Aliases for ZNF423 Gene
External Ids for ZNF423 Gene
Previous GeneCards Identifiers for ZNF423 Gene
The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2012]
GeneCards Summary for ZNF423 Gene
ZNF423 (Zinc Finger Protein 423) is a Protein Coding gene. Diseases associated with ZNF423 include nephronophthisis 14 and joubert syndrome with oculorenal anomalies. Among its related pathways are TGF Beta Signaling Pathway. GO annotations related to this gene include nucleic acid binding. An important paralog of this gene is ZNF521.
UniProtKB/Swiss-Prot for ZNF423 Gene
Transcription factor that can both act as an activator or a repressor depending on the context. Plays a central role in BMP signaling and olfactory neurogenesis. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved in terminal olfactory receptor neurons differentiation; this interaction preventing EBF1 to bind DNA and activate olfactory-specific genes. Involved in olfactory neurogenesis by participating in a developmental switch that regulates the transition from differentiation to maturation in olfactory receptor neurons. Controls proliferation and differentiation of neural precursors in cerebellar vermis formation.