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: | KCNH2 |
| Gene Name: | KCNH2 |
| Protein Full Name: | Potassium voltage-gated channel subfamily H member |
| Alias: | Cause of long QT syndrome type 2; Eag-related 1; ERG; ERG1; Ether-a-go-go-related 1; Ether-a-go-go-related potassium channel 1; HERG; Kv11.1; LQT2; Potassium voltage-gated channel H 2; Potassium voltage-gated channel, subfamily H (eag-related) member 2; SQT1 |
| Mass (Da): | 126655 |
| Number AA: | 1159 |
| UniProt ID: | Q45QN5 |
| Locus ID: | 3757 |
| COSMIC ID: | KCNH2 |
| Gene location on chromosome: | 7q36.1 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 19626 |
| Percent of cancer specimens with mutations: | 1.03 |
| Normal role description: | KCNH2 is a subunit that is part of a potassium voltage gated channel. It is regualted by cAMP to restore potassium concentration in the cell. It is also found to be involved in cell proliferation and apoptosis. Inhibition in tumours overexpression of KCHNH2 reduced cell proliferation and migration. |