CD46 Gene
protein-coding GIFtS: 65
GCID: GC01P207925
|
|
CD46 molecule, complement regulatory protein(Previous names: antigen identified by monoclonal antibody TRA-2-10, membrane...)
(Previous symbols: MIC10, MCP)
| |
Aliases
for CD46 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| CD46 Molecule, Complement Regulatory Protein1 2 | | AHUS22 5 | | MCP1 2 3 5 | | MGC265441 | | MIC101 2 3 | | Complement Membrane Cofactor Protein2 | | TLX1 2 3 | | Measles Virus Receptor2 | | TRA2.101 2 | | Membrane Cofactor Protein2 | | Antigen Identified By Monoclonal Antibody TRA-2-101 2 | | Trophoblast Leucocyte Common Antigen2 | | CD46 Antigen, Complement Regulatory Protein1 2 | | Trophoblast-Lymphocyte Cross-Reactive Antigen2 | | Membrane Cofactor Protein (CD46, Trophoblast-Lymphocyte Cross-Reactive Antigen)1 2 | | CD46 Antigen3 | | Trophoblast Leukocyte Common Antigen2 3 | | |
Export aliases for CD46 gene to outside databasesPrevious GC identifers: GC01P205992 GC01P178599 |
Summaries
for CD46 gene(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:
The protein encoded by this gene is a type I membrane protein and is a regulatory part of the complement system. Theencoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, whichprotects the host cell from damage by complement. In addition, the encoded protein can act as a receptor for theEdmonston strain of measles virus, human herpesvirus-6, and type IV pili of pathogenic Neisseria. Finally, the proteinencoded by this gene may be involved in the fusion of the spermatozoa with the oocyte during fertilization. Mutationsat this locus have been associated with susceptibility to hemolytic uremic syndrome. Alternatively spliced transcriptvariants encoding different isoforms have been described. (provided by RefSeq, Jun 2010)
UniProtKB/Swiss-Prot: MCP_HUMAN, P15529Function: Acts as a cofactor for complement factor I, a serine protease which protects autologous cells againstcomplement-mediated injury by cleaving C3b and C4b deposited on host tissue. May be involved in the fusion of thespermatozoa with the oocyte during fertilization. Also acts as a costimulatory factor for T-cells which induces thedifferentiation of CD4+ into T-regulatory 1 cells. T-regulatory 1 cells suppress immune responses by secretinginterleukin-10, and therefore are thought to prevent autoimmunity. A number of viral and bacterial pathogens seem toexploit this property and directly induce an immunosuppressive phenotype in T-cells by binding to CD46
Gene Wiki entry for CD46
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_167186.1
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CD46 gene promoter:
STAT3
Other transcription factors
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: 1q32CD46 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 |
|
Proteins
for CD46 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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 humanadenovirus B/D PIV/fiber protein, and acts as a receptor for these viruses. Binds to Streptococcus pyogenes M proteinand 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 membraneprotein. Note=Inner acrosomal membrane of spermatozoa. Internalized upon binding of Measles virus, Herpesvirus 6 orNeisseria 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 Q5VWT0Q5VWT1 Q5VWT2 Q6N0A1 Q7Z3R5 Q9NNW2 Q9NNW3 Q9NNW4 Q9UCJ4Alternative 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
Post-translational modifications:
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 requiredfor Measles virus binding. N-glycosylation on Asn-273 is required for Neisseria binding. N-glycosylation is notrequired for human adenovirus binding1
Extensively O-glycosylated in the Ser/Thr-rich domain. O-glycosylation is required for Neisseria binding but not forMeasles virus or human adenovirus binding1
In epithelial cells, isoforms B/D/F/H/J/L/3 are phosphorylated by YES1 in response to infection by Neisseriagonorrhoeae; which promotes infectivity. In T-cells, these isoforms may be phosphorylated by Lck1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P15529
CD46 Protein expression data from MOPED and PaxDb: About this image 
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 ENSP00000413543 ENSP00000354358 Reactome Protein details: P15529
Human Recombinant Protein Products for CD46:
Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table
CD46 for ontologies About GeneDecksing
CD46 Antibody Products:
Assay Products for CD46: |
Protein
Domains /
Families
for CD46 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CD46 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P15529ProtoNet protein and cluster: P15529 1 Blocks protein family: IPB000436 Sushi domain/SCR domain/CCP module
UniProtKB/Swiss-Prot: MCP_HUMAN, P15529Domain: Sushi domains 1 and 2 are required for interaction with human adenovirus B PIV/FIBER protein and with Measlesvirus H protein. Sushi domains 2 and 3 are required for Herpesvirus 6 binding. Sushi domain 3 is required forNeisseria binding. Sushi domains 3 and 4 are required for interaction with Streptococcus pyogenes M protein and arethe most important for interaction with C3b and C4bSimilarity: Contains 4 Sushi (CCP/SCR) domains |
Function
for CD46 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
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,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: MCP_HUMAN, P15529Function: Acts as a cofactor for complement factor I, a serine protease which protects autologous cells againstcomplement-mediated injury by cleaving C3b and C4b deposited on host tissue. May be involved in the fusion of thespermatozoa with the oocyte during fertilization. Also acts as a costimulatory factor for T-cells which induces thedifferentiation of CD4+ into T-regulatory 1 cells. T-regulatory 1 cells suppress immune responses by secretinginterleukin-10, and therefore are thought to prevent autoimmunity. A number of viral and bacterial pathogens seem toexploit this property and directly induce an immunosuppressive phenotype in T-cells by binding to CD46 Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table
CD46 for ontologies About GeneDecksing
Phenotypes:
1 GenomeRNAi human phenotype for CD46:
1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Cd46):
CD46 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-out Cd46tm1Osb for CD46
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CD46 (see all 14)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CD46 (see all 16)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 8): CD46 (NM_002389) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CD46 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD46 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD46 |
|
Pathways & Interactions
for CD46 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Immune response_Alternative complement pathway | | | 2 | Immune response_Classical complement pathway | | | 3 | Immune System | | | 4 | Complement and coagulation cascades | | | 5 | Measles | |
Pathway sources
See GeneCards unified pathways
Show all pathways
3 EMD Millipore Pathways for CD46
3  GeneGo (Thomson Reuters) Pathways for CD46
1  BioSystems Pathway for CD46
4 
Reactome Pathways for CD46
2 
Kegg Pathways (Kegg details for CD46):
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)
5/27 Interacting proteins for CD46 (P155292, 3 ENSP000003138754) via UniProtKB, MINT, STRING, and/or I2D (see all 27)About this table
Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table
CD46 for ontologies About GeneDecksing
|
Drugs & Compounds
for CD46 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, 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 Tocris compounds for CD46
1 DrugBank Compound for CD46 About this table
| Compound | Synonyms |
CAS
# | Type | Actions | PubMed Ids |
|---|
| Alpha-D-Mannose | -- | 3458-28-4 | target | -- | -- |
10/27 Novoseek 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
|
Transcripts
for CD46 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
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,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
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_00238918/20 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
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CD46 (see all 14)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CD46 (see all 16)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 8): CD46 (NM_002389) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CD46 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD46 |
Additional cDNA 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): AU135568 CA429391 AI361077 BM783467 AW059683 X59407 BQ631214 CA397338 NM_153826 X59405 AL552989 BM982643 BM561504 BM677546 BG572541 AA164800 CA448988 BQ014976 BM141897 CA449520 BU077854 BM786251 BM980687 BM765679
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
|
Expression
for CD46 gene
(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
CGAP TAG: CTTTTCAAGA
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, P15529Tissue specificity: Expressed by all cells except erythrocytes
SABiosciences Custom PCR Arrays for CD46
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CD46
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CD46 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CD46 | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CD46 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD46 |
Orthologs
for CD46 gene
(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 3/14 species (see all 14) About this table
ENSEMBL Gene Tree for CD46 (if available)
TreeFam Gene Tree for CD46 (if available) |
Paralogs
for CD46 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CD46 gene
- CSMD12 SEZ6L22 SELP2 C4BPA2 CR22 SELL2 CSMD32 CR1L2
- SEZ62 SELE2 SEZ6L2 CSMD22 CR12 CD552 SVEP12
1 SIMAP similar gene for CD46 using alignment to 2 protein entries: MCP_HUMAN (see all proteins):CR1L
CD46 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for CD46
PGOHUM00000245188
|
Genomic Variants
for CD46 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CD46 (207925383 - 207968861 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CD46: --
Human Gene Mutation Database (HGMD): CD46
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CD46 |
|
Disorders
/ Diseases
for CD46 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
CD46 for disorders About GeneDecksing
OMIM gene information: 120920
OMIM disorders: 612922
UniProtKB/Swiss-Prot: MCP_HUMAN, P15529
Defects in CD46 are a cause of susceptibility to hemolytic uremic syndrome atypical type 2 (AHUS2)[MIM:612922]. An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized bymicroangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis anddiarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher deathrates and frequent progression to end-stage renal disease. Note=Susceptibility to the development of atypicalhemolytic uremic syndrome can be conferred by mutations in various components of or regulatory factors in thecomplement cascade system. Other genes may play a role in modifying the phenotype. Patients with CD46 mutations seemto have an overall better prognosis compared to patients carrying CFH mutations
20/88  diseases for CD46 (see all 88): About MalaCardshemolytic-uremic syndrome measles subacute sclerosing panencephalitis atypical hemolytic-uremic syndrome
exanthema subitum arthus reaction thrombotic thrombocytopenic purpura age related macular degeneration
shipyard eye central nervous system disease necrotizing fasciitis nervous system disease
non-hodgkin lymphoma afibrinogenemia gonorrhea macular degeneration
squamous cell carcinoma spontaneous abortion lupus erythematosus burkitt's lymphoma
7 diseases from the University of Copenhagen DISEASES database for CD46:hemolytic-uremic syndrome Measles Subacute sclerosing panencephalitis Thrombotic thrombocytopenic purpura
Thrombocytopenia Shipyard eye Kidney failure 10/91 Novoseek 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
Atypical Hemolytic-Uremic Syndrome
Genetic Association Database (GAD): CD46
Human Genome Epidemiology (HuGE) Navigator: CD46 (18 documents)
Export disorders for CD46 gene to outside databases
|
Publications
for CD46 gene (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 602):
(articles sorted by number of sources associating them with CD46) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Membrane cofactor protein (MCP; CD46): isoform-specific tyrosine phosphorylation. (PubMed id 10657632)1, 2, 9 Wang G.... Atkinson J.P. (2000)
- 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)
- 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)
- 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)
- 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)
- 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)
- Localization of regions in CD46 that interact with adenovirus. (PubMed id 15919905)1, 2, 9 Gaggar A....Lieber A. (2005)
- Down-regulation of CD46 by piliated Neisseria gonorrhoeae. (PubMed id 14597734)1, 2, 9 Gill D.B.... Atkinson J.P. (2003)
- Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome. (PubMed id 14566051)1, 2, 9 Richards A.... Goodship T.H.J. (2003)
- Post-translational modification and intracellular localization of a splice product of CD46 cloned from human testis: role of the intracellular domains in O-glycosylation. (PubMed id 9659228)1, 2, 9 Hara T.... Seya T. (1998)
|
External Searches for CD46 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing CD46 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CD46 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CD46 gene(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
|
| Name | Description |
| PharmGKB entry for CD46 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CD46 | | SeattleSNPs | http://pga.gs.washington.edu/data/mcp/ |
|
| | |
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
|
Products
for CD46 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
| | |  | OriGene Antibodies for CD46 | | OriGene shRNA RFP for CD46 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CD46 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CD46 | | | OriGene Protein Over-expression Lysate for CD46 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for CD46 | | OriGene 3'-UTR Clone for CD46 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CD46 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CD46 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for CD46 | | OriGene Custom Protein Services for CD46 | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CD46 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CD46 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CD46 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CD46 | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CD46 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CD46 |
| |
 |  |  |  | |
| | | | Search Tocris compounds for CD46 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | CD46 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD46 |
|  |  |  |  | | | | ThermoFisher Antibody for CD46 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD46 |
| |  | |
|
|
|
