• Gene id: 4179

Gene Summary

• Gene Symbol: CD46   Gene   UCSC   Ensembl
• Aliases: AHUS2, MCP, MIC10, TLX, TRA2.10
• Gene name: CD46 molecule
• Alternate names: membrane cofactor protein, CD46 antigen, complement regulatory protein, CD46 molecule, complement regulatory protein, antigen identified by monoclonal antibody TRA-2-10, complement membrane cofactor protein, measles virus receptor, membrane cofactor prote,
• Gene location: 1q32.2 (207752037: 207795515)     Exons: 14     NC_000024.10
• Gene summary(Entrez): The protein encoded by this gene is a type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cel
• OMIM: 120920

Protein Summary

• Protein general information: P15529  
  • Name: Membrane cofactor protein (TLX) (Trophoblast leukocyte common antigen) (CD antigen CD46)
  • Length: 392  
  • Mass: 43,747
• Sequence:

  MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLA
  THTICDRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIW
  SGKPPICEKVLCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKV
  VKCRFPVVENGKQISGFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVLPPSSTKPPALSHS
  VSTSSTTKSPASSASGPRPTYKPPVSNYPGYPKPEEGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKK
  GTYLTDETHREVKFTSL

• Structural information:
  • Protein Domains: Sushi (35-96)
    Sushi (97-159)
    Sushi (160-225)
    Sushi (226-285)
  • Interpro: IPR017341  IPR035976  IPR000436  
  • Prosite: PS50923
  • CDD: cd00033
  • PDB: 1CKL 1HR4 2O39 3INB 3L89 3O8E 5FO8
  • PDBsum: 1CKL 1HR4 2O39 3INB 3L89 3O8E 5FO8
  • DIP: 41232
  • STRING: ENSP00000313875
• Other Databases: GeneCards:  CD46  Malacards:  CD46

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001618	virus receptor activity	IEA	molecular function
GO:0001848	complement binding	IEA	molecular function
GO:0002079	inner acrosomal membrane	IEA	cellular component
GO:0002250	adaptive immune response	IC	biological process
GO:0002456	T cell mediated immunity	IMP	biological process
GO:0004175	endopeptidase activity	IEA	molecular function
GO:0004857	enzyme inhibitor activity	IEA	molecular function
GO:0004872	receptor activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0006958	complement activation, classical pathway	IEA	biological process
GO:0007338	single fertilization	IEA	biological process
GO:0008593	regulation of Notch signaling pathway	IDA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0010629	negative regulation of gene expression	IDA	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0030449	regulation of complement activation	TAS	biological process
GO:0032613	interleukin-10 production	IDA	biological process
GO:0032733	positive regulation of interleukin-10 production	IDA	biological process
GO:0035581	sequestering of extracellular ligand from receptor	IDA	biological process
GO:0042102	positive regulation of T cell proliferation	IDA	biological process
GO:0043086	negative regulation of catalytic activity	IEA	biological process
GO:0043382	positive regulation of memory T cell differentiation	IDA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0045296	cadherin binding	IPI	molecular function
GO:0045591	positive regulation of regulatory T cell differentiation	IDA	biological process
GO:0045916	negative regulation of complement activation	IEA	biological process
GO:0046718	viral entry into host cell	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071636	positive regulation of transforming growth factor beta production	IDA	biological process
GO:0001618	virus receptor activity	IEA	molecular function
GO:0001669	acrosomal vesicle	IEA	cellular component
GO:0001848	complement binding	IEA	molecular function
GO:0002079	inner acrosomal membrane	IEA	cellular component
GO:0002079	inner acrosomal membrane	IEA	cellular component
GO:0002250	adaptive immune response	IC	biological process
GO:0002376	immune system process	IEA	biological process
GO:0002456	T cell mediated immunity	IMP	biological process
GO:0004175	endopeptidase activity	IEA	molecular function
GO:0004857	enzyme inhibitor activity	IEA	molecular function
GO:0004872	receptor activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005886	plasma membrane	NAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0006958	complement activation, classical pathway	IEA	biological process
GO:0007338	single fertilization	IEA	biological process
GO:0008593	regulation of Notch signaling pathway	IDA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0010629	negative regulation of gene expression	IDA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0030449	regulation of complement activation	TAS	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0032613	interleukin-10 production	IDA	biological process
GO:0032733	positive regulation of interleukin-10 production	IDA	biological process
GO:0035581	sequestering of extracellular ligand from receptor	IDA	biological process
GO:0042102	positive regulation of T cell proliferation	IDA	biological process
GO:0043086	negative regulation of catalytic activity	IEA	biological process
GO:0043382	positive regulation of memory T cell differentiation	IDA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0045296	cadherin binding	IPI	molecular function
GO:0045591	positive regulation of regulatory T cell differentiation	IDA	biological process
GO:0045916	negative regulation of complement activation	IEA	biological process
GO:0046718	viral entry into host cell	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071636	positive regulation of transforming growth factor beta production	IDA	biological process
GO:0002250	adaptive immune response	IC	biological process
GO:0002456	T cell mediated immunity	IMP	biological process
GO:0004872	receptor activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	NAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0008593	regulation of Notch signaling pathway	IDA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0010629	negative regulation of gene expression	IDA	biological process
GO:0030449	regulation of complement activation	TAS	biological process
GO:0032613	interleukin-10 production	IDA	biological process
GO:0032733	positive regulation of interleukin-10 production	IDA	biological process
GO:0035581	sequestering of extracellular ligand from receptor	IDA	biological process
GO:0042102	positive regulation of T cell proliferation	IDA	biological process
GO:0043382	positive regulation of memory T cell differentiation	IDA	biological process
GO:0045296	cadherin binding	IPI	molecular function
GO:0045591	positive regulation of regulatory T cell differentiation	IDA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071636	positive regulation of transforming growth factor beta production	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04610	Complement and coagulation cascades
hsa05162	Measles

Diseases

Associated diseases	References
Cancer	GAD: 19344414
Cancer (lymphoma)	GAD: 19344414
Macular degeneration	GAD: 18842294
Hemolytic uremic syndrome	OMIM: 120920
Systemic lupus erythematosus (SLE)	GAD: 11844145
Systemic lupus erythematosus (SLE)	GAD: 11844145
Systemic lupus erythematosus (SLE)	INFBASE: 21445332
Autism	GAD: 20059470
Recurrent pregnancy loss (RPL)	GAD: 16253969
Preeclampsia	INFBASE: 21445332
Male factor infertility	MIK: 8500528
Spermatogenesis defects	MIK: 8500528
Spermatogenesis defects	MIK: 9185079
Spermatogenesis defects	MIK: 9185079
Male factor infertility	MIK: 8500528
Congenital or acquired obstruction of the vas deferens	MIK: 8897125
Abortion	GAD: 20925204
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Congenital or acquired obstruction of the vas deferens	MIK: 8897125
Spermatogenic defects	MIK: 9185079
Male infertility	MIK: 8500528
May have a role in regulating sperm acrosome reaction	MIK: 12640142
Survival of spermatozoa	MIK: 8500528
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
9185079	Male infertility, Sperm-specific abnormalities			3 infertile patients	Male infertility
8897125	Congenital or acquired obstruction of the vas deferens				Male infertility
8500528	Male sterility				Male infertility	MCP CD46
12640142	May have a role in regulating sperm acrosome reaction				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881