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Aliases for CD46 Gene

Aliases for CD46 Gene

  • CD46 Molecule 2 3
  • CD46 Molecule, Complement Regulatory Protein 2 3 5
  • 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
  • MCP 3 4
  • TLX 3 4
  • Trophoblast-Lymphocyte Cross-Reactive Antigen 3
  • Complement Membrane Cofactor Protein 3
  • Trophoblast Leucocyte Common Antigen 3
  • Measles Virus Receptor 3
  • CD46 Antigen 4
  • TRA2.10 3
  • AHUS2 3

External Ids for CD46 Gene

Previous HGNC Symbols for CD46 Gene

  • MIC10
  • MCP

Previous GeneCards Identifiers for CD46 Gene

  • GC01P205992
  • GC01P207925
  • GC01P178599

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) is a Protein Coding gene. Diseases associated with CD46 include hemolytic uremic syndrome, atypical 2 and cd46-related atypical hemolytic-uremic syndrome. Among its related pathways are Complement and coagulation cascades and Immune System. GO annotations related to this gene include receptor activity and enzyme inhibitor activity. An important paralog of this gene is ENSG00000276911.

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.

  • (Microbial infection) A number of viral and bacterial pathogens seem to bind MCP in order to exploit its immune regulation property and directly induce an immunosuppressive phenotype in T-cells. Acts as a receptor for adenovirus subgroup B2 and Ad3, cultured measles virus and herpesvirus 6 (PubMed:10972291, PubMed:12663806, PubMed:12724329, PubMed:12915534, PubMed:14566335, PubMed:15047806, PubMed:15078926, PubMed:15919905, PubMed:16254377). May act as a receptor for pathogenic bacteria Neisseria and Streptococcus pyogenes (PubMed:7708671, PubMed:9379894, PubMed:11260136, PubMed:11971006).

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

Regulatory Elements for CD46 Gene

Promoters for CD46 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CD46 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for CD46 Gene

Chromosome:
1
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

Genes around CD46 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD46 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD46 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD46 Gene

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 (PubMed:1717583, PubMed:3260937). Interacts with C4b (PubMed:1717583).
    • (Microbial infection) Interacts with measles virus H protein.
    • (Microbial infection) Interacts with human herpesvirus 6 GH protein (PubMed:12663806, PubMed:12724329).
    • (Microbial infection) Interacts with human adenovirus B/D fiber protein (PubMed:12915534, PubMed:14566335, PubMed:15047806, PubMed:15078926, PubMed:15919905, PubMed:16254377).
    • (Microbial infection) Binds to Streptococcus pyogenes M protein and to type IV pili from Neisseria (PubMed:7708671, PubMed:9379894, PubMed:11260136, PubMed:11971006).

    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.
  • Ubiquitination at Lys 377 and Lys 390
  • Glycosylation at Asn 83, Asn 114, Thr 163, Asn 273, Ser 290, Ser 291, Thr 292, Ser 298, Ser 300, Ser 302, Thr 303, Ser 304, Ser 305, Thr 306, Thr 307, Ser 309, Ser 312, Ser 313, Ser 315, Thr 320, and Ser 326
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CD46 (CD46)

No data available for DME Specific Peptides for CD46 Gene

Domains & Families for CD46 Gene

Protein Domains for CD46 Gene

Suggested Antigen Peptide Sequences for CD46 Gene

Graphical View of Domain Structure for InterPro Entry

P15529

UniProtKB/Swiss-Prot:

MCP_HUMAN :
  • 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.
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.
  • Contains 4 Sushi (CCP/SCR) domains.
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.
UniProtKB/Swiss-Prot Function:
(Microbial infection) A number of viral and bacterial pathogens seem to bind MCP in order to exploit its immune regulation property and directly induce an immunosuppressive phenotype in T-cells. Acts as a receptor for adenovirus subgroup B2 and Ad3, cultured measles virus and herpesvirus 6 (PubMed:10972291, PubMed:12663806, PubMed:12724329, PubMed:12915534, PubMed:14566335, PubMed:15047806, PubMed:15078926, PubMed:15919905, PubMed:16254377). May act as a receptor for pathogenic bacteria Neisseria and Streptococcus pyogenes (PubMed:7708671, PubMed:9379894, PubMed:11260136, PubMed:11971006).

