CBX7

Chr 22

chromobox 7

NCBI Gene: 23492ENSG00000100307UniProt: O95931

This gene encodes a protein that contains the CHROMO (CHRomatin Organization MOdifier) domain. The encoded protein is a component of the Polycomb repressive complex 1 (PRC1), and is thought to control the lifespan of several normal human cells. [provided by RefSeq, Oct 2016]

50
ClinVar variants
14
Pathogenic / LP
0.69
pLI score
0
Active trials
Clinical Summary— CBX7
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.69) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
14 Pathogenic / Likely Pathogenic· 33 VUS of 50 total submissions
Some data sources returned errors (2)

clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi

clinvarCount: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

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.
0.51LOEUF
pLI 0.685
Z-score 2.75
OE 0.16 (0.07–0.51)
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.
1.30Z-score
OE missense 0.70 (0.60–0.83)
108 obs / 153.5 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.0.16 (0.07–0.51)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.70 (0.60–0.83)
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.1.06
0≤1.21.6
LoF obs/exp: 2 / 12.5Missense obs/exp: 108 / 153.5Syn Z: -0.38

ClinVar Variant Classifications

50 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic14
VUS33
Likely Benign3
14
Pathogenic
33
VUS
3
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
14
0
14
Likely Pathogenic
0
0
0
0
0
VUS
0
30
3
0
33
Likely Benign
0
2
0
1
3
Benign
0
0
0
0
0
Total03217150

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

View in ClinVar →

Protein Context — Lollipop Plot

CBX7 · 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
CHROMOBOX 7; CBX7
MIM #608457 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Epigenetic regulation by polycomb repressive complex 1 promotes cerebral cavernous malformations.
Pham VC et al.·EMBO Mol Med
2024
Expression and correlation analysis of Skp2 and CBX7 in cervical cancer.
Maimaitirexiati G et al.·J Clin Pathol
2022
Genome-wide association study reveals CBX7 as a novel susceptibility gene associated with primary spontaneous pneumothorax in the Chinese Han population.
Xu L et al.·Eur Respir J
2025
Subcellular expression pattern and clinical significance of CBX2 and CBX7 in breast cancer subtypes.
Park S et al.·Med Mol Morphol
2024
CBX7 suppresses urinary bladder cancer progression via modulating AKR1B10-ERK signaling.
Huang Z et al.·Cell Death Dis
2021
CBX7 reprograms metabolic flux to protect against meningioma progression by modulating the USP44/c-MYC/LDHA axis.
Cheng H et al.·J Mol Cell Biol
2024
CBX7 modulates the expression of genes critical for cancer progression.
Pallante P et al.·PLoS One
2014
Mammalian CBX7 isoforms p36 and p22 exhibit differential responses to serum, varying functions for proliferation, and distinct subcellular localization.
Cho KW et al.·Sci Rep
2020
CBX7 binds the E-box to inhibit TWIST-1 function and inhibit tumorigenicity and metastatic potential.
Li J et al.·Oncogene
2020
CBX7 regulates stem cell-like properties of gastric cancer cells via p16 and AKT-NF-κB-miR-21 pathways.
Ni SJ et al.·J Hematol Oncol
2018
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
CBX7 functions as a methylation-dependent inducer of gene transcription and regulator of cytosolic signaling in lymphoid cells.
Sirohi K et al.·Sci Adv
2026🔓 Open Access
Histone H3.3 phosphorylation facilitates H3K9me3-heterochromatin formation during retrotransposon silencing and X-chromosome inactivation via H3.3K27me3-CBX7-KAP1 axis.
Chen J et al.·Sci Bull (Beijing)
2026
CBX7 regulates chemotherapy-induced senescence-like growth arrest in multiple myeloma via the ERK/STAT3/PIM1 axis.
Ding Y et al.·J Transl Med
2025🔓 Open Access
Engineered Multifunctional Hydrogel Delivering Novel CBX7 Inhibitor Modulates Cuproptosis Via Liquid-Liquid Phase Separation to Restore Cardiac Function in Aged Myocardial Infarction.
Liu J et al.·Adv Sci (Weinh)
2026🔓 Open AccessFunctional
Chromobox protein homolog 7 (CBX7) deficiency inhibits osteoblast ferroptosis by activating the Nrf2 function in type 2 diabetic osteoporosis.
Du Y et al.·Int J Biochem Cell Biol
2025
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