MYCBP2
Chr 13MYC binding protein 2
Also known as: Myc-bp2, PAM, PHR1, Phr
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Extremely missense-constrained (top ~0.01%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
499 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 6 | 2 | 4 | 0 | 12 |
Likely Pathogenic | 5 | 1 | 0 | 0 | 6 |
VUS | 4 | 388 | 7 | 0 | 399 |
Likely Benign | 0 | 2 | 0 | 3 | 5 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 1 | |||
| Total | 15 | 393 | 11 | 3 | 423 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MYCBP2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools