CBX7: Chromobox Protein 7 – A Key Regulator in Cancer and Stem Cell Biology

Comprehensive genomic and functional overview of CBX7, a Polycomb group protein involved in transcriptional repression, cellular senescence, and tumor suppression.

Gene Information Card

Symbol CBX7
Full Name Chromobox 7
Gene Type Protein coding
Chromosomal Location 22q13.1
NCBI Gene ID 23492 ncbi.nlm.nih.gov/gene/23492
Ensembl ID ENSG00000100330
UniProt ID O95931
OMIM ID 606452
HGNC ID 1557
Aliases PC2, MGC1387

Description

CBX7 (Chromobox 7) encodes a component of the Polycomb repressive complex 1 (PRC1). It binds histone H3 trimethylated at lysine 27 (H3K27me3) via its chromodomain and contributes to transcriptional repression of target genes involved in development, differentiation, and senescence. CBX7 is frequently downregulated in various cancers and acts as a tumor suppressor by promoting cellular senescence and inhibiting epithelial-mesenchymal transition.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Prostate cancer Loss of CBX7 expression leads to derepression of oncogenic pathways and increased proliferation. PMID: 19029980
Lung cancer Reduced CBX7 levels correlate with poor prognosis and enhanced metastatic potential. PMID: 23382210
Breast cancer CBX7 silencing promotes invasion and stemness via PRC1-mediated chromatin changes. PMID: 25609812
Gastric cancer CBX7 downregulation is associated with advanced tumor stage and lymph node metastasis. PMID: 27058793
Colorectal cancer CBX7 loss contributes to Wnt/β-catenin pathway activation and tumor progression. PMID: 27562873

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Thyroid 10.2 Medium
Prostate 8.9 Medium
Lung 6.3 Low
Breast 5.1 Low
Colon 4.8 Low
Cell Line Expression
Cell Line nTPM Notes
MCF7 (breast cancer) 7.2 Moderate expression
A549 (lung cancer) 5.8 Low expression
PC3 (prostate cancer) 4.1 Low expression
HEK293 (embryonic kidney) 9.5 High expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1?) Missense <0.1% Likely loss of start codon; predicted loss of function
c.325C>T (p.Arg109Trp) Missense 0.2% Located in chromodomain; may impair H3K27me3 binding
c.487G>A (p.Gly163Arg) Missense 0.1% Unknown significance; rare in population databases
Mutation functional classification

Loss of Function (LOF)

Frameshift or nonsense mutations leading to truncated protein or nonsense-mediated decay; also missense mutations in the chromodomain that disrupt histone binding.

Gain of Function (GOF)

Not well documented; no recurrent activating mutations reported in COSMIC or ClinVar.

Dominant Negative (DN)

Hypothesized for certain missense variants that retain dimerization but lose chromatin binding, though not experimentally validated.

Pathways

• Polycomb repressive complex (PRC1) – hsa:04110
• Transcriptional misregulation in cancer – hsa:05202
• Cellular senescence – hsa:04218

Protein Summary

CBX7 is a 251-amino acid protein containing an N-terminal chromodomain that recognizes H3K27me3 and a C-terminal Polycomb box (PC box) mediating interaction with other PRC1 components. It is predominantly nuclear and functions in transcriptional repression of genes such as INK4a/ARF, thereby regulating senescence and stem cell self-renewal. CBX7 is also implicated in RNA splicing and DNA damage response.

Related Products

Product name Cat.No. Species Gene ID
CBX7 Knockout HEK293 Cell Line EDJ-KQ2997 Human 23492 Details Get a Quote
CBX7 Knockout A-549 Cell Line EDJ-KQ24190 Human 23492 Details Get a Quote
CBX7 Knockout HCT 116 Cell Line EDJ-KQ24191 Human 23492 Details Get a Quote
CBX7 Knockout HeLa Cell Line EDJ-KQ24192 Human 23492 Details Get a Quote
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