Gene: CD59 (CD59 molecule, complement regulatory protein)  Homo sapiens

Symbol: CD59
Name: CD59 molecule, complement regulatory protein
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 16.3A5; 1F5; 1F5 antigen; 20 kDa homologous restriction factor; cd59 antigen; CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344); CD59 glycoprotein; EJ16; EJ30; EL32; FLJ38134; FLJ92039; G344; HRF-20; HRF20; human leukocyte antigen MIC11; Ly-6-like protein; lymphocytic antigen CD59/MEM43; MAC-IP; MACIF; MEM43; MEM43 antigen; membrane attack complex (MAC) inhibition factor; membrane attack complex inhibition factor; membrane inhibitor of reactive lysis; MGC2354; MIC11; MIN1; MIN2; MIN3; MIRL; MSK21; OTTHUMP00000232408; OTTHUMP00000232409; OTTHUMP00000232410; OTTHUMP00000232411; OTTHUMP00000232412; OTTHUMP00000232413; OTTHUMP00000232414; OTTHUMP00000232415; OTTHUMP00000232416; OTTHUMP00000232608; OTTHUMP00000232610; p18-20; protectin; surface anitgen recognized by monoclonal antibody 16.3A5; T cell-activating protein
Orthologs: Mus musculus : Cd59b (CD59b antigen)  MGI
Rattus norvegicus : Cd59 (CD59 molecule, complement regulatory protein)
Latest Assembly: Human Genome Assembly GRCh37
Position:
MapChrPositionStrandSource
Human Alternate Assembly CHM1_11133,653,249 - 33,686,718-NCBI
Human Genome Assembly HuRef1133,421,201 - 33,454,193-NCBI
Human Genome Assembly GRCh371133,724,556 - 33,758,025-NCBI
Human Genome Assembly Build 361133,681,132 - 33,714,600-NCBI
Human Cytogenetic Map11p13 NCBI
Human Genome Assembly1133,681,133 - 33,714,600 NCBI
Model

Launch Genome Browser (GBrowse) : build 36 (hg18) build 37 (hg19)


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
References - curated
References - uncurated
RGD Disease Portals

Genomics

Comparative Map Data
Position Markers
QTLs in Region (Human Genome Assembly GRCh37)

Sequence

Nucleotide Sequences
Protein Sequences
Promoters

Additional Information

External Database Links
Nomenclature History
 
More on CD59
Entrez Gene
Ensembl Gene
Genome Browser: (hg18) (hg19)
HGNC Report
NCBI Map Viewer
Vista
Vista + UCSC

RGD Object Information
RGD ID: 736600
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2013-05-14
Status: ACTIVE