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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CBX6
chromobox 6
Chromosome 22 · 22q13.1
NCBI Gene: 23466Ensembl: ENSG00000183741.12HGNC: HGNC:1556UniProt: B0QXZ6
42PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nuclear bodyPcG protein complexnegative regulation of transcription by RNA polymerase IInucleusatrial fibrillationhepatocellular carcinomaneoplasmluminal A breast carcinoma
✦AI Summary

CBX6 (chr22 6) is a component of the Polycomb Repressive Complex 1 (PRC1) that functions as an epigenetic regulator of gene transcription 1. As part of PRC1, CBX6 recognizes H3K27me3 histone marks and contributes to transcriptional repression through chr22 remodeling and histone H2A monoubiquitination 1. The protein exhibits tumor suppressor functions in several cancer types, with downregulation observed in breast cancer, prostate cancer, and glioblastoma 234. In breast cancer, CBX6 is negatively regulated by EZH2 and its overexpression inhibits cell proliferation, migration, and invasion 2. Similarly, in glioblastoma, CBX6 downregulation under hypoxic conditions promotes tumor aggressiveness and directly regulates CA9 expression through promoter binding 4. In mesothelioma, proteasomal degradation of CBX6 leads to increased MMP-2 expression and enhanced invasiveness 5. CBX6 has emerged as a potential biomarker for various conditions, including renal ischemia/reperfusion injury and abdominal aortic aneurysm 67. Clinically, CBX6 expression correlates with tumor grade and patient survival outcomes across multiple cancer types, suggesting its potential utility as both a prognostic marker and therapeutic target 34.

Sources cited
1
CBX6 is a PRC1 component that recognizes H3K27me3 marks and functions in transcriptional repression
PMID: 32979540
2
CBX6 acts as tumor suppressor in breast cancer, is negatively regulated by EZH2, and inhibits proliferation and invasion
PMID: 30655550
3
CBX6 is downregulated in prostate cancer and correlates with patient outcomes
PMID: 38427207
4
CBX6 downregulation in glioblastoma under hypoxic conditions promotes aggressiveness and directly regulates CA9
PMID: 41883712
5
Proteasomal degradation of CBX6 in mesothelioma increases MMP-2 expression and invasiveness
PMID: 33028834
6
CBX6 identified as potential biomarker in renal ischemia/reperfusion injury
PMID: 38452983
7
CBX6 identified as key biomarker in abdominal aortic aneurysm with downregulated expression
PMID: 39602349
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.20Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.09Suggestive
luminal A breast carcinomaOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
esophageal squamous cell carcinomaOpen Targets
0.08Suggestive
glioblastoma multiformeOpen Targets
0.06Suggestive
mesotheliomaOpen Targets
0.05Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.05Suggestive
diffuse large B-cell lymphomaOpen Targets
0.04Suggestive
chronic myelogenous leukemiaOpen Targets
0.04Suggestive
bladder transitional cell carcinomaOpen Targets
0.04Suggestive
lipodystrophy, familial partial, type 8Open Targets
0.04Suggestive
achalasia-alacrima syndromeOpen Targets
0.03Suggestive
congenital generalized lipodystrophy type 3Open Targets
0.03Suggestive
Generalized congenital lipodystrophy with myopathyOpen Targets
0.03Suggestive
hyperinsulinemic hypoglycemia, familial, 8Open Targets
0.03Suggestive
glycogen storage disease VIOpen Targets
0.03Suggestive
hyperinsulinism due to INSR deficiencyOpen Targets
0.03Suggestive
3-methylcrotonyl-CoA carboxylase deficiencyOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
H2AL3Shared pathway100%H2AC21Shared pathway100%H2AC1Shared pathway100%H2AC12Shared pathway100%L3MBTL2Shared pathway100%BCORL1Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
90%
Ovary
54%
Heart
50%
Lung
42%
Liver
14%
Gene Interaction Network
Click a node to explore
CBX6H2AL3H2AC21H2AC1H2AC12L3MBTL2BCORL1
PROTEIN STRUCTURE
Preparing viewer…
PDB3GV6 · 1.76 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.58Moderately Constrained
pLIⓘ
0.88Intermediate
Observed/Expected LoF0.31 [0.18–0.58]
RankingsWhere CBX6 stands among ~20K protein-coding genes
  • #9,844of 20,598
    Most Researched42
  • #3,913of 17,882
    Most Constrained (LOEUF)0.58 · top quartile
Genes detectedCBX6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Biological functions of chromobox (CBX) proteins in stem cell self-renewal, lineage-commitment, cancer and development.
PMID: 32979540
Bone · 2021
1.00
2
Identification of CCR7 and CBX6 as key biomarkers in abdominal aortic aneurysm: Insights from multi-omics data and machine learning analysis.
PMID: 39602349
IET Syst Biol · 2024
0.90
3
The predictive significance of chromobox family members in prostate cancer in humans.
PMID: 38427207
Cell Oncol (Dordr) · 2024
0.80
4
KMT2A-rearranged sarcoma with unusual fusion gene CBX6::KMT2A::PYGO1.
PMID: 37713130
Virchows Arch · 2023
0.70
5
CBX6 is negatively regulated by EZH2 and plays a potential tumor suppressor role in breast cancer.
PMID: 30655550
Sci Rep · 2019
0.60