CD46 Chromosome 1
CD46 molecule
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What This Gene Does
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]
Gene Info
Gene Group
"CD molecules|Sushi domain containing|Complement system regulators and receptors"
Locus Type
gene with protein product
Location
1q32.2
Ensembl
ENSG00000117335
Associated Conditions (7)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Atypical hemolytic-uremic syndrome
Familial Atypical Hemolytic-Uremic Syndrome
CD46-related disorder
Kidney disorder
Nonpapillary renal cell carcinoma
Thrombotic microangiopathy
Key Variants
RS112089594
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Health Risk
RS116800126
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Health Risk
RS1184770295
Conflicting classifications of pathogenicity
Familial Atypical Hemolytic-Uremic Syndrome, Atypical hemolytic-uremic syndrome, Familial Atypical Hemolytic-Uremic Syndrome
Health Risk
RS1210978043
Conflicting classifications of pathogenicity
Health Risk
RS121909589
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Health Risk
RS121909591
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Health Risk
RS140298514
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Health Risk
RS146803767
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, CD46-related disorder, Atypical hemolytic-uremic syndrome
Health Risk
RS148383499
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, CD46-related disorder, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Health Risk
RS150429980
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Health Risk
RS17006830
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Kidney disorder, Atypical hemolytic-uremic syndrome
Health Risk
RS202071781
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome
Health Risk
All Variants (64)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112089594 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly |
| RS116800126 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly |
| RS1184770295 | Health Risk | Conflicting classifications of pathogenicity | Familial Atypical Hemolytic-Uremic Syndrome, Atypical hemolytic-uremic syndrome, Familial Atypical Hemolytic-Uremic Syndrome |
| RS1210978043 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS121909589 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly |
| RS121909591 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly |
| RS140298514 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly |
| RS146803767 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, CD46-related disorder, Atypical hemolytic-uremic syndrome |
| RS148383499 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, CD46-related disorder, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly |
| RS150429980 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly |
| RS17006830 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Kidney disorder, Atypical hemolytic-uremic syndrome |
| RS202071781 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome |
| RS2102512645 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome |
| RS2102552865 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome |
| RS2526402294 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2526459784 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome |
| RS2526528732 | Health Risk | Conflicting classifications of pathogenicity | Familial Atypical Hemolytic-Uremic Syndrome, Atypical hemolytic-uremic syndrome, Familial Atypical Hemolytic-Uremic Syndrome |
| RS368371683 | Health Risk | Conflicting classifications of pathogenicity | Kidney disorder, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome |
| RS370112627 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly |
| RS376519984 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly |
| RS41317833 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, CD46-related disorder, Atypical hemolytic-uremic syndrome |
| RS557590325 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS564910868 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome |
| RS750342865 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome |
| RS757404475 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS764242699 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, CD46-related disorder, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly |
| RS771467005 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly |
| RS779174212 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly |
| RS1255421232 | Health Risk | Likely pathogenic | Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly |
| RS1571616755 | Health Risk | Likely pathogenic | Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly |
| RS1655006399 | Health Risk | Likely pathogenic | Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome |
| RS1656958874 | Health Risk | Likely pathogenic | — |
| RS2102538157 | Health Risk | Likely pathogenic | — |
| RS2102542129 | Health Risk | Likely pathogenic | — |
| RS2526461415 | Health Risk | Likely pathogenic | — |
| RS2526542722 | Health Risk | Likely pathogenic | — |
| RS373127045 | Health Risk | Likely pathogenic | Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly |
| RS771423488 | Health Risk | Likely pathogenic | Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly |
| RS773618613 | Health Risk | Likely pathogenic | CD46-related disorder, CD46-related disorder |
| RS1057516191 | Health Risk | Pathogenic | Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly |
| RS1343140692 | Health Risk | Pathogenic | Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly |
| RS1419898630 | Health Risk | Pathogenic | Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome |
| RS1441937053 | Health Risk | Pathogenic | Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly |
| RS1558056827 | Health Risk | Pathogenic | Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly |
| RS1571588257 | Health Risk | Pathogenic | Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly |
| RS1571617647 | Health Risk | Pathogenic | Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly |
| RS1655966037 | Health Risk | Pathogenic | — |
| RS2102541856 | Health Risk | Pathogenic | Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly |
| RS2102552416 | Health Risk | Pathogenic | — |
| RS2102598897 | Health Risk | Pathogenic | — |