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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CD46 Gene

protein-coding   GIFtS: 66
GCID: GC01P207925

CD46 Molecule, Complement Regulatory Protein

(Previous names: antigen identified by monoclonal antibody TRA-2-10, membrane...)
(Previous symbols: MIC10, MCP)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
CD46 Molecule, Complement Regulatory Protein1 2     AHUS22 5
MCP1 2 3 5     TRA2.102
MIC101 2 3     Complement Membrane Cofactor Protein2
Antigen Identified By Monoclonal Antibody TRA-2-101 2     Measles Virus Receptor2
CD46 Antigen, Complement Regulatory Protein1 2     Membrane Cofactor Protein2
Membrane Cofactor Protein (CD46, Trophoblast-Lymphocyte Cross-Reactive
Antigen)1 2
     Trophoblast Leucocyte Common Antigen2
Trophoblast Leukocyte Common Antigen2 3     Trophoblast-Lymphocyte Cross-Reactive Antigen2
TLX2 3     CD46 Antigen3

External Ids:    HGNC: 69531   Entrez Gene: 41792   Ensembl: ENSG000001173357   OMIM: 1209205   UniProtKB: P155293   

Export aliases for CD46 gene to outside databases

Previous GC identifers: GC01P205992 GC01P178599


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 measles, and cd46-related atypical hemolytic-uremic syndrome, and among its related super-pathways are Immune response Lectin induced complement pathway and Complement and Coagulation Cascades. GO annotations related to this gene include complement binding and receptor activity. An important paralog of this gene is CSMD1.

UniProtKB/Swiss-Prot: MCP_HUMAN, P15529
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 Wiki entry for CD46 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_167186.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CD46 gene promoter:
         STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCD46 promoter sequence
   Search SABiosciences Chromatin IP Primers for CD46

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CD46


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q32   Ensembl cytogenetic band:  1q32.2   HGNC cytogenetic band: 1q32

CD46 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CD46 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P207925:  view genomic region     (about GC identifiers)

Start:
207,925,383 bp from pter      End:
207,968,861 bp from pter
Size:
43,479 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MCP_HUMAN, P15529 (See protein sequence)
Recommended Name: Membrane cofactor protein precursor  
Size: 392 amino acids; 43747 Da
Subunit: 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
Subcellular location: 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
6 PDB 3D structures from and Proteopedia for CD46:
1CKL (3D)        1HR4 (3D)        2O39 (3D)        3INB (3D)        3L89 (3D)        3O8E (3D)    
Secondary accessions: A0T1T0 A0T1T1 A0T1T2 Q15429 Q53GV9 Q5HY94 Q5VWS6 Q5VWS7 Q5VWS8 Q5VWS9
Q5VWT0 Q5VWT1 Q5VWT2 Q6N0A1 Q7Z3R5 Q9NNW2 Q9NNW3 Q9NNW4 Q9UCJ4
Alternative splicing: 16 isoforms:  P15529-1   P15529-2   P15529-11   P15529-3   P15529-12   P15529-4   P15529-13   P15529-5   
P15529-14   P15529-6   P15529-15   P15529-7   P15529-8   P15529-9   P15529-10   P15529-16   
(Contains a phosphotyrosine at position 321. Contains a phosphotyrosine at position 324)

Explore the universe of human proteins at neXtProt for CD46: NX_P15529

Explore proteomics data for CD46 at MOPED 

Post-translational modifications:

  • UniProtKB: 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
  • UniProtKB: 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
  • UniProtKB: 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
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P15529

  • CD46 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CD46 Protein Expression
    REFSEQ proteins (8 alternative transcripts): 
    NP_002380.3  NP_722548.1  NP_758860.1  NP_758861.1  NP_758862.1  NP_758863.1  NP_758869.1  NP_758871.1  

