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: | ZNF423 |
Gene Name: | ZNF423 |
Protein Full Name: | Zinc finger protein 423 |
Alias: | Early B-cell factor associated zinc finger protein; Ebfaz; KIAA0760; OAZ; OLF-1/EBF associated zinc finger gene; Olf1/EBF-associated zinc finger protein; Roaz; Smad- and Olf-interacting zinc finger protein; Zfp104; Zinc finger 423 |
Mass (Da): | 144605 |
Number AA: | 1284 |
UniProt ID: | Q2M1K9 |
Locus ID: | 23090 |
COSMIC ID: | ZNF423 |
Gene location on chromosome: | 16q12.1 |
Cancer protein type: | TSP |
Effect of cancer mutation on protein: | UNCLEAR |
Effect of active protein on cancer: | INHIBITS |
Number of cancer specimens: | 19539 |
Percent of cancer specimens with mutations: | 1.86 |
Normal role description: | ZNF423 is a nuclear protein that belongs to the Kruppel-like C2H2 zinc finger protein family. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signalling pathways, and is hence thought to have multiple roles in signal transduction during development. It can act both to activate or repress transcription depending on the context, and plays a central role in BMP signalling and olfactory neurogenesis. It acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved in terminal olfactory receptor neurons differentiation, and via this interaction it prevents EBF1 to bind DNA and activates olfactory-specific genes. It is involved in olfactory neurogenesis by participating in a developmental switch that regulates the transition from differentiation to maturation in olfactory receptor neurons, and controls proliferation and differentiation of neural precursors in cerebellar vermis formation. It functions as a tumour suppressor protein in various cancers such as neuroblastoma for example, where downregulation of the protein results in a growth advantage and resistance to RA-induced differentiation, whereas overexpression leads to growth inhibition and enhanced differentiation, and low ZNF423 expression is associated with poor disease outcome in neuroblastoma patients. |
Commentary on involvement of protein in cancer: | 1/101 kidney samples was also mutated (Sanger COSMIC) |