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Aliases for CD46 Gene

Aliases for CD46 Gene

  • CD46 Molecule 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 Molecule, Complement Regulatory Protein 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
  • Membrane Cofactor Protein 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 Measles. Among its related pathways are Innate Immune System and Creation of C4 and C2 activators. GO annotations related to this gene include receptor activity and enzyme inhibitor activity. An important paralog of this gene is C4BPA.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD46 Gene

Genomics for CD46 Gene

Regulatory Elements for CD46 Gene

Enhancers for CD46 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G207816 2.1 FANTOM5 Ensembl ENCODE dbSUPER 33.8 +70.9 70873 12.5 HDGF PKNOX1 FOXA2 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 YY1 CD46 C1orf132 CD34 CR1 PLXNA2 CR1L GC01P207829 PIR33548
GH01G207747 1.7 FANTOM5 ENCODE dbSUPER 31.7 -0.9 -903 6.8 HDGF FOXA2 PKNOX1 CREB3L1 AGO1 ARID4B SIN3A FEZF1 DMAP1 YBX1 CD46 C1orf132 CR1L GC01P207741
GH01G207846 1.9 FANTOM5 Ensembl ENCODE dbSUPER 26.9 +98.3 98259 7.0 PKNOX1 FOXA2 CREB3L1 ARNT SIN3A ZNF2 ZNF302 FOS DEK ZNF263 CD46 C1orf132 CD34 CR1L PLXNA2 CR1 GC01P207829 PIR33548
GH01G207804 1.5 Ensembl ENCODE dbSUPER 31.2 +54.9 54902 4.4 HDGF PKNOX1 ATF1 CREB3L1 ARNT TCF12 ZNF766 ELK1 GATA2 FOS CD46 GC01M207805 LOC148696
GH01G207830 1.4 Ensembl ENCODE dbSUPER 28.3 +80.4 80350 3.6 HDGF TBP PKNOX1 TBL1XR1 NFIB ZNF766 GATA2 ZNF350 RELB ETV6 CD46 CDCA4P4 CR1L GC01P207829 PIR33548 C1orf132
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CD46 on UCSC Golden Path with GeneCards custom track

Promoters for CD46 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000019184 462 2201 HDGF FOXA2 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

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

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 posLast=377377 and posLast=390390
  • Glycosylation at posLast=8383, posLast=114114, Thr163, posLast=273273, posLast=290290, Ser291, posLast=292292, posLast=298298, posLast=300300, Ser302, posLast=303303, Ser304, posLast=305305, posLast=306306, Thr307, posLast=309309, posLast=312312, Ser313, posLast=315315, Thr320, and Ser326
  • 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.
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:0001618 virus receptor activity IEA --
GO:0001848 complement binding IEA --
GO:0004175 endopeptidase activity IEA --
GO:0004857 enzyme inhibitor activity IEA --
GO:0004872 receptor activity TAS 8402913
genes like me logo Genes that share ontologies with CD46: view
genes like me logo Genes that share phenotypes with CD46: view

Animal Models for CD46 Gene

MGI Knock Outs for CD46:

Animal Model Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CD46 gene
Compartment Confidence
plasma membrane 5
extracellular 5
golgi apparatus 2
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
endosome 1

Gene Ontology (GO) - Cellular Components for CD46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0002079 inner acrosomal membrane IEA --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane TAS --
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

1 Sino Biological pathway for CD46 Gene
1 Cell Signaling Technology pathway for CD46 Gene
1 BioSystems pathway 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:0002376 immune system process IEA --
GO:0002456 T cell mediated immunity IMP 23086448
GO:0006508 proteolysis IEA --
GO:0006958 complement activation, classical pathway IEA --
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

(12) Drugs for CD46 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(15) 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:

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for CD46 Gene



NURSA nuclear receptor signaling pathways regulating expression of CD46 Gene:

CD46

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.

