Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | MAMDC4 |
| Gene Name: | MAMDC4 |
| Protein Full Name: | Apical endosomal glycoprotein |
| Alias: | AEGP; apical early endosomal glycoprotein precursor; apical endosomal glycoprotein; DKFZp434M1411; MAM domain containing 4 |
| Mass (Da): | 131500 |
| Number AA: | 1216 |
| UniProt ID: | Q6UXC1 |
| Locus ID: | 158056 |
| COSMIC ID: | MAMDC4 |
| Gene location on chromosome: | 9q34.3 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 19690 |
| Percent of cancer specimens with mutations: | 0.67 |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | NA |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | MAMDC4 is a cell surface glycoprotein that is likely involved in selective transport of receptors and ligands across the apical end of epithelia. Its function in cancer is unknown, but P244T and R1174W mutations have been associated with breast cancer samples. |
| Commentary on involvement of protein in cancer: | no entry in AGO |