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CD46 (CD46 molecule)

Identity

Alias_namesMIC10
MCP
antigen identified by monoclonal antibody TRA-2-10
membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)
CD46 antigen, complement regulatory protein
CD46 molecule, complement regulatory protein
Alias_symbol (synonym)TRA2.10
MGC26544
TLX
Other aliasAHUS2
HGNC (Hugo) CD46
LocusID (NCBI) 4179
Atlas_Id 46109
Location 1q32.2  [Link to chromosome band 1q32]
Location_base_pair Starts at 207752038 and ends at 207795516 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CD46 (1q32.2) / CD46 (1q32.2)CD46 (1q32.2) / NUCB2 (11p15.1)CD46 (1q32.2) / USH2A (1q41)
CD46 (1q32.2) / ZNF93 (19p12)MRPS25 (3p25.1) / CD46 (1q32.2)PAQR3 (4q21.21) / CD46 (1q32.2)
SETDB1 (1q21.3) / CD46 (1q32.2)SETDB1 1q21.3 / CD46 1q32.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CD46   6953
LRG (Locus Reference Genomic)LRG_155
Cards
Entrez_Gene (NCBI)CD46  4179  CD46 molecule
AliasesAHUS2; MCP; MIC10; TLX; 
TRA2.10
GeneCards (Weizmann)CD46
Ensembl hg19 (Hinxton)ENSG00000117335 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000117335 [Gene_View]  chr1:207752038-207795516 [Contig_View]  CD46 [Vega]
ICGC DataPortalENSG00000117335
TCGA cBioPortalCD46
AceView (NCBI)CD46
Genatlas (Paris)CD46
WikiGenes4179
SOURCE (Princeton)CD46
Genetics Home Reference (NIH)CD46
Genomic and cartography
GoldenPath hg38 (UCSC)CD46  -     chr1:207752038-207795516 +  1q32.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CD46  -     1q32.2   [Description]    (hg19-Feb_2009)
EnsemblCD46 - 1q32.2 [CytoView hg19]  CD46 - 1q32.2 [CytoView hg38]
Mapping of homologs : NCBICD46 [Mapview hg19]  CD46 [Mapview hg38]
OMIM120920   612922   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_002389 NM_153826 NM_172350 NM_172351 NM_172352 NM_172353 NM_172354 NM_172355 NM_172356 NM_172357 NM_172358 NM_172359 NM_172360 NM_172361
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CD46
Cluster EST : UnigeneHs.510402 [ NCBI ]
CGAP (NCI)Hs.510402
Alternative Splicing GalleryENSG00000117335
Gene ExpressionCD46 [ NCBI-GEO ]   CD46 [ EBI - ARRAY_EXPRESS ]   CD46 [ SEEK ]   CD46 [ MEM ]
Gene Expression Viewer (FireBrowse)CD46 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4179
GTEX Portal (Tissue expression)CD46
Protein : pattern, domain, 3D structure
UniProt/SwissProtP15529   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP15529  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP15529
Splice isoforms : SwissVarP15529
PhosPhoSitePlusP15529
Domaine pattern : Prosite (Expaxy)SUSHI (PS50923)   
Domains : Interpro (EBI)CD46    Sushi_SCR_CCP_dom   
Domain families : Pfam (Sanger)Sushi (PF00084)   
Domain families : Pfam (NCBI)pfam00084   
Domain families : Smart (EMBL)CCP (SM00032)  
Conserved Domain (NCBI)CD46
DMDM Disease mutations4179
Blocks (Seattle)CD46
PDB (SRS)1CKL    1HR4    2O39    3INB    3L89    3O8E    5FO8   
PDB (PDBSum)1CKL    1HR4    2O39    3INB    3L89    3O8E    5FO8   
PDB (IMB)1CKL    1HR4    2O39    3INB    3L89    3O8E    5FO8   
PDB (RSDB)1CKL    1HR4    2O39    3INB    3L89    3O8E    5FO8   
Structural Biology KnowledgeBase1CKL    1HR4    2O39    3INB    3L89    3O8E    5FO8   
SCOP (Structural Classification of Proteins)1CKL    1HR4    2O39    3INB    3L89    3O8E    5FO8   
CATH (Classification of proteins structures)1CKL    1HR4    2O39    3INB    3L89    3O8E    5FO8   
SuperfamilyP15529
Human Protein AtlasENSG00000117335
Peptide AtlasP15529
HPRD00406
IPIIPI00012035   IPI00173903   IPI00398353   IPI00398354   IPI00374175   IPI00374176   IPI00374178   IPI00479283   IPI00219852   IPI00456644   IPI00332397   IPI00332399   IPI00374177   IPI00332401   IPI00219853   IPI00337661   
Protein Interaction databases
DIP (DOE-UCLA)P15529
IntAct (EBI)P15529
FunCoupENSG00000117335
BioGRIDCD46
STRING (EMBL)CD46
ZODIACCD46
Ontologies - Pathways
QuickGOP15529
