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CD59 (CD59 molecule (CD59 blood group))
Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
966
Gene nameGene Name - the full gene name approved by the HGNC.
CD59 molecule (CD59 blood group)
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CD59
SynonymsGene synonyms aliases
16.3A5, 1F5, EJ16, EJ30, EL32, G344, HRF-20, HRF20, MAC-IP, MACIF, MEM43, MIC11, MIN1, MIN2, MIN3, MIRL, MSK21, p18-20
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p13
SummarySummary of gene provided in NCBI Entrez 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs397514767 C>T Pathogenic Missense variant, coding sequence variant
rs587777149 T>- Pathogenic Coding sequence variant, frameshift variant
rs1554939509 A>C Likely-pathogenic Coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT002624 hsa-miR-124-3p Microarray 15685193
MIRT002624 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT002624 hsa-miR-124-3p Microarray 15685193
MIRT049073 hsa-miR-92a-3p CLASH 23622248
MIRT047711 hsa-miR-10a-5p CLASH 23622248
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Transcription factor Regulation Reference
REST Repression 20421646
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0001848 Function Complement binding IBA 21873635
GO:0001971 Process Negative regulation of activation of membrane attack complex IBA 21873635
GO:0005515 Function Protein binding IPI 17500595, 20427317, 24036449, 32296183, 32814053
GO:0005615 Component Extracellular space HDA 16502470
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P13987
Protein name CD59 glycoprotein (1F5 antigen) (20 kDa homologous restriction factor) (HRF-20) (HRF20) (MAC-inhibitory protein) (MAC-IP) (MEM43 antigen) (Membrane attack complex inhibition factor) (MACIF) (Membrane inhibitor of reactive lysis) (MIRL) (Protectin) (CD ant
Protein function Potent inhibitor of the complement membrane attack complex (MAC) action, which protects human cells from damage during complement activation (PubMed:11882685, PubMed:1698710, PubMed:2475111, PubMed:2475570, PubMed:2606909, PubMed:9053451). Acts
PDB 1CDQ , 1CDR , 1CDS , 1ERG , 1ERH , 2J8B , 2OFS , 2UWR , 2UX2 , 4BIK , 5IMT , 5IMY , 6ZD0 , 8B0F , 8B0G , 8B0H , 8CN6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00021 UPAR_LY6
28 → 95
u-PAR/Ly-6 domain
 Domain
Sequence 
MGIQGGSVLFGLLLVLAVFCHSGHSLQCYNCPNPTADCKTAVNCSSDFDACLITKAGLQV
YNKCWKFEHCNFNDVTTRLRENELTYYCCKKDLCNFNEQLENGGTSLSEKTVLLLVTPFL
AAAWSLHP
Sequence length 128
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Complement and coagulation cascades
Hematopoietic cell lineage 		  COPII-mediated vesicle transport
Cargo concentration in the ER
Neutrophil degranulation
COPI-mediated anterograde transport
Regulation of Complement cascade
Associated diseases
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Anemia Anemia, Hemolytic rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Cd59 deficiency CD59 Deficiency, Primary CD59 deficiency rs2133545024, rs397514767, rs587777149 25716358, 23149847, 24382084, 1382994, 25716358
Complement component deficiency Complement deficiency disease rs387906509, rs1467298230, rs1022194067, rs774370086, rs121964922, rs372345940, rs121913052, rs121913053, rs460897, rs121913054, rs121913056, rs121913058, rs796052138, rs41286844, rs121909592, rs34000044, rs121909594, rs121909587, rs121909588, rs387906554, rs587776846, rs2135727106, rs460184, rs775967055, rs398122811, rs140813121, rs146187042, rs372968576, rs398122867, rs398122868, rs9332736, rs398124644, rs142881576, rs531103546, rs764871530, rs778518669, rs139491301, rs61469168, rs1554718962, rs1565789104, rs1579848888, rs779723422, rs867425110, rs770367814 25716358
Dyskeratosis congenita, x-linked X-Linked Dyskeratosis Congenita rs121912293, rs137854489, rs121912292, rs121912294, rs121912295, rs121912288, rs1603429348, rs121912304, rs28936072, rs137854491, rs1569558616, rs199422252, rs121912289, rs121912297, rs1114167422, rs1557265435, rs1557264102 24382084
Unknown
Disease name Disease term dbSNP ID References
Hemolysis Chronic Hemolysis 25716358

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