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Aliases for CD46 Gene

Aliases for CD46 Gene

  • CD46 Molecule, Complement Regulatory Protein 2 3
  • MCP 3 4 6
  • Membrane Cofactor Protein (CD46, Trophoblast-Lymphocyte Cross-Reactive Antigen) 2 3
  • Antigen Identified By Monoclonal Antibody TRA-2-10 2 3
  • CD46 Antigen, Complement Regulatory Protein 2 3
  • Trophoblast Leukocyte Common Antigen 3 4
  • MIC10 3 4
  • AHUS2 3 6
  • TLX 3 4
  • Trophoblast-Lymphocyte Cross-Reactive Antigen 3
  • Complement Membrane Cofactor Protein 3
  • Trophoblast Leucocyte Common Antigen 3
  • Membrane Cofactor Protein 3
  • Measles Virus Receptor 3
  • CD46 Antigen 4
  • TRA2.10 3

External Ids for CD46 Gene

Previous Symbols for CD46 Gene

  • MIC10
  • MCP

Summaries for CD46 Gene

Entrez Gene Summary for CD46 Gene

  • 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 cell from damage by complement. In addition, the encoded protein can act as a receptor for the Edmonston strain of measles virus, human herpesvirus-6, and type IV pili of pathogenic Neisseria. Finally, the protein encoded by this gene may be involved in the fusion of the spermatozoa with the oocyte during fertilization. Mutations at this locus have been associated with susceptibility to hemolytic uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]

GeneCards Summary for CD46 Gene

CD46 (CD46 Molecule, Complement Regulatory Protein) is a Protein Coding gene. Diseases associated with CD46 include hemolytic uremic syndrome, atypical 2 and measles. Among its related pathways are Complement and coagulation cascades and Complement and coagulation cascades. GO annotations related to this gene include receptor activity and complement binding. An important paralog of this gene is CSMD3.

UniProtKB/Swiss-Prot for CD46 Gene

  • Acts as a cofactor for complement factor I, a serine protease which protects autologous cells against complement-mediated injury by cleaving C3b and C4b deposited on host tissue. May be involved in the fusion of the spermatozoa with the oocyte during fertilization. Also acts as a costimulatory factor for T-cells which induces the differentiation of CD4+ into T-regulatory 1 cells. T-regulatory 1 cells suppress immune responses by secreting interleukin-10, and therefore are thought to prevent autoimmunity. A number of viral and bacterial pathogens seem to exploit this property and directly induce an immunosuppressive phenotype in T-cells by binding to CD46.

Gene Wiki entry for CD46 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD46 Gene

Genomics for CD46 Gene

Genomic Location for CD46 Gene

Start:
207,752,038 bp from pter
End:
207,795,516 bp from pter
Size:
43,479 bases
Orientation:
Plus strand

Genomic View for CD46 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CD46 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD46 Gene

Regulatory Elements for CD46 Gene

Transcription factor binding sites by QIAGEN in the CD46 gene promoter:

Proteins for CD46 Gene

  • Protein details for CD46 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15529-MCP_HUMAN
    Recommended name:
    Membrane cofactor protein
    Protein Accession:
    P15529
    Secondary Accessions:
    • A0T1T0
    • A0T1T1
    • A0T1T2
    • Q15429
    • Q53GV9
    • Q5HY94
    • Q5VWS6
    • Q5VWS7
    • Q5VWS8
    • Q5VWS9
    • Q5VWT0
    • Q5VWT1
    • Q5VWT2
    • Q6N0A1
    • Q7Z3R5
    • Q9NNW2
    • Q9NNW3
    • Q9NNW4
    • Q9UCJ4

    Protein attributes for CD46 Gene

    Size:
    392 amino acids
    Molecular mass:
    43747 Da
    Quaternary structure:
    • Interacts with C3b and C4b. Binds to Measles virus H protein, to Human herpesvirus 6 GH protein and to human adenovirus B/D PIV/fiber protein, and acts as a receptor for these viruses. Binds to Streptococcus pyogenes M protein and to type IV pili from Neisseria, and may act as a receptor for these pathogenic bacteria.

    Three dimensional structures from OCA and Proteopedia for CD46 Gene

neXtProt entry for CD46 Gene

Proteomics data for CD46 Gene at MOPED

Post-translational modifications for CD46 Gene

  • Extensively O-glycosylated in the Ser/Thr-rich domain. O-glycosylation is required for Neisseria binding but not for Measles virus or human adenovirus binding
  • In epithelial cells, isoforms B/D/F/H/J/L/3 are phosphorylated by YES1 in response to infection by Neisseria gonorrhoeae; which promotes infectivity. In T-cells, these isoforms may be phosphorylated by LCK
  • N-glycosylated on Asn-83; Asn-114 and Asn-273 in most tissues, but probably less N-glycosylated in testis. N-glycosylation on Asn-114 and Asn-273 is required for cytoprotective function. N-glycosylation on Asn-114 is required for Measles virus binding. N-glycosylation on Asn-273 is required for Neisseria binding. N-glycosylation is not required for human adenovirus binding
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys377 and Lys390
  • Glycosylation at Asn83, Asn114, Thr163, Asn273, Ser290, Ser291, Thr292, Ser298, Ser300, Ser302, Thr303, Ser304, Ser305, Thr306, Thr307, Ser309, Ser312, Ser313, Ser315, Thr320, and Ser326

No data available for DME Specific Peptides for CD46 Gene

Domains for CD46 Gene

Gene Families for CD46 Gene

HGNC:

Protein Domains for CD46 Gene

UniProtKB/Swiss-Prot:

MCP_HUMAN
Domain:
  • Sushi domains 1 and 2 are required for interaction with human adenovirus B PIV/FIBER protein and with Measles virus H protein. Sushi domains 2 and 3 are required for Herpesvirus 6 binding. Sushi domain 3 is required for Neisseria binding. Sushi domains 3 and 4 are required for interaction with Streptococcus pyogenes M protein and are the most important for interaction with C3b and C4b:
    • P15529
  • Contains 4 Sushi (CCP/SCR) domains.:
    • P15529
genes like me logo Genes that share domains with CD46: view

Function for CD46 Gene

Molecular function for CD46 Gene

UniProtKB/Swiss-Prot Function: Acts as a cofactor for complement factor I, a serine protease which protects autologous cells against complement-mediated injury by cleaving C3b and C4b deposited on host tissue. May be involved in the fusion of the spermatozoa with the oocyte during fertilization. Also acts as a costimulatory factor for T-cells which induces the differentiation of CD4+ into T-regulatory 1 cells. T-regulatory 1 cells suppress immune responses by secreting interleukin-10, and therefore are thought to prevent autoimmunity. A number of viral and bacterial pathogens seem to exploit this property and directly induce an immunosuppressive phenotype in T-cells by binding to CD46.

Gene Ontology (GO) - Molecular Function for CD46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001848 complement binding IEA --
GO:0004175 endopeptidase activity IEA --
GO:0004857 enzyme inhibitor activity IEA --
GO:0004872 receptor activity TAS 8402913
GO:0005515 protein binding IPI 23086448
genes like me logo Genes that share ontologies with CD46: view

Phenotypes for CD46 Gene

MGI mutant phenotypes for CD46:
inferred from 1 alleles
GenomeRNAi human phenotypes for CD46:
genes like me logo Genes that share phenotypes with CD46: view

Animal Models for CD46 Gene

MGI Knock Outs for CD46:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for CD46 Gene

Localization for CD46 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD46 Gene

Cytoplasmic vesicle, secretory vesicle, acrosome inner membrane; Single-pass type I membrane protein. Note=Inner acrosomal membrane of spermatozoa. Internalized upon binding of Measles virus, Herpesvirus 6 or Neisseria gonorrhoeae, which results in an increased susceptibility of infected cells to complement-mediated injury. In cancer cells or cells infected by Neisseria, shedding leads to a soluble peptide.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CD46 Gene COMPARTMENTS Subcellular localization image for CD46 gene
Compartment Confidence
plasma membrane 4
extracellular 2
golgi apparatus 2
endoplasmic reticulum 1
endosome 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CD46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle --
GO:0002079 inner acrosomal membrane IEA --
GO:0005737 cytoplasm --
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with CD46: view

Pathways for CD46 Gene

genes like me logo Genes that share pathways with CD46: view

Pathways by source for CD46 Gene

1 Sino Biological pathway for CD46 Gene
1 Cell Signaling Technology pathway for CD46 Gene
1 BioSystems pathway for CD46 Gene
2 Reactome pathways for CD46 Gene
2 KEGG pathways for CD46 Gene

Gene Ontology (GO) - Biological Process for CD46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IC 12540904
GO:0002456 T cell mediated immunity IMP 23086448
GO:0006508 proteolysis IEA --
GO:0006958 complement activation, classical pathway IEA --
GO:0007338 single fertilization IEA --
genes like me logo Genes that share ontologies with CD46: view

Compounds for CD46 Gene

(1) Drugbank Compounds for CD46 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Alpha-D-Mannose
3458-28-4 target

(27) Novoseek inferred chemical compound relationships for CD46 Gene

Compound -log(P) Hits PubMed IDs
ad 11 82.7 8
hmcp 79.7 3
penton 52.1 1
serine 34.5 14
lactosylceramide 24.4 1
genes like me logo Genes that share compounds with CD46: view

Transcripts for CD46 Gene

Unigene Clusters for CD46 Gene

CD46 molecule, complement regulatory protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CD46 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b · 15c · 15d · 15e ·
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - - -
SP4: - - - - - - -
SP5: - - - - - - - -
SP6: - - - -
SP7: - -
SP8: - -
SP9: - -

ExUns: 15f
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for CD46 Gene

GeneLoc Exon Structure for
CD46
ECgene alternative splicing isoforms for
CD46

Expression for CD46 Gene

mRNA expression in normal human tissues for CD46 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CD46 Gene

SOURCE GeneReport for Unigene cluster for CD46 Gene Hs.510402

mRNA Expression by UniProt/SwissProt for CD46 Gene

P15529-MCP_HUMAN
Tissue specificity: Expressed by all cells except erythrocytes
genes like me logo Genes that share expressions with CD46: view

Orthologs for CD46 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CD46 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CD46 36
  • 99.22 (n)
  • 98.7 (a)
CD46 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 37
  • 44 (a)
OneToMany
-- 37
  • 35 (a)
OneToMany
CD46 36
  • 64.86 (n)
  • 45.65 (a)
dog
(Canis familiaris)
Mammalia -- 37
  • 45 (a)
OneToMany
-- 37
  • 36 (a)
OneToMany
LOC102156626 36
  • 66.36 (n)
  • 49.7 (a)
mouse
(Mus musculus)
Mammalia Cd46 36
  • 68.68 (n)
  • 53.5 (a)
Cd46 16
Cd46 37
  • 48 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CD46 37
  • 26 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CD46 37
  • 28 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cd46 36
  • 69.52 (n)
  • 53.57 (a)
chicken
(Gallus gallus)
Aves CR1L 37
  • 21 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 6 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii rca2.1 37
  • 20 (a)
ManyToMany
rca2.2 37
  • 22 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 6 (a)
OneToMany
Species with no ortholog for CD46:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CD46 Gene

ENSEMBL:
Gene Tree for CD46 (if available)
TreeFam:
Gene Tree for CD46 (if available)

Paralogs for CD46 Gene

Paralogs for CD46 Gene

Selected SIMAP similar genes for CD46 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for CD46 Gene

genes like me logo Genes that share paralogs with CD46: view

Variants for CD46 Gene

Sequence variations from dbSNP and Humsavar for CD46 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1237 -- 207,795,352(-) CATTT(A/C)AACAA utr-variant-3-prime
rs7144 -- 207,794,374(+) CTTGT(C/T)GTTTT utr-variant-3-prime
rs12556 -- 207,794,271(+) TATCA(G/T)TAATT utr-variant-3-prime
rs14374 -- 207,794,912(+) AGATA(C/T)GATTG utr-variant-3-prime
rs859705 -- 207,786,320(+) GATCT(A/G)TAAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CD46 Gene

Variant ID Type Subtype PubMed ID
esv2665810 CNV Deletion 23128226

Relevant External Links for CD46 Gene

HapMap Linkage Disequilibrium report
CD46
Human Gene Mutation Database (HGMD)
CD46

Disorders for CD46 Gene

(1) OMIM Diseases for CD46 Gene (120920)

UniProtKB/Swiss-Prot

MCP_HUMAN
  • Hemolytic uremic syndrome atypical 2 (AHUS2) [MIM:612922]: 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. {ECO:0000269 PubMed:16386793, ECO:0000269 PubMed:16621965, ECO:0000269 PubMed:20513133}. Note=Disease susceptibility is associated with variations 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.

(91) Novoseek inferred disease relationships for CD46 Gene

Disease -log(P) Hits PubMed IDs
measles 85.6 147
uremic syndrome 82.3 23
subacute sclerosing panencephalitis 67.8 7
purpura thrombotic thrombocytopenic 58.8 3
arthus reaction 54.5 1

Relevant External Links for CD46

GeneTests
CD46
GeneReviews
CD46
Genetic Association Database (GAD)
CD46
Human Genome Epidemiology (HuGE) Navigator
CD46
genes like me logo Genes that share disorders with CD46: view

Publications for CD46 Gene

  1. Membrane cofactor protein of the complement system: alternative splicing of serine/threonine/proline-rich exons and cytoplasmic tails produces multiple isoforms that correlate with protein phenotype. (PMID: 1711570) Post T.W. … Atkinson J.P. (J. Exp. Med. 1991) 3 4 23
  2. Contribution of the repeating domains of membrane cofactor protein (CD46) of the complement system to ligand binding and cofactor activity. (PMID: 1717583) Adams E.M. … Atkinson J.P. (J. Immunol. 1991) 3 4 23
  3. Human non-lineage antigen, CD46 (HuLy-m5): purification and partial sequencing demonstrates structural homology with complement-regulating glycoproteins. (PMID: 2298462) Purcell D.F. … McKenzie I.F. (Immunogenetics 1990) 3 4 23
  4. Measles virus and C3 binding sites are distinct on membrane cofactor protein (CD46). (PMID: 7534417) Manchester M. … Oldstone M.B. (Proc. Natl. Acad. Sci. U.S.A. 1995) 3 4 23
  5. Membrane cofactor protein (CD46) is a keratinocyte receptor for the M protein of the group A streptococcus. (PMID: 7708671) Okada N. … Caparon M. (Proc. Natl. Acad. Sci. U.S.A. 1995) 3 4 23

Products for CD46 Gene

Sources for CD46 Gene

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