CD46 (CD46 molecule)

2007-02-01  

Identity

HGNC
LOCATION
1q32.2
LOCUSID
ALIAS
AHUS2,MCP,MIC10,TLX,TRA2.10
FUSION GENES

Other Information

Locus ID:

NCBI: 4179
MIM: 120920
HGNC: 6953
Ensembl: ENSG00000117335

Variants:

dbSNP: 4179
ClinVar: 4179
TCGA: ENSG00000117335
COSMIC: CD46

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117335ENST00000322875P15529
ENSG00000117335ENST00000322918P15529
ENSG00000117335ENST00000354848P15529
ENSG00000117335ENST00000357714P15529
ENSG00000117335ENST00000358170P15529
ENSG00000117335ENST00000360212P15529
ENSG00000117335ENST00000367041P15529
ENSG00000117335ENST00000367042P15529
ENSG00000117335ENST00000367047P15529
ENSG00000117335ENST00000462968R4GN18
ENSG00000117335ENST00000480003P15529

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Complement and coagulation cascadesKEGGko04610
Complement and coagulation cascadesKEGGhsa04610
MeaslesKEGGko05162
MeaslesKEGGhsa05162
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Complement cascadeREACTOMER-HSA-166658
Regulation of Complement cascadeREACTOMER-HSA-977606

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
166219652006Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.169
125409042003Activation of human CD4+ cells with CD3 and CD46 induces a T-regulatory cell 1 phenotype.161
129155342003Adenovirus type 11 uses CD46 as a cellular receptor.122
145660512003Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome.102
150789262004The human membrane cofactor CD46 is a receptor for species B adenovirus serotype 3.101
198616852010Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.99
198373752009Autophagy induction by the pathogen receptor CD46.96
175999742007Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome.93
205131332010Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.88
150478062004Membrane cofactor protein is a receptor for adenoviruses associated with epidemic keratoconjunctivitis.73

Citation

Dessen P

CD46 (CD46 molecule)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46109/cd46