Gene Gene information from NCBI Gene database.
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
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
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
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
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.
MIM HGNC e!Ensembl
107271 1689 ENSG00000085063
Protein Protein information from UniProt database.
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
YNKCWKFEHCNFNDVTTRLRENELTYYCCKKDLCN
FNEQLENGGTSLSEKTVLLLVTPFL
AAAWSLHP
Sequence length 128
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Primary CD59 deficiency Pathogenic; Likely pathogenic rs587777149, rs1853849281, rs2133545024, rs397514767 RCV000087130
RCV002248983
RCV000019668
RCV000054836
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CD59-related disorder Likely benign; Uncertain significance; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 9238050
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10680700
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 15389793
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy Pubtator 29476661 Associate
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 10680700
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 25146331
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 21552568, 22024702, 23097248, 31082363
★☆☆☆☆
Found in Text Mining only
alpha Thalassemia Alpha thalassemia Pubtator 20954559 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 11027207, 39773760 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 27056040
★☆☆☆☆
Found in Text Mining only