CD46 CD46 molecule
Gene ID: 4179, updated on 28-Oct-2024Gene type: protein coding
Also known as: MCP; TLX; AHUS2; MIC10; TRA2.10
- See all available tests in GTR for this gene
- Go to complete Gene record for CD46
- Go to Variation Viewer for CD46 variants
Summary
The protein encoded by this gene is a type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cell from damage by complement. In addition, the encoded protein can act as a receptor for the Edmonston strain of measles virus, human herpesvirus-6, and type IV pili of pathogenic Neisseria. Finally, the protein encoded by this gene may be involved in the fusion of the spermatozoa with the oocyte during fertilization. Mutations at this locus have been associated with susceptibility to hemolytic uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. GeneReviews: Not available | |
| Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | not available |
| Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available | |
| Common variants associated with general and MMR vaccine-related febrile seizures. GeneReviews: Not available | |
| Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. GeneReviews: Not available | |
| Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Genomic context
- Location:
- 1q32.2
- Sequence:
- Chromosome: 1; NC_000001.11 (207752038..207795516)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CD46 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CD46 database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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