The CD46 gene homepage

General information
Gene symbol CD46
Gene name CD46 molecule, complement regulatory protein
Chromosome 1
Chromosomal band q32
Imprinted Unknown
Genomic reference LRG_155
Transcript reference NM_002389.4
Exon/intron information NM_002389.4 exon/intron table
Associated with diseases AHUS-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) James Smith and Judy Savige
Total number of public variants reported 45
Unique public DNA variants reported 35
Individuals with public variants 9
Hidden variants 2
Notes Alias: MCP (Membrane Cofactor Protein)
Date created May 03, 2013
Date last updated September 15, 2020
Version CD46:200915

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_002389.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 6953
Entrez Gene 4179
PubMed articles CD46
OMIM - Gene 120920
OMIM - Diseases AHUS-2 (hemolytic-uremic syndrome, atypical, type 2 (AHUS-2))
GeneCards CD46
GeneTests CD46

Active transcripts




NCBI ID     

NCBI Protein ID     

00023940 1 transcript variant a NM_002389.4 NP_002380.3 45

Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.