Aliases for MYCBP2 Gene
External Ids for MYCBP2 Gene
Previous GeneCards Identifiers for MYCBP2 Gene
This gene encodes an E3 ubiquitin-protein ligase and member of the PHR (Phr1/MYCBP2, highwire and RPM-1) family of proteins. The encoded protein plays a role in axon guidance and synapse formation in the developing nervous system. In mammalian cells, this protein regulates the cAMP and mTOR signaling pathways, and may additionally regulate autophagy. Reduced expression of this gene has been observed in acute lymphoblastic leukemia patients and a mutation in this gene has been identified in patients with a rare inherited vision defect. [provided by RefSeq, Mar 2017]
GeneCards Summary for MYCBP2 Gene
MYCBP2 (MYC Binding Protein 2, E3 Ubiquitin Protein Ligase) is a Protein Coding gene. Diseases associated with MYCBP2 include Ecthyma and Reticulate Acropigmentation Of Kitamura. Among its related pathways are Integrated Breast Cancer Pathway. GO annotations related to this gene include protein homodimerization activity and ligase activity. An important paralog of this gene is IBTK.
UniProtKB/Swiss-Prot for MYCBP2 Gene
E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of TSC2/tuberin. Interacts with the E2 enzymes UBE2D1, UBE2D3 and UBE2L3 (in vitro). May function as a facilitator or regulator of transcriptional activation by MYC. May have a role during synaptogenesis.