MYCBP2, Official Symbol MYCBP2provided by HGNC Official Full Name MYC binding protein 2provided by HGNC Primary source HGNC:HGNC:23386 See related Ensembl:ENSG00000005810 MIM:610392; AllianceGenome:HGNC:23386 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PAM; Phr; PHR1; Myc-bp2 Summary 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] Expression Ubiquitous expression in skin (RPKM 12.3), brain (RPKM 10.8) and 25 other tissues See more Orthologs mouse all