MYCBP2

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]

Description

MYC binding protein 2

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Vesicles, Cytosol

Predicted location

Intracellular

Protein family

Enzymes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

13 (77044657 - 77327094)

Ensembl ID

ENSG00000005810  (ver. 103.38)

Orthologs

Mouse Mycbp2: ENSMUSG00000033004

UniProt

O75592

neXtProt

NX_O75592

Human splice variants
Mouse splice variants

Protein structure