Evidence on tissue expression from TISSUES for CD46 Gene

  • Liver(4.8)
  • Nervous system(4.5)
  • Intestine(3.8)
  • Pancreas(3.8)
  • Blood(3.7)
  • Muscle(3.6)
  • Kidney(3.4)
  • Lung(3.4)
  • Heart(2.9)
  • Spleen(2.9)
  • Lymph node(2.7)
  • Skin(2.4)
  • Adrenal gland(2.3)
  • Bone marrow(2.3)
  • Eye(2.1)
  • Stomach(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CD46 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • lung
Abdomen:
  • kidney
  • liver
  • pancreas
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with CD46: view

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 34 35
  • 99.22 (n)
rat
(Rattus norvegicus)
Mammalia Cd46 34
  • 69.52 (n)
mouse
(Mus musculus)
Mammalia Cd46 34 16 35
  • 68.68 (n)
dog
(Canis familiaris)
Mammalia LOC102156626 34
  • 66.36 (n)
-- 35
  • 45 (a)
OneToMany
-- 35
  • 36 (a)
OneToMany
cow
(Bos Taurus)
Mammalia CD46 34
  • 64.86 (n)
-- 35
  • 44 (a)
OneToMany
-- 35
  • 35 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia CD46 35
  • 28 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CD46 35
  • 26 (a)
OneToOne
chicken
(Gallus gallus)
Aves CR1L 35
  • 21 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 6 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii rca2.2 35
  • 22 (a)
ManyToMany
rca2.1 35
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 6 (a)
OneToMany
Species where no ortholog for CD46 was found in the sources mined by GeneCards:
  • 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

(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
rs121909589 other, Hemolytic uremic syndrome atypical 2 (AHUS2) [MIM:612922] 207,767,057(+) AGATA(C/G/T)CAGGA nc-transcript-variant, reference, missense
rs121909591 other, Hemolytic uremic syndrome atypical 2 (AHUS2) [MIM:612922] 207,757,020(+) TGCCT(A/G)TGAGG nc-transcript-variant, reference, missense
rs759136081 Hemolytic uremic syndrome atypical 2 (AHUS2) [MIM:612922] 207,761,266(+) CACCA(C/T)CTCCA nc-transcript-variant, reference, missense
VAR_035828 A colorectal cancer sample
VAR_063657 Hemolytic uremic syndrome atypical 2 (AHUS2) [MIM:612922]

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

Variant ID Type Subtype PubMed ID
esv2665810 CNV deletion 23128226
esv3545689 CNV deletion 23714750
esv3588676 CNV loss 21293372
esv3891082 CNV loss 25118596
nsv549093 CNV loss 21841781

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

Human Gene Mutation Database (HGMD)
CD46
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD46

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

Disorders for CD46 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hemolytic uremic syndrome, atypical 2
  • hemolytic uremic syndrome, atypical, susceptibility to, 2
measles
  • morbilli
cd46-related atypical hemolytic-uremic syndrome
hemolytic-uremic syndrome
  • haemolytic-uraemic syndrome
panencephalitis, subacute sclerosing
  • subacute sclerosing panencephalitis
- 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:14566051, 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 46 64
  2. Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. (PMID: 16621965) Caprioli J. … Remuzzi G. (Blood 2006) 3 4 46 64
  3. Localization of regions in CD46 that interact with adenovirus. (PMID: 15919905) Gaggar A. … Lieber A. (J. Virol. 2005) 3 4 22 64
  4. Complement inhibitor membrane cofactor protein (MCP; CD46) is constitutively shed from cancer cell membranes in vesicles and converted by a metalloproteinase to a functionally active soluble form. (PMID: 15307194) Hakulinen J. … Meri S. (Eur. J. Immunol. 2004) 3 4 22 64
  5. The human membrane cofactor CD46 is a receptor for species B adenovirus serotype 3. (PMID: 15078926) Sirena D. … Hemmi S. (J. Virol. 2004) 3 4 22 64

Products for CD46 Gene

Sources for CD46 Gene

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