    ENSEMBL proteins: 
     ENSP00000350893   ENSP00000346912   ENSP00000314664   ENSP00000356009   ENSP00000356008  
     ENSP00000350346   ENSP00000313875   ENSP00000356014   ENSP00000353342   ENSP00000418471  
     ENSP00000473449   ENSP00000413543   ENSP00000354358  
    Reactome Protein details: P15529
    Human Recombinant Protein Products for CD46: 
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for CD46
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for CD46
    GenScript Custom Purified and Recombinant Proteins Services for CD46
    Novus Biologicals CD46 Proteins
    Novus Biologicals CD46 Lysates
    Sino Biological Recombinant Protein for CD46
    Sino Biological Cell Lysate for CD46 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001669acrosomal vesicle ----
    GO:0002079inner acrosomal membrane IEA--
    GO:0005737cytoplasm ----
    GO:0005794Golgi apparatus IEA--
    GO:0005886plasma membrane TAS--

    CD46 for ontologies           About GeneDecksing



    CD46 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for CD46 

    Assay Products for CD46: 
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    Browse Enzo Life Sciences for kits & assays
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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CD: CD molecules
    complement: Complement system

    2 InterPro protein domains:
     IPR000436 Sushi_SCR_CCP
     IPR017341 M_CF_CD46

    Graphical View of Domain Structure for InterPro Entry P15529

    ProtoNet protein and cluster: P15529

    1 Blocks protein domain: IPB000436 Sushi domain/SCR domain/CCP module

    UniProtKB/Swiss-Prot: MCP_HUMAN, P15529
    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
    Similarity: Contains 4 Sushi (CCP/SCR) domains


    CD46 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MCP_HUMAN, P15529
    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): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001848complement binding IEA--
    GO:0004872receptor activity TAS8402913
         
    CD46 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CD46:
     Increased S DNA content 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Cd46):
     reproductive system 

    CD46 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cd46tm1Osb for CD46

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CD46 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CD46

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CD46 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CD46 

    miRNA
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    hsa-miR-141* hsa-miR-9 hsa-miR-328 hsa-miR-186
    SwitchGear 3'UTR luciferase reporter plasmidCD46 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 8): CD46 (NM_002389)
    Sino Biological Human cDNA Clone for CD46
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CD46
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD46


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CD46 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Immune response Lectin induced complement pathway
    Immune response Lectin induced complement pathway0.56
    Immune response Classic complement pathway0.53
    Immune response Alternative complement pathway0.56
    Immune response Classical complement pathway0.52
    Immune response Lectin Induced complement pathway0.56
    Regulation of Complement cascade0.50
    2Complement and coagulation cascades
    Complement and Coagulation Cascades0.71
    Complement and coagulation cascades0.71
    3Immune System
    Immune System0.56
    Innate Immune System0.50
    4Classical antibody-mediated complement activation
    Complement cascade0.76
    5Influenza A
    Measles0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for CD46
        Immune response Alternative complement pathway
    Immune response Classic complement pathway
    Immune response Lectin Induced complement pathway


    1 Cell Signaling Technology (CST) Pathway for CD46
        Lymphocyte Signaling

    3 GeneGo (Thomson Reuters) Pathways for CD46
        Immune response Alternative complement pathway
    Immune response Classical complement pathway
    Immune response Lectin induced complement pathway

    1 BioSystems Pathway for CD46
        Complement and Coagulation Cascades

    1 Sino Biological Pathway for CD46 
        Complement Activation Pathways

    4        Reactome Pathways for CD46
        Regulation of Complement cascade
    Complement cascade
    Immune System
    Innate Immune System


