MYCBP2

Chr 13

MYC binding protein 2

Also known as: Myc-bp2, PAM, PHR1, Phr

NCBI Gene: 23077 ENSG00000005810 UniProt: O75592

The protein functions as an atypical E3 ubiquitin ligase that ubiquitinates threonine and serine residues on target proteins and plays a key role in neural development by regulating neurite outgrowth, synaptic growth, axon guidance, and axon degeneration. Mutations cause inherited vision defects with an autosomal dominant inheritance pattern. MYCBP2 is highly constrained against loss-of-function mutations, indicating that haploinsufficiency is likely not tolerated in the general population.

ResearchSummary from RefSeq, UniProt

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]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.12

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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