ENSG00000117335


Homo sapiens

Features
Gene ID: ENSG00000117335
  
Biological name :CD46
  
Synonyms : CD46 / CD46 molecule / P15529
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q32.2
Gene start: 207752057
Gene end: 207795513
  
Corresponding Affymetrix probe sets: 207549_x_at (Human Genome U133 Plus 2.0 Array)   208783_s_at (Human Genome U133 Plus 2.0 Array)   211574_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000473449
Ensembl peptide - ENSP00000313875
Ensembl peptide - ENSP00000314664
Ensembl peptide - ENSP00000346912
Ensembl peptide - ENSP00000350346
Ensembl peptide - ENSP00000350893
Ensembl peptide - ENSP00000353342
Ensembl peptide - ENSP00000356008
Ensembl peptide - ENSP00000356014
Ensembl peptide - ENSP00000418471
Ensembl peptide - ENSP00000356009
NCBI entrez gene - 4179     See in Manteia.
OMIM - 120920
RefSeq - XM_017001310
RefSeq - NM_002389
RefSeq - NM_153826
RefSeq - NM_172350
RefSeq - NM_172351
RefSeq - NM_172352
RefSeq - NM_172353
RefSeq - NM_172359
RefSeq - NM_172361
RefSeq - XM_011509563
RefSeq - XM_011509564
RefSeq - XM_017001308
RefSeq - XM_017001309
RefSeq Peptide - NP_758862
RefSeq Peptide - NP_758869
RefSeq Peptide - NP_758871
RefSeq Peptide - NP_758861
RefSeq Peptide - NP_758863
RefSeq Peptide - NP_002380
RefSeq Peptide - NP_722548
RefSeq Peptide - NP_758860
swissprot - P15529
swissprot - R4GN18
Ensembl - ENSG00000117335
  
Related genetic diseases (OMIM): 612922 - {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 rca2.1ENSDARG00000056075Danio rerio
 rca2.2ENSDARG00000095512Danio rerio
 C4BPAENSGALG00000001175Gallus gallus
 Cd46ENSMUSG00000016493Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
C4BPA / P04003 / complement component 4 binding protein alphaENSG0000012383830
CFH / P08603 / complement factor HENSG0000000097121
CD55 / P08174 / CD55 molecule (Cromer blood group)ENSG0000019635219
CFHR5 / Q9BXR6 / complement factor H related 5ENSG0000013438918
APOH / P02749 / apolipoprotein HENSG0000009158318
F13B / P05160 / coagulation factor XIII B chainENSG0000014327817
SELP / P16109 / selectin PENSG0000017417517
SELE / P16581 / selectin EENSG0000000790815
CFHR1 / Q03591 / complement factor H related 1ENSG0000024441412
SELL / P14151 / selectin LENSG0000018840411
CFHR4 / Q92496 / complement factor H related 4ENSG0000013436510
CFHR2 / P36980 / complement factor H related 2ENSG0000008091010
BX248415.1ENSG0000027691110
CFHR3 / Q02985 / complement factor H related 3ENSG000001167855


Protein motifs (from Interpro)
Interpro ID Name
 IPR000436  Sushi/SCR/CCP domain
 IPR017341  Membrane cofactor protein CD46
 IPR021157  Cytochrome c1, transmembrane anchor, C-terminal
 IPR035976  Sushi/SCR/CCP superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002250 adaptive immune response IC
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0002456 T cell mediated immunity IMP
 biological_processGO:0006958 complement activation, classical pathway IEA
 biological_processGO:0007338 single fertilization IEA
 biological_processGO:0008593 regulation of Notch signaling pathway IDA
 biological_processGO:0010628 positive regulation of gene expression IMP
 biological_processGO:0010629 negative regulation of gene expression IDA
 biological_processGO:0016032 viral process IEA
 biological_processGO:0030449 regulation of complement activation TAS
 biological_processGO:0032613 interleukin-10 production IDA
 biological_processGO:0032733 positive regulation of interleukin-10 production IDA
 biological_processGO:0035581 sequestering of extracellular ligand from receptor IDA
 biological_processGO:0042102 positive regulation of T cell proliferation IDA
 biological_processGO:0043382 positive regulation of memory T cell differentiation IDA
 biological_processGO:0045087 innate immune response IEA
 biological_processGO:0045591 positive regulation of regulatory T cell differentiation IDA
 biological_processGO:0046718 viral entry into host cell IEA
 biological_processGO:0071636 positive regulation of transforming growth factor beta production IDA
 cellular_componentGO:0002079 inner acrosomal membrane IEA
 cellular_componentGO:0005886 plasma membrane NAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0005925 focal adhesion HDA
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0001618 virus receptor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0045296 cadherin binding IPI


Pathways (from Reactome)
Pathway description
Regulation of Complement cascade


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000125730 C3 / P01024 / complement C3  / reaction / complex
 ENSG00000205403 CFI / P05156 / complement factor I  / reaction / complex
 ENSG00000224389 C4B / P0C0L5 / complement C4B (Chido blood group)  / reaction / complex
 ENSG00000244731 C4A / P0C0L4 / complement C4A (Rodgers blood group)  / complex / reaction






 

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