    2         Kegg Pathways  (Kegg details for CD46):
        Complement and coagulation cascades
    Measles


    CD46 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CD46

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/28 Interacting proteins for CD46 (P155292, 3 ENSP000003138754) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C3P010243, ENSP000002459074I2D: score=2 STRING: ENSP00000245907
    TSPAN4O148173, ENSP000003243044I2D: score=2 STRING: ENSP00000324304
    CD151P485093, ENSP000003241014I2D: score=1 STRING: ENSP00000324101
    CD82P277013, ENSP000002271554I2D: score=1 STRING: ENSP00000227155
    ITGA2P173013, ENSP000002965854I2D: score=1 STRING: ENSP00000296585
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    GO:0006958complement activation, classical pathway IEA--
    GO:0007338single fertilization IEA--
    GO:0019048modulation by virus of host morphology or physiology IEA--
    GO:0030449regulation of complement activation TAS--

    CD46 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CD46 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CD46 (MCP)

    1 DrugBank Compound for CD46    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Alpha-D-Mannose-- 3458-28-4target----

    10/27 Novoseek inferred chemical compound relationships for CD46 gene (see all 27)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ad 11 82.7 9 12915534 (2), 15078926 (1), 16142339 (1), 15795294 (1) (see all 7)
    hmcp 79.7 3 11477359 (1), 16324389 (1), 18976220 (1)
    penton 52.1 1 16114109 (1)
    serine 34.5 21 8418811 (2), 7811693 (2), 1711570 (1), 8077916 (1) (see all 12)
    lactosylceramide 24.4 1 1825464 (1)
    slex 20.2 1 10769630 (1)
    rantes 14.6 6 10502563 (5), 19323903 (1)
    threonine 14.2 8 8418811 (1), 1711570 (1), 8077916 (1), 7998929 (1) (see all 5)
    hind iii 13.6 2 16253969 (1), 8388398 (1)
    mannose 7.47 2 9659228 (1), 12544886 (1)

    Search CenterWatch for drugs/clinical trials and news about CD46 / MCP

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CD46 gene (14 alternative transcripts): 
    NM_002389.4  NM_153826.3  NM_172350.2  NM_172351.2  NM_172352.2  NM_172353.2  NM_172359.2  NM_172361.2  
    NM_172354.1  NM_172355.1  NM_172356.1  NM_172357.1  NM_172358.1  NM_172360.1  

    Unigene Cluster for CD46:

    CD46 molecule, complement regulatory protein
    Hs.510402  [show with all ESTs]
    Unigene Representative Sequence: NM_002389
    18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000358170(uc001hgc.3) ENST00000354848(uc001hgm.3) ENST00000322918(uc001hgg.3)
    ENST00000367042(uc001hgi.3) ENST00000367041(uc001hgl.3) ENST00000357714(uc001hgp.3 uc001hgh.3)
    ENST00000322875(uc001hgj.3) ENST00000367047 ENST00000493796 ENST00000469535
    ENST00000360212 ENST00000480003 ENST00000464082 ENST00000496723 ENST00000488596
    ENST00000490278 ENST00000471987 ENST00000462968
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF209712.1 AF209713.1 AF209714.1 AK129560.1 AK222822.1 AK291227.1 AK296819.1 BC007046.1 
    BC026273.1 BC030594.2 BX640613.1 BX649050.1 D84105.1 EF076055.1 EF076056.1 EF076057.1 
    EF076058.1 M58050.1 S51940.1 X59405.1 X59406.1 X59407.1 X59408.1 X59409.1 
    X59410.1 Y00651.1 Y07713.1 

    24/39 DOTS entries (see all 39):

    DT.100844576  DT.450315  DT.100887072  DT.100887052  DT.75168408  DT.100887062  DT.95101671  DT.95101720 
    DT.100887046  DT.100038752  DT.92462581  DT.121358981  DT.100887071  DT.100887047  DT.95101719  DT.100887053 
    DT.121358886  DT.92462596  DT.100038761  DT.121358933  DT.121359012  DT.100887064  DT.100669253  DT.100887069 

    24/871 AceView cDNA sequences (see all 871):

    Y00651 AI565591 CB124547 BU077854 BX951009 BG617197 AI361077 BG572541 
    BM263934 X59410 BX493372 X59405 BM765679 CA397301 NM_172356 BI759749 
    BQ631214 AU131238 CA413477 BX486210 N23305 H08122 BM021829 BM054895 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for CD46 (see all 9)    About this scheme

    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:                                                  -     -     -     -     -     -           -                             -                                 

    ExUns: 15f
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for CD46

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CD46 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTTCAAGA
    CD46 Expression
    About this image


    See CD46 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CD46

    SOURCE GeneReport for Unigene cluster: Hs.510402

    UniProtKB/Swiss-Prot: MCP_HUMAN, P15529
    Tissue specificity: Expressed by all cells except erythrocytes

        SABiosciences Custom PCR Arrays for CD46
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD46

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CD46 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cd461 , 5 CD46 antigen, complement regulatory protein1, 5 66.96(n)1
    51.46(a)1
      1 (98.41 cM)5
    172211  NM_010778.31  NP_034908.11 
     1950412855 
    chicken
    (Gallus gallus)
    Aves C4BPA6
    complement component 4 binding protein, alpha chai...
    22(a)
    1 → many
    26(2627129-2639856)
    zebrafish
    (Danio rerio)
    Actinopterygii rca2.26
    rca2.16
    (see all 3)
    regulator of complement activation group 2 gene 1
    (see all 3)
    21(a)
    19(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    23(26413284-26415932)
    23(26381820-26407620)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG90956
    --
    6(a)
    1 → many
    X(15033962-15057255)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CD46 gene
    CSMD12  CFHR52  F13B2  CFHR42  CFHR22  CD552  SELP2  CR22  
    C4BPA2  CFH2  CR1L2  CSMD32  CSMD22  SELE2  APOH2  CR12  
    CFHR32  CFHR12  
    1 SIMAP similar gene for CD46 using alignment to 3 protein entries:     MCP_HUMAN (see all proteins):
    CR1L

    CD46 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CD46
    PGOHUM00000245188


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/914 SNPs in CD46 are shown (see all 914)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0265704
    Hemolytic uremic syndrome atypical 2 (AHUS2)4--see VAR_0265702 S P mis40--------
    VAR_0636574
    Hemolytic uremic syndrome atypical 2 (AHUS2)4--see VAR_0636572 W C mis40--------
    VAR_0636584
    Hemolytic uremic syndrome atypical 2 (AHUS2)4--see VAR_0636582 P R mis40--------
    VAR_0265694
    Hemolytic uremic syndrome atypical 2 (AHUS2)4--see VAR_0265692 P S mis40--------
    VAR_0636564
    Hemolytic uremic syndrome atypical 2 (AHUS2)4--see VAR_0636562 C Y mis40--------
    VAR_0358284
    A colorectal cancer sample4--see VAR_0358282 C Y mis40--------
    VAR_0222654
    ----see VAR_0222652 V G mis40--------
    VAR_0265684
    ----see VAR_0265682 R Q mis40--------
    rs57804001,2
    C--207928201(+) TTTTTT/-CTTTT 8 -- int1 trp32Minor allele frequency- -:0.00NA CSA 4
    rs57804021,2
    C--207928299(+) CATGT-/A/AA  
            
    AAAAA
    8 -- int1 trp33NA CSA 6

    HapMap Linkage Disequilibrium report for CD46 (207925383 - 207968861 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CD46:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2665810CNV Deletion23128226


    Human Gene Mutation Database (HGMD): CD46
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CD46
    DNA2.0 Custom Variant and Variant Library Synthesis for CD46

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 120920   
    OMIM disorders: 612922  
    UniProtKB/Swiss-Prot: MCP_HUMAN, P15529
  • 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. 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

  • 20/92 diseases for CD46 (see all 92):    About MalaCards
    measles    cd46-related atypical hemolytic-uremic syndrome    subacute sclerosing panencephalitis    c3 glomerulonephritis
    necrotizing fasciitis    arthus reaction    exanthema subitum    shipyard eye
    gonorrhea    hemolytic-uremic syndrome    atypical hemolytic-uremic syndrome    central nervous system disease
    fasciitis    nervous system disease    afibrinogenemia    purpura
    thrombotic thrombocytopenic purpura    stomatitis    otosclerosis    mumps

    5 diseases from the University of Copenhagen DISEASES database for CD46:
    hemolytic-uremic syndrome     Measles     Subacute sclerosing panencephalitis     Thrombotic thrombocytopenic purpura
    Thrombocytopenia

    CD46 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    10/91 Novoseek inferred disease relationships for CD46 gene (see all 91)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    measles 85.6 201 8083969 (7), 9079815 (4), 11287589 (3), 8402913 (3) (see all 97)
    uremic syndrome 82.3 32 17027083 (1), 17599974 (1), 18423815 (1), 19459807 (1) (see all 23)
    subacute sclerosing panencephalitis 67.8 8 9386776 (2), 11950898 (2), 10751138 (2), 7732009 (1)
    purpura thrombotic thrombocytopenic 58.8 4 19459807 (1), 16762990 (1), 18557729 (1)
    arthus reaction 54.5 1 16038633 (1)
    afibrinogenemia 48.2 2 16387683 (1)
    distemper canine 41.7 3 7745681 (1), 9811778 (1)
    epidemic keratoconjunctivitis 41.4 1 15047806 (1)
    glomerulonephritis membranoproliferative 36.4 1 8398646 (1)
    peste des petits ruminants 33.9 2 9811778 (1)

    GeneTests: CD46
    GeneReviews: CD46
    Genetic Association Database (GAD): CD46
    Human Genome Epidemiology (HuGE) Navigator: CD46 (18 documents)

    Export disorders for CD46 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CD46 gene, integrated from 9 sources (see all 612):
    (articles sorted by number of sources associating them with CD46)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. (PubMed id 20513133)1, 2, 4, 9 Maga T.K....Smith R.J. (2010)
    2. Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. (PubMed id 16621965)1, 2, 4, 9 Caprioli J....Remuzzi G. (2006)
    3. Membrane cofactor protein (MCP; CD46): isoform-specific tyrosine phosphorylation. (PubMed id 10657632)1, 2, 9 Wang G.... Atkinson J.P. (2000)
    4. Alternatively spliced RNAs encode several isoforms of CD46 (MCP), a regulator of complement activation. (PubMed id 2050389)1, 2, 9 Purcell D.F....McKenzie I.F. (1991)
    5. Measles virus and C3 binding sites are distinct on membrane cofactor protein (CD46). (PubMed id 7534417)1, 2, 9 Manchester M.... Oldstone M.B. (1995)
    6. Membrane cofactor protein (MCP or CD46) is a cellular pilus receptor for pathogenic Neisseria. (PubMed id 9379894)1, 2, 9 Kaellstroem H.... Jonsson A.-B. (1997)
    7. 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. (PubMed id 15307194)1, 2, 9 Hakulinen J.... Meri S. (2004)
    8. Identification of the streptococcal M protein binding site on membrane cofactor protein (CD46). (PubMed id 11971006)1, 2, 9 Giannakis E....Gordon D.L. (2002)
    9. Localization of regions in CD46 that interact with adenovirus. (PubMed id 15919905)1, 2, 9 Gaggar A....Lieber A. (2005)
    10. Down-regulation of CD46 by piliated Neisseria gonorrhoeae. (PubMed id 14597734)1, 2, 9 Gill D.B.... Atkinson J.P. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4179 HGNC: 6953 AceView: MCP Ensembl:ENSG00000117335 euGenes: HUgn4179
    ECgene: CD46 Kegg: 4179 H-InvDB: CD46

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CD46 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CD46
    SeattleSNPshttp://pga.gs.washington.edu/data/mcp/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CD46 gene:
    Search GeneIP for patents involving CD46

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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