MYCBPAP
Chr 17MYCBP associated protein
Also known as: AMAP-1, AMAP1
Predicted to enable clathrin binding activity and phospholipid binding activity. Involved in spermatogenesis. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Clinical Summary— MYCBPAP
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
11 Pathogenic / Likely Pathogenic· 138 VUS of 162 total submissions
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.64LOEUF
pLI 0.000
Z-score 3.59
OE 0.45 (0.32–0.64)
Typical tolerance to LoF variation
Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.31Z-score
OE missense 0.96 (0.90–1.03)
539 obs / 559.7 exp
Mild missense constraint
Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.45 (0.32–0.64)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.96 (0.90–1.03)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.94
0≤1.21.6
LoF obs/exp: 22 / 49.2Missense obs/exp: 539 / 559.7Syn Z: 0.70
ClinVar Variant Classifications
162 submitted variants in ClinVar
Classification Summary
Pathogenic10
Likely Pathogenic1
VUS138
Likely Benign13
10
Pathogenic
1
Likely Pathogenic
138
VUS
13
Likely Benign
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 10 | 0 | 10 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 132 | 6 | 0 | 138 |
Likely Benign | 0 | 13 | 0 | 0 | 13 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 145 | 17 | 0 | 162 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MYCBPAP · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype Relationships
1 OMIM entry
MYCBP-ASSOCIATED PROTEIN; MYCBPAP
MIM #609835 · *
External Resources
Links to major genomics databases and tools
Clinical Literature
Landmark / reviewRecent case evidence
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Domain-Level Interaction of FAP174 (MYCBP-1) and FAP147 (MYCBPAP) Proteins of the C2a Projection of Chlamydomonas Cilia.
Desai S et al.·Cytoskeleton (Hoboken)
2026
MYCBPAP is a central apparatus protein required for centrosome-nuclear envelope docking and sperm tail biogenesis in mice.
Wang H et al.·J Cell Sci
2024
Exosome-shuttled MYCBPAP from bone marrow mesenchymal stem cells regulates synaptic remodeling and ameliorates ischemic stroke in rats.
Yan Q et al.·J Chem Neuroanat
2023Functional
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
Identification of Specific LncRNA Markers in Severe Tuberculosis for Early Diagnosis.
Yao S et al.·Infect Drug Resist
2025
Genetic correlations among diaphragmatic, femoral, inguinal, ventral, and umbilical hernias and identification of their candidate genes.
Shi H et al.·Int J Surg
2026
Chlamydomonas FAP70 is a component of the previously uncharacterized ciliary central apparatus projection C2a.
Hou Y et al.·J Cell Sci
2021
CFAP65 is essential for C2a projection integrity in axonemes: implications for organ-specific ciliary dysfunction and infertility
Chen J et al.·Cell Mol Life Sci
2025
Identification of a novel peripheral blood signature diagnosing subclinical acute rejection after renal transplantation
Xu Y et al.·Transl Androl Urol
2022
Proteome-wide in silico screening for human protein-protein interactions
Schmid EW et al.·bioRxiv
2025
Top 6 full-text resultsSearch PubTator3 ↗
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