DISEASES

Disease-gene associations mined from literature

Literature on IRF2BPL

IRF2BPL [ENSP00000238647]

Probable E3 ubiquitin-protein ligase IRF2BPL; Probable E3 ubiquitin protein ligase involved in the proteasome-mediated ubiquitin-dependent degradation of target proteins . Through the degradation of CTNNB1, functions downstream of FOXF2 to negatively regulate the Wnt signaling pathway . 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). ECO:0000269|PubMed:29374064, ECO:0000305|PubMed:17334524,; Belongs to the IRF2BP family.

Synonyms:  IRF2BPL,  IRF2BPLp,  hIRF2BPL,  Q9H1B7,  Q9H1B7p ...

Linkouts:  STRING  Pharos  UniProt