Gene Ontology (GO) - Molecular Function for CD46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23086448
genes like me logo Genes that share ontologies with CD46: view
genes like me logo Genes that share phenotypes with CD46: view

Human Phenotype Ontology for CD46 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CD46 Gene

MGI Knock Outs for CD46:

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
extracellular 5
plasma membrane 5
golgi apparatus 2
endoplasmic reticulum 1
endosome 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CD46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009986 cell surface IEA,IDA 23086448
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with CD46: view

Pathways & Interactions for CD46 Gene

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

Pathways by source 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:0010629 negative regulation of gene expression IDA 23086448
genes like me logo Genes that share ontologies with CD46: view

No data available for SIGNOR curated interactions for CD46 Gene

Drugs & Compounds for CD46 Gene

(13) Drugs for CD46 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(14) Additional Compounds for CD46 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

Protein differential expression in normal tissues from HIPED for CD46 Gene

This gene is overexpressed in Adrenal (13.8), Heart (12.1), Liver (7.9), and Cerebral cortex (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CD46: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for CD46 Gene

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 (a)
OneToOne
CD46 35
  • 99.22 (n)
  • 98.7 (a)
cow
(Bos Taurus)
Mammalia CD46 35
  • 64.86 (n)
  • 45.65 (a)
-- 36
  • 44 (a)
OneToMany
-- 36
  • 35 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 45 (a)
OneToMany
-- 36
  • 36 (a)
OneToMany
LOC102156626 35
  • 66.36 (n)
  • 49.7 (a)
mouse
(Mus musculus)
Mammalia Cd46 16
Cd46 36
  • 48 (a)
OneToOne
Cd46 35
  • 68.68 (n)
  • 53.5 (a)
oppossum
(Monodelphis domestica)
Mammalia CD46 36
  • 26 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CD46 36
  • 28 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cd46 35
  • 69.52 (n)
  • 53.57 (a)
chicken
(Gallus gallus)
Aves CR1L 36
  • 21 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 6 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii rca2.1 36
  • 20 (a)
ManyToMany
rca2.2 36
  • 22 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

(1) 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
VAR_022262 -
VAR_022263 -
VAR_022264 -
VAR_022265 -
rs138843816 - 207,752,250(+) TCCTT(C/T)CTGGC reference, missense

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

Variant ID Type Subtype PubMed ID
esv2665810 CNV Deletion 23128226

Variation tolerance for CD46 Gene

Residual Variation Intolerance Score: 38.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.50; 29.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CD46 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CD46 Gene

Disorders for CD46 Gene

MalaCards: The human disease database

(15) MalaCards diseases for CD46 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hemolytic uremic syndrome, atypical 2
  • hemolytic uremic syndrome, atypical, susceptibility to, 2
cd46-related atypical hemolytic-uremic syndrome
measles
  • morbilli
hemolytic-uremic syndrome
  • haemolytic-uraemic syndrome
subacute sclerosing panencephalitis
  • immunosuppressive measles encephalitis
- elite association - COSMIC cancer census association via MalaCards
Search CD46 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for CD46

Genetic Association Database (GAD)
CD46
Human Genome Epidemiology (HuGE) Navigator
CD46
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CD46
genes like me logo Genes that share disorders with CD46: view

No data available for Genatlas for CD46 Gene

Publications for CD46 Gene

  1. Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. (PMID: 20513133) Maga T.K. … Smith R.J.H. (Hum. Mutat. 2010) 3 4 48 67
  2. Restriction analysis of otosclerosis-associated CD46 splicing variants. (PMID: 19597833) Csomor P. … Karosi T. (Eur Arch Otorhinolaryngol 2010) 3 23
  3. Disease-associated novel CD46 splicing variants and pathologic bone remodeling in otosclerosis. (PMID: 18677279) Karosi T. … Sziklai I. (Laryngoscope 2008) 3 23
  4. Membrane cofactor protein (MCP, CD46) binding to clinical isolates of Streptococcus pyogenes: binding to M type 18 strains is independent of Emm or Enn proteins. (PMID: 17467801) Feito M.J. … Rojo J.M. (Mol. Immunol. 2007) 3 23
  5. Maternal CD46H*2 and IL1B-511*1 homozygosity in T helper 1-type immunity to trophoblast antigens in recurrent pregnancy loss. (PMID: 16253969) Wang Z.C. … Anderson D.J. (Hum. Reprod. 2006) 3 23

Products for CD46 Gene

Sources for CD46 Gene

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