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Aliases for CD59 Gene

Aliases for CD59 Gene

  • CD59 Molecule (CD59 Blood Group) 2 3
  • CD59 Antigen P18-20 (Antigen Identified By Monoclonal Antibodies 16.3A5, EJ16, EJ30, EL32 And G344) 2 3
  • CD59 Molecule, Complement Regulatory Protein 2 3
  • Membrane Attack Complex Inhibition Factor 3 4
  • Membrane Inhibitor Of Reactive Lysis 3 4
  • 20 KDa Homologous Restriction Factor 3 4
  • CD59 Molecule 2 5
  • 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
  • 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 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 (CD59 Blood Group)) is a Protein Coding gene. Diseases associated with CD59 include Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy and Hemolytic Anemia. Among its related pathways are Transport to the Golgi and subsequent modification and Innate Immune System. 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G033687 2 FANTOM5 Ensembl ENCODE dbSUPER 25.3 +43.5 43468 11.3 PKNOX1 FOXA2 SIN3A FEZF1 ZNF2 YY1 ZNF766 FOS REST ZNF592 CD59 KIAA1549L LOC105376617 FBXO3 FBXO3-AS1 PIR36412
GH11G033699 1.7 FANTOM5 ENCODE dbSUPER 29.7 +32.7 32690 9.3 HDGF PKNOX1 ARNT AGO1 ZFP64 ARID4B SIN3A DMAP1 YY1 FOS CD59 LOC105376617 FBXO3-AS1 FBXO3 GC11M033703 C11orf91
GH11G033731 1.3 ENCODE dbSUPER 23.1 +1.4 1363 7.7 HDGF PKNOX1 ARNT WRNIP1 ARID4B SIN3A FEZF1 YY1 ZNF766 ZNF143 CD59 LOC105376617 FBXO3-AS1 KIAA1549L FBXO3 ENSG00000255272 ENSG00000254619 GC11P033706
GH11G033718 1.5 Ensembl ENCODE dbSUPER 18.2 +14.2 14206 7.3 PKNOX1 FOXA2 ATF1 ARNT SIN3A BRCA1 GATA2 FOS DEK JUNB FBXO3 FBXO3-AS1 CD59 LOC105376617 ENSG00000255272 NAT10 KIAA1549L C11orf91 TCP11L1 GC11P033706
GH11G033773 1 ENCODE 21.5 -37.9 -37876 1.8 ARID4B SIN3A ZNF48 YY1 GLIS2 SP3 SP5 YY2 REST SMARCB1 CD59 CSTF3 FBXO3 FBXO3-AS1 NAT10 LOC105376617
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000038591 979 2601 HDGF PKNOX1 WRNIP1 ARID4B SIN3A FEZF1 ZNF48 YY1 GLIS2 ELK1

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

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 posLast=4343, Lys66, posLast=6969, posLast=7676, and posLast=7777
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CD59 (CD59)
  • Abcam antibodies for CD59

Assay Products

  • Cloud-Clone Corp Assay Kits for CD59

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

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

No data available for UniProtKB/Swiss-Prot for CD59 Gene

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

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

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CD59 gene
Compartment Confidence
plasma membrane 5
extracellular 5
golgi apparatus 5
endoplasmic reticulum 4
cytosol 2
cytoskeleton 1
mitochondrion 1
nucleus 1
lysosome 1
endosome 1

Gene Ontology (GO) - Cellular Components for CD59 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 16502470
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma 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:0001775 cell activation IBA --
GO:0001971 negative regulation of activation of membrane attack complex IEA --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007166 cell surface receptor signaling pathway TAS 7691713
GO:0007596 blood coagulation TAS 1381503
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

(19) Drugs for CD59 Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Complement System Proteins Pharma 232

(16) 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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for CD59 Gene



NURSA nuclear receptor signaling pathways regulating expression of CD59 Gene:

CD59

SOURCE GeneReport for Unigene cluster for CD59 Gene:

Hs.278573

Evidence on tissue expression from TISSUES for CD59 Gene

  • Nervous system(4.9)
  • Intestine(4.8)
  • Blood(4.7)
  • Liver(4.7)
  • Skin(4.6)
  • Lung(4.5)
  • Urine(4.3)
  • Heart(4.2)
  • Kidney(4.2)
  • Pancreas(3.9)
  • Eye(3.7)
  • Muscle(3.3)
  • Bone marrow(3.2)
  • Spleen(2.6)
  • Stomach(2.6)
  • Lymph node(2.5)
  • Gall bladder(2.4)
  • Thyroid gland(2.2)
  • Adrenal gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CD59 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • cerebrospinal fluid
  • head
  • meninges
  • neck
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with CD59: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners 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 34 35
  • 98.96 (n)
cow
(Bos Taurus)
Mammalia CD59 34 35
  • 70.51 (n)
dog
(Canis familiaris)
Mammalia CD59 34 35
  • 68.32 (n)
rat
(Rattus norvegicus)
Mammalia Cd59 34
  • 61.01 (n)
mouse
(Mus musculus)
Mammalia Cd59b 34 16 35
  • 58.54 (n)
Cd59a 35
  • 41 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia CD59 35
  • 38 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CD59 35
  • 34 (a)
OneToOne
Species where no ortholog for CD59 was found in the sources mined by GeneCards:
  • 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
rs397514767 Pathogenic, Hemolytic anemia, CD59-mediated, with or without polyneuropathy (HACD59) [MIM:612300] 33,710,247(-) CTGCT(A/G)CAAGA reference, missense
rs587777149 Pathogenic 33,717,393(+) ACGCA(-/T)CAAAA reference, frameshift-variant
rs1000051887 -- 33,713,198(+) GTATT(A/G)GTTGA intron-variant
rs1000093285 -- 33,716,613(+) CTTTC(C/T)TCTGT intron-variant
rs1000166933 -- 33,716,840(+) GTCCT(C/T)TGAGC intron-variant

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

Variant ID Type Subtype PubMed ID
esv3625894 CNV loss 21293372
nsv832113 CNV gain 17160897
nsv975901 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
CD59
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD59

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

Disorders for CD59 Gene

MalaCards: The human disease database

(26) MalaCards diseases for CD59 Gene - From: OMIM, ClinVar, GeneTests, 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. 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 22 64
  2. 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 22 64
  3. 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 22 64
  4. CD59: A long-known complement inhibitor has advanced to a blood group system. (PMID: 27187193) Weinstock C. … von Zabern I. (Immunohematology 2015) 2 3 64
  5. CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy. (PMID: 23149847) Nevo Y. … Elpeleg O. (Blood 2013) 3 4 64

Products for CD59 Gene

  • Addgene plasmids for CD59

Sources for CD59 Gene

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