Gene: MYCBP2
Alternate names for this Gene: Myc-bp2|PAM|PHR1|Phr
Gene 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.
Gene is located in Chromosome: 13
Location in Chromosome : 13q22.3
Description of this Gene: MYC binding protein 2
Type of Gene: protein-coding
rs7322722 in
MYCBP2 gene and
Pre-Eclampsia
PMID 23551011 2013 Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.
rs7322722 in
MYCBP2 gene and
Septic Toxemia
PMID 23551011 2013 Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.