706,696(+) ATTGA(A/G)AAACA utr-variant-3-prime
rs704700 -- 33,721,988(-) CCTCC(C/T)GTGTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv832113 CNV Gain 17160897

Variation tolerance for CD59 Gene

Residual Variation Intolerance Score: 50.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.03; 0.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CD59 Gene

HapMap Linkage Disequilibrium report
CD59
Human Gene Mutation Database (HGMD)
CD59

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

Disorders for CD59 Gene

MalaCards: The human disease database

(18) MalaCards diseases for CD59 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CD59 in MalaCards View complete list of genes associated with diseases

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.

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CD59
genes like me logo Genes that share disorders with CD59: view

Publications for CD59 Gene

  1. 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 67
  2. Decreased expression of complement regulatory proteins, CD55 and CD59, on peripheral blood leucocytes in patients with type 2 diabetes and macrovascular diseases. (PMID: 19781296) Ma X.W. … He Y. (Chin. Med. J. 2009) 3 23
  3. Expression levels of CD47, CD35, CD55, and CD59 on red blood cells and signal-regulatory protein-alpha,beta on monocytes from patients with warm autoimmune hemolytic anemia. (PMID: 18954403) Barros M.M. … Bordin J.O. (Transfusion 2009) 3 23
  4. Hepatitis B virus sensitizes hepatocytes to complement-dependent cytotoxicity through downregulating CD59. (PMID: 19804910) Qu Z. … Sun W. (Mol. Immunol. 2009) 3 23
  5. Activity after site-directed mutagenesis of CD59 on complement-mediated cytolysis. (PMID: 18445344) Zhu X. … Lin C. (Cell. Mol. Immunol. 2008) 3 23

Products for CD59 Gene

Sources for CD59 Gene

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