CD46 - CD46 molecule Gene
Also Known as MCP; TLX; AHUS2; MIC10; TRA2.10
Species: Homo sapiens
About CD46
This gene has 33 transcripts (splice variants), 135 orthologues, 39 paralogues and is associated with 3 phenotypes. Ubiquitous expression in adrenal (RPKM 99.0), placenta (RPKM 71.8) and 25 other tissues.
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]
CD46 Products (12)
| mRNA | Protein | Name |
|---|---|---|
| NM_002389.4 | NP_002380.3 | membrane cofactor protein isoform 1 precursor |
| NM_153826.4 | NP_722548.1 | membrane cofactor protein isoform 4 precursor |
| NM_172350.3 | NP_758860.1 | membrane cofactor protein isoform 14 precursor |
| NM_172351.3 | NP_758861.1 | membrane cofactor protein isoform 3 precursor |
| NM_172352.3 | NP_758862.1 | membrane cofactor protein isoform 5 precursor |
| NM_172353.3 | NP_758863.1 | membrane cofactor protein isoform 6 precursor |
| NM_172355.3 | NP_758865.1 | membrane cofactor protein isoform 9 precursor |
| NM_172356.3 | NP_758866.1 | membrane cofactor protein isoform 10 precursor |
| NM_172357.3 | NP_758867.1 | membrane cofactor protein isoform 11 precursor |
| NM_172358.3 | NP_758868.1 | membrane cofactor protein isoform 13 precursor |
| NM_172359.3 | NP_758869.1 | membrane cofactor protein isoform 2 precursor |
| NM_172361.3 | NP_758871.1 | membrane cofactor protein isoform 12 precursor |
| Molecular Function GO Annotation | Evidence | Referencias | Source |
|---|---|---|---|
| enables cadherin binding |
IPI
IPI: Inferred from physical interaction
|
23086448 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
18796626 | GOA |
| Cellular Component GO Annotation | Evidence | Referencias | Source |
|---|---|---|---|
| located in cell surface |
IDA
IDA: Inferred from direct assay
|
23086448 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
20534589 | GOA |
CD46 Protein Structure
Sushi: Sushi repeat (SCR repeat) (35 - 88)
Sushi: Sushi repeat (SCR repeat) (99 - 157)
Sushi: Sushi repeat (SCR repeat) (162 - 223)
Sushi: Sushi repeat (SCR repeat) (233 - 283)
- 0
- 100
- 200
- 300
- 392 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
membrane cofactor protein |
|
CD46 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Referencias |
|---|---|---|---|---|---|---|---|
|
Intra
|
CD46 | P15529 | JAG1 | Homo sapiens | P78504 | 23086448 | |
|
Intra
|
CD46 | P15529 | JAG1 | Homo sapiens | P78504 | 23086448 |
Recombinant CD46 Proteins
| Referencia número | Nombre del producto | Accession | Pureza |
|---|---|---|---|
| HY-P72020 | CD46 Protein, Human (HEK293, hFc) | P15529-1 (C35-Y328) | ≥ 90%, as determined by reducing SDS-PAGE. |
| HY-P72723 | CD46 Protein, Human (HEK293, His) | P15529-11 (C35-D328) | ≥ 95%, as determined by reducing SDS-PAGE. |
CD46 Antibodies
| Referencia número | Nombre del producto | Aplicación | Reactivity |
|---|---|---|---|
| HY-P80064 | CD46 Antibody (YA532) | WB, ICC/IF, IHC-P | Human, Rat |
| HY-P84114 | CD46 Antibody (YA3811) | IHC-P, FC, ELISA | Human |
| HY-P84114A | CD46 Antibody (YA3811)(PBS only) | IHC-P, FC, ELISA | Human |
| HY-P84115 | CD46 Antibody (YA3812) | WB, ICC/IF, FC, ELISA | Human |
| HY-P84115A | CD46 Antibody (YA3812)(PBS only) | WB, ICC/IF, FC, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hemolytic Uremic Syndrome, Atypical 2 |
|
|
| D-Minus Hemolytic Uremic Syndrome |
|
|
| Thrombotic Microangiopathy |
|
|
| Atypical Hemolytic Uremic Syndrome With Complement Gene Abnormality |
|
|
| Hemolytic Uremic Syndrome, Atypical 1 |
|
|
| Measles |
|
|
| Hellp Syndrome |
|
|
| Subacute Sclerosing Panencephalitis |
|
|
| Hemolytic-Uremic Syndrome |
|
|
| Genetic Atypical Hemolytic-Uremic Syndrome |
|
|
| Thrombotic Thrombocytopenic Purpura |
|
|
| Shipyard Eye |
|
|
| Keratoconjunctivitis |
|
|
| Arthus Reaction |
|
|
| Membranoproliferative Glomerulonephritis |
|
|
| Meningitis |
|
|
| Glomerulonephritis |
|
|
| Mumps |
|
|
| Properdin Deficiency, X-Linked |
|
|
| Fasciitis |
|
|
| Exanthema Subitum |
|
|
| Afibrinogenemia, Congenital |
|
|
| Otosclerosis |
|
|
| Pharyngoconjunctival Fever |
|
|
| Complement Deficiency |
|
|
| Complement Component 3 Deficiency |
|
|
| End Stage Renal Disease |
|
|
| Hemolytic Anemia |
|
|
| Malignant Hypertension |
|
|
| Complement Component 5 Deficiency |
|
|
| Viral Infectious Disease |
|
|
| Herpangina |
|
|
| Macular Degeneration, Age-Related, 1 |
|
|
| Diarrhea |
|
|
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
|
| Thrombocytopenia |
|
|
| Systemic Lupus Erythematosus |
|
|
| Croup |
|
|
| Multiple Sclerosis |
|
|
| Monkeypox |
|
|
| West Nile Encephalitis |
|
|
| Hereditary Angioedema |
|
|
| Degeneration Of Macula And Posterior Pole |
|
|
| 3mc Syndrome |
|
|
| Dilated Cardiomyopathy |
|
|
| Blood Platelet Disease |
|
|
| Galloway-Mowat Syndrome 1 |
|
|
| Methylmalonic Acidemia |
|
|
| Ovarian Cancer |
|
|
| Acute Hemorrhagic Encephalitis |
|
|
| Melanoma, Uveal |
|
|
| Immune Deficiency Disease |
|
|
| Meningococcal Infection |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | CD46 | MGD | MGI:1203290 |
| Rattus norvegicus | CD46 | RGD | RGD:3061 |
| Macaca mulatta | CD46 | VGNC | VGNC:70930 |
| Others | CD46 | NCBI |