Ontology : AmiGOvirus receptor activity  acrosomal vesicle  complement binding  inner acrosomal membrane  adaptive immune response  T cell mediated immunity  endopeptidase activity  enzyme inhibitor activity  receptor activity  protein binding  Golgi apparatus  plasma membrane  plasma membrane  integral component of plasma membrane  focal adhesion  proteolysis  complement activation, classical pathway  single fertilization  regulation of Notch signaling pathway  cell surface  positive regulation of gene expression  negative regulation of gene expression  basolateral plasma membrane  regulation of complement activation  interleukin-10 production  positive regulation of interleukin-10 production  sequestering of extracellular ligand from receptor  positive regulation of T cell proliferation  negative regulation of catalytic activity  positive regulation of memory T cell differentiation  innate immune response  cadherin binding  positive regulation of regulatory T cell differentiation  negative regulation of complement activation  viral entry into host cell  extracellular exosome  positive regulation of transforming growth factor beta production  
Ontology : EGO-EBIvirus receptor activity  acrosomal vesicle  complement binding  inner acrosomal membrane  adaptive immune response  T cell mediated immunity  endopeptidase activity  enzyme inhibitor activity  receptor activity  protein binding  Golgi apparatus  plasma membrane  plasma membrane  integral component of plasma membrane  focal adhesion  proteolysis  complement activation, classical pathway  single fertilization  regulation of Notch signaling pathway  cell surface  positive regulation of gene expression  negative regulation of gene expression  basolateral plasma membrane  regulation of complement activation  interleukin-10 production  positive regulation of interleukin-10 production  sequestering of extracellular ligand from receptor  positive regulation of T cell proliferation  negative regulation of catalytic activity  positive regulation of memory T cell differentiation  innate immune response  cadherin binding  positive regulation of regulatory T cell differentiation  negative regulation of complement activation  viral entry into host cell  extracellular exosome  positive regulation of transforming growth factor beta production  
Pathways : KEGGComplement and coagulation cascades    Measles   
NDEx NetworkCD46
Atlas of Cancer Signalling NetworkCD46
Wikipedia pathwaysCD46
Orthology - Evolution
OrthoDB4179
GeneTree (enSembl)ENSG00000117335
Phylogenetic Trees/Animal Genes : TreeFamCD46
HOVERGENP15529
HOGENOMP15529
Homologs : HomoloGeneCD46
Homology/Alignments : Family Browser (UCSC)CD46
Gene fusions - Rearrangements
Fusion : MitelmanCD46/USH2A [1q32.2/1q41]  
Fusion : MitelmanSETDB1/CD46 [1q21.3/1q32.2]  [t(1;1)(q21;q32)]  
Fusion: TCGASETDB1 1q21.3 CD46 1q32.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCD46 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CD46
dbVarCD46
ClinVarCD46
1000_GenomesCD46 
Exome Variant ServerCD46
ExAC (Exome Aggregation Consortium)CD46 (select the gene name)
Genetic variants : HAPMAP4179
Genomic Variants (DGV)CD46 [DGVbeta]
DECIPHERCD46 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCD46 
Mutations
ICGC Data PortalCD46 
TCGA Data PortalCD46 
Broad Tumor PortalCD46
OASIS PortalCD46 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCD46  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCD46
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Pharmacogenomics of Infectious Diseases (PGx_IfD )
BioMutasearch CD46
DgiDB (Drug Gene Interaction Database)CD46
DoCM (Curated mutations)CD46 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CD46 (select a term)
intoGenCD46
Cancer3DCD46(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120920    612922   
Orphanet12417   
MedgenCD46
Genetic Testing Registry CD46
NextProtP15529 [Medical]
TSGene4179
GENETestsCD46
Target ValidationCD46
Huge Navigator CD46 [HugePedia]
snp3D : Map Gene to Disease4179
BioCentury BCIQCD46
ClinGenCD46
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4179
Chemical/Pharm GKB GenePA30700
Clinical trialCD46
Miscellaneous
canSAR (ICR)CD46 (select the gene name)
Probes
Litterature
PubMed192 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCD46
EVEXCD46
GoPubMedCD46
iHOPCD46
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:49:14 CEST 2017

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