MYCBP

Chr 1

MYC binding protein

Also known as: AMY-1

NCBI Gene: 26292ENSG00000214114UniProt: Q99417

The protein encoded by this gene binds to the N-terminus of the oncogenic protein C-MYC, enhancing the ability of C-MYC to activate E box-dependent transcription. The encoded protein is normally found in the cytoplasm, but it translocates to the nucleus during S phase of the cell cycle and associates with C-MYC. This protein may be involved in spermatogenesis. This gene can be silenced by microRNA-22. Two transcript variants, one protein-coding and the other probably not protein-coding, have been found for this gene. [provided by RefSeq, Nov 2011]

23
ClinVar variants
7
Pathogenic / LP
0.84
pLI score
0
Active trials
Clinical Summary— MYCBP
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.84) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
7 Pathogenic / Likely Pathogenic· 15 VUS of 23 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
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.
0.49LOEUF
pLI 0.845
Z-score 2.29
OE 0.00 (0.00–0.49)
Moderately constrained

More LoF-intolerant than ~75% of genes

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.
0.93Z-score
OE missense 0.63 (0.48–0.85)
32 obs / 50.6 exp
Tolerant

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.0.00 (0.00–0.49)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.63 (0.48–0.85)
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.0.60
0≤1.21.6
LoF obs/exp: 0 / 6.1Missense obs/exp: 32 / 50.6Syn Z: 1.33

ClinVar Variant Classifications

23 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic5
Likely Pathogenic2
VUS15
Likely Benign1
5
Pathogenic
2
Likely Pathogenic
15
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
5
0
5
Likely Pathogenic
0
0
2
0
2
VUS
0
12
3
0
15
Likely Benign
0
0
1
0
1
Benign
0
0
0
0
0
Total01211023

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MYCBP · 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

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Autophagy in the physiological endometrium and cancer.
Devis-Jauregui L et al.·Autophagy
2021Review
USP25-driven KIFC1 regulates MYCBP expression and promotes the progression of cervical cancer.
Ye Z et al.·Cell Death Dis
2025
Upregulation of the long noncoding RNA GJA9-MYCBP and PVT1 is a potential diagnostic biomarker for acute lymphoblastic leukemia.
Shahamiri K et al.·Cancer Rep (Hoboken)
2024
Distinctive role of dysregulated miRNAs in chordoma cancer stem-like cell maintenance.
Tuysuz EC et al.·Exp Cell Res
2019
miR-22 has a potent anti-tumour role with therapeutic potential in acute myeloid leukaemia.
Jiang X et al.·Nat Commun
2016
Genomic profiling of tumor initiating prostatospheres.
Duhagon MA et al.·BMC Genomics
2010
Weighted gene co-expression network analysis identifies specific modules and hub genes related to subsyndromal symptomatic depression.
Geng R et al.·World J Biol Psychiatry
2020
Assessment of gene signatures following the inhibition of IL-23: a study to evaluate the mechanistic effects behind the clinical efficacy of guselkumab in patients with psoriatic arthritis.
Mastrangelo M et al.·Front Immunol
2025Cohort
PLA2G4A Is a Potential Biomarker Predicting Shorter Overall Survival in Patients with Non-M3/NPM1 Wildtype Acute Myeloid Leukemia.
Bai H et al.·DNA Cell Biol
2020Cohort
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools