Entity Details

Primary name CD46
Entity type gene
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Details

PrimaryID4179
RefseqGeneNG_009296
SymbolCD46
NameCD46 molecule
Chromosome1
Location1q32.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-20
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsMCP_HUMAN

GO terms

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GOName
GO:0001618 virus receptor activity
GO:0002079 inner acrosomal membrane
GO:0002250 adaptive immune response
GO:0002456 T cell mediated immunity
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005925 focal adhesion
GO:0006958 complement activation, classical pathway
GO:0007338 single fertilization
GO:0008593 regulation of Notch signaling pathway
GO:0009986 cell surface
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0030449 regulation of complement activation
GO:0032733 positive regulation of interleukin-10 production
GO:0035581 sequestering of extracellular ligand from receptor
GO:0038023 signaling receptor activity
GO:0042102 positive regulation of T cell proliferation
GO:0043382 positive regulation of memory T cell differentiation
GO:0045087 innate immune response
GO:0045296 cadherin binding
GO:0045591 positive regulation of regulatory T cell differentiation
GO:0070062 extracellular exosome
GO:0071636 positive regulation of transforming growth factor beta production

Diseases

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Disease IDSourceNameDescription
612922 OMIMHemolytic uremic syndrome atypical 2 (AHUS2)An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. Disease susceptibility is associated with variants affecting the gene represented in this entry. Other genes may play a role in modifying the phenotype. Patients with CD46 mutations seem to have an overall better prognosis compared to patients carrying CFH mutations.