CD59 (CD59 molecule (CD59 blood group))

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 966
Gene name CD59 molecule (CD59 blood group)
Gene symbol CD59
Synonyms (NCBI Gene)
16.3A51F5EJ16EJ30EL32G344HRF-20HRF20MAC-IPMACIFMEM43MIC11MIN1MIN2MIN3MIRLMSK21p18-20
Chromosome 11
Chromosome location 11p13
Summary 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
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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
miRNA miRNA information provided by mirtarbase database.
1261
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
REST Repression 20421646
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0001848 Function Complement binding IBA
GO:0001971 Process Negative regulation of activation of membrane attack complex IBA
GO:0001971 Process Negative regulation of activation of membrane attack complex IDA 1698710, 11882685, 36797260
GO:0005515 Function Protein binding IPI 17500595, 20427317, 24036449, 32296183, 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
107271 1689 ENSG00000085063
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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 Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Primary CD59 deficiency Pathogenic; Likely pathogenic rs587777149, rs1853849281, rs2133545024, rs397514767 RCV000087130
RCV002248983
RCV000019668
RCV000054836
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CD59-related disorder Likely benign; Uncertain significance; Benign rs143169907, rs769967114, rs560254666, rs2231456 RCV003946262
RCV003419232
RCV003896853
RCV004756102
Uterine corpus endometrial carcinoma Uncertain significance rs759088791 RCV005924066
Show/Hide Text Mining Associations (131)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Disease Inhibit 9158095
Adenoma Stimulate 7532345
Adrenoleukodystrophy Associate 29476661
Albuminuria Associate 26772976
alpha Thalassemia Associate 20954559
Alzheimer Disease Associate 11027207, 39773760
Anemia Associate 22761633
Anemia Aplastic Associate 10086790, 16179371, 7858265
Anemia Hemolytic Associate 15667573, 9238050
Anemia Hemolytic Autoimmune Associate 19154662