CBX7 (gene)

Chromobox homolog 7 is a protein that in humans is encoded by the CBX7 gene.[5] The loss of CBX7 gene expression has been shown to correlate with a malignant form of thyroid cancer.[6]

CBX7
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2K1B, 2L12, 2L1B, 3GS2, 4MN3, 5EPJ
Identifiers
Aliases	CBX7, chromobox 7
External IDs	OMIM: 608457 MGI: 1196439 HomoloGene: 65296 GeneCards: CBX7
Gene location (Human) Chr. Chromosome 22 (human)[1] Band 22q13.1 Start 39,120,167 bp[1] End 39,152,680 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15 E1|15 37.85 cM Start 79,915,807 bp[2] End 79,971,119 bp[2]
Gene ontology Molecular function • GO:0001948 protein binding • methylated histone binding • chromatin binding • single-stranded RNA binding Cellular component • nuclear chromatin • PcG protein complex • cell nucleus • nucleoplasm • cytosol • PRC1 complex Biological process • regulation of transcription, DNA-templated • negative regulation of transcription from RNA polymerase II promoter • transcription, DNA-templated • chromatin organization • sebaceous gland development • response to drug Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	23492	52609
Ensembl	ENSG00000100307	ENSMUSG00000053411
UniProt	O95931	Q8VDS3
RefSeq (mRNA)	NM_175709 NM_001346743 NM_001346744	NM_144811
RefSeq (protein)	NP_001333672 NP_001333673 NP_783640 NP_783640.1	NP_659060
Location (UCSC)	Chr 22: 39.12 – 39.15 Mb	Chr 15: 79.92 – 79.97 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Model organisms

Cbx7 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Abnormal[7]
Eye morphology	Normal
Clinical chemistry	Normal
Plasma immunoglobulins	Normal
Haematology	Abnormal[8]
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Tail epidermis wholemount	Abnormal
Skin Histopathology	Normal
Brain histopathology	Normal
Salmonella infection	Normal[9]
Citrobacter infection	Normal[10]
All tests and analysis from[11][12]

Model organisms have been used in the study of CBX7 function. A conditional knockout mouse line, called Cbx7^{tm1a(KOMP)Wtsi}[13][14] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute.[15][16][17] Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[11][18] Twenty six tests were carried out and three significant phenotypes were reported. Homozygous mutant female adults showed a decreased response to stress-induced hyperthermia and had an increased red blood cell count. Animals of both sex had an integument phenotype when tail epidermis was examined.[11]

References

1. GRCh38: Ensembl release 89: ENSG00000100307 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000053411 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Chromobox homolog 7". Retrieved 2011-12-06.
6. Pallante, P.; Federico, A.; Berlingieri, M. T.; Bianco, M.; Ferraro, A.; Forzati, F.; Iaccarino, A.; Russo, M.; Pierantoni, G. M.; Leone, V.; Sacchetti, S.; Troncone, G.; Santoro, M.; Fusco, A. (2008). "Loss of the CBX7 Gene Expression Correlates with a Highly Malignant Phenotype in Thyroid Cancer". Cancer Research. 68 (16): 6770–6778. doi:10.1158/0008-5472.CAN-08-0695. PMID 18701502.
7. "Body temperature data for Cbx7". Wellcome Trust Sanger Institute.
8. "Haematology data for Cbx7". Wellcome Trust Sanger Institute.
9. "Salmonella infection data for Cbx7". Wellcome Trust Sanger Institute.
10. "Citrobacter infection data for Cbx7". Wellcome Trust Sanger Institute.
11. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x.
12. Mouse Resources Portal, Wellcome Trust Sanger Institute.
13. "International Knockout Mouse Consortