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... See more...

Aliases for CD46 Gene

Aliases for CD46 Gene

  • CD46 Molecule 2 3 5
  • TLX 2 3 4
  • 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
  • Membrane Cofactor Protein 3 4
  • TRA2.10 2 3
  • MIC10 3 4
  • MCP 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
  • MGC26544 2
  • AHUS2 3
  • CD46 5

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 Atypical Hemolytic Uremic Syndrome With Complement Gene Abnormality. Among its related pathways are Immune response Lectin induced complement pathway and Innate Immune System. Gene Ontology (GO) annotations related to this gene include enzyme inhibitor activity. An important paralog of this gene is C4BPA.

UniProtKB/Swiss-Prot Summary 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.
  • (Microbial infection) Acts as a receptor for Adenovirus subgroup B2 and Ad3.
  • (Microbial infection) Acts as a receptor for cultured Measles virus.
  • (Microbial infection) Acts as a receptor for Herpesvirus 6/HHV-6.
  • (Microbial infection) 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 , Rfam classification and piRNA Summary for CD46 Gene

Genomics for CD46 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CD46 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J207747 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 631.6 -0.3 -272 8.1 SP1 HNRNPL GATAD2A PRDM10 ZNF629 LEF1 IKZF1 ZNF692 POLR2A BACH1 CD46 lnc-CD34-7 CDCA4P4 MIR29B2CHG CR1L lnc-CD34-5
GH01J207816 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 44.3 +70.9 70873 12.5 SP1 HNRNPL CREB1 GATAD2A CTCF REST RFX1 LEF1 IKZF1 ZNF692 MIR29B2CHG lnc-CD46-6 CD46 CDCA4P4 CD34 CR1 PLXNA2 CR1L LOC148696 piR-40549
GH01J207860 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 23.6 +114.1 114054 11.2 HNRNPL CTCF PRDM10 RFX1 LEF1 IKZF1 BACH1 FOXA1 LARP7 ZNF143 MIR29B2CHG CD46 CD34 CD55 lnc-CD46-7 lnc-CD46-6
GH01J207804 Enhancer 1.1 ENCODE dbSUPER 31.2 +54.9 54902 4.4 PRDM10 IKZF1 JUND MTA2 PKNOX1 MTA1 ZNF740 KAT8 BRD9 DPF2 CD46 MIR29B2 LOC148696 MIR29B2CHG CD34
GH01J208230 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.4 +486.4 486397 15.1 HNRNPL GATAD2A CTCF PRDM10 ZNF629 REST TFE3 LEF1 IKZF1 JUND PLXNA2 CD46 CD55 LOC105372888 lnc-CD34-4 lnc-CD46-5 HSALNG0010150 CD34
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CD46 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CD46

Top Transcription factor binding sites by QIAGEN in the CD46 gene promoter:
  • STAT3

Genomic Locations for CD46 Gene

Genomic Locations for CD46 Gene
chr1:207,752,038-207,795,516
(GRCh38/hg38)
Size:
43,479 bases
Orientation:
Plus strand
chr1:207,925,383-207,968,861
(GRCh37/hg19)
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:3260937, PubMed:1717583). Interacts with C4b (PubMed:1717583). Interacts with moesin/MSN (PubMed:7884872).
    • (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

  • 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.
  • 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.
  • Glycosylation at Asn114, Asn83, Thr163, Asn273, Ser290, Ser291, Thr292, Ser298, Ser300, Ser302, Thr303, Ser304, Ser305, Thr306, Thr307, Ser309, Ser312, Ser313, Ser315, Thr320, and Ser326
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Antibody Products

  • Abcam antibodies for CD46

No data available for DME Specific Peptides for CD46 Gene

Domains & Families for CD46 Gene

Gene Families for CD46 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for CD46 Gene

InterPro:
Blocks:
  • Sushi domain/SCR domain/CCP module
ProtoNet:

Suggested Antigen Peptide Sequences for CD46 Gene

GenScript: Design optimal peptide antigens:
  • Trophoblast leukocyte common antigen (MCP_HUMAN)
  • Complement system membrane cofactor protein CD46 (Q06C42_HUMAN)

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.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a receptor for Adenovirus subgroup B2 and Ad3.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a receptor for cultured Measles virus.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a receptor for Herpesvirus 6/HHV-6.
UniProtKB/Swiss-Prot Function:
(Microbial infection) May act as a receptor for pathogenic bacteria Neisseria and Streptococcus pyogenes (PubMed:7708671, PubMed:9379894, PubMed:11260136, PubMed:11971006).

Phenotypes From GWAS Catalog for CD46 Gene

Gene Ontology (GO) - Molecular Function for CD46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
GO:0005515 protein binding IPI 23086448
GO:0038023 signaling receptor activity TAS 8402913
GO:0045296 cadherin 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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD46

Clone 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
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
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CD46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002079 inner acrosomal membrane IEA --
GO:0005886 plasma membrane NAS,TAS --
GO:0005887 integral component of plasma membrane TAS 1711570
GO:0005925 focal adhesion HDA 21423176
GO:0009986 cell surface IDA 23086448
genes like me logo Genes that share ontologies with CD46: view

Pathways & Interactions for CD46 Gene

PathCards logo

SuperPathways for CD46 Gene

SuperPathway Contained pathways
1 Immune response Lectin induced complement pathway
.56
.56
.55
2 Complement and coagulation cascades
3 Innate Immune System
4 NF-kappaB Signaling
5 Measles
.35
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 BioSystems pathway for CD46 Gene
2 KEGG pathways for CD46 Gene
3 GeneGo (Thomson Reuters) pathways for CD46 Gene
  • Immune response Alternative complement pathway
  • Immune response Classical complement pathway
  • Immune response Lectin induced complement pathway
1 Cell Signaling Technology pathway for CD46 Gene

SIGNOR curated interactions for CD46 Gene

Is activated by:

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:0006958 complement activation, classical pathway IEA --
GO:0007338 single fertilization IEA --
genes like me logo Genes that share ontologies with CD46: view

Drugs & Compounds for CD46 Gene

(14) Drugs for CD46 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(13) 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

mRNA/cDNA for CD46 Gene

14 REFSEQ mRNAs :
32 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD46

Clone 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

Expression for CD46 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for CD46 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.9)
  • Nervous system(4.6)
  • Pancreas(4.2)
  • Intestine(4.2)
  • Muscle(3.9)
  • Blood(3.9)
  • Kidney(3.8)
  • Lung(3.7)
  • Spleen(3.3)
  • Heart(3.3)
  • Lymph node(3.2)
  • Skin(3.1)
  • Bone marrow(3)
  • Stomach(2.8)
  • Eye(2.8)
  • Thyroid gland(2.7)
  • Adrenal gland(2.6)
  • Gall bladder(2.2)

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
Regions:
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 30 31
  • 99.22 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cd46 30
  • 69.52 (n)
Mouse
(Mus musculus)
Mammalia Cd46 30 17 31
  • 68.68 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LOC102156626 30
  • 66.36 (n)
-- 31
  • 45 (a)
OneToMany
-- 31
  • 36 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia CD46 30
  • 64.86 (n)
-- 31
  • 44 (a)
OneToMany
-- 31
  • 35 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia CD46 31
  • 28 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CD46 31
  • 26 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CR1L 31
  • 21 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 6 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii rca2.2 31
  • 22 (a)
ManyToMany
rca2.1 31
  • 20 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 6 (a)
OneToMany
Species where no ortholog for CD46 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CD46: view image

Paralogs for CD46 Gene

(1) SIMAP similar genes for CD46 Gene using alignment to 3 proteins:

  • MCP_HUMAN
  • Q06C42_HUMAN
  • R4GN18_HUMAN

Pseudogenes.org Pseudogenes for CD46 Gene

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

Variants for CD46 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CD46 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
17047 Risk Factor: Atypical hemolytic-uremic syndrome 2 207,757,013(+) G/C SPLICE_ACCEPTOR_VARIANT
635500 Pathogenic: Atypical hemolytic-uremic syndrome 2 207,759,651(+) TG/T FRAMESHIFT_VARIANT
726314 Likely Benign: not provided 207,761,295(+) C/T SYNONYMOUS_VARIANT
791827 Benign/Likely Benign: Atypical hemolytic-uremic syndrome 2; not provided 207,767,135(+) G/A MISSENSE_VARIANT
791828 Benign/Likely Benign: Atypical hemolytic-uremic syndrome 2; not provided 207,767,783(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for CD46 Gene

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)

Additional Variant Information for CD46 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CD46 Gene

MalaCards: The human disease database

(47) MalaCards diseases for CD46 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hemolytic uremic syndrome, atypical 2
  • hemolytic uremic syndrome, atypical, susceptibility to, 2
atypical hemolytic uremic syndrome with complement gene abnormality
  • ahus with complement gene abnormality
measles
  • morbilli
hemolytic-uremic syndrome
  • haemolytic-uraemic syndrome
hellp syndrome
  • hemolysis, elevated liver enzymes, lowered platelets
- 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.

Additional Disease Information for CD46

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 TK … Smith RJ (Human mutation 2010) 3 4 23 41
  2. Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. (PMID: 16621965) Caprioli J … International Registry of Recurrent and Familial HUS/TTP (Blood 2006) 3 4 23 41
  3. Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome. (PMID: 20059470) Sullivan M … Neumann HP (Annals of human genetics 2010) 3 23 41
  4. Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree. (PMID: 16386793) Esparza-Gordillo J … de Córdoba SR (Molecular immunology 2006) 3 4 23
  5. Localization of regions in CD46 that interact with adenovirus. (PMID: 15919905) Gaggar A … Lieber A (Journal of virology 2005) 3 4 23

Products for CD46 Gene