Aliases for IRF2BPL Gene
External Ids for IRF2BPL Gene
Previous HGNC Symbols for IRF2BPL Gene
Previous GeneCards Identifiers for IRF2BPL Gene
This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012]
GeneCards Summary for IRF2BPL Gene
IRF2BPL (Interferon Regulatory Factor 2 Binding Protein Like) is a Protein Coding gene. Diseases associated with IRF2BPL include Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures. An important paralog of this gene is IRF2BP2.
UniProtKB/Swiss-Prot Summary for IRF2BPL Gene
Probable E3 ubiquitin protein ligase involved in the proteasome-mediated ubiquitin-dependent degradation of target proteins (PubMed:29374064). Through the degradation of CTNNB1, functions downstream of FOXF2 to negatively regulate the Wnt signaling pathway (PubMed:29374064). Probably plays a role in the development of the central nervous system and in neuronal maintenance (Probable). Also acts as a transcriptional regulator of genes controlling female reproductive function. May play a role in gene transcription by transactivating GNRH1 promoter and repressing PENK promoter (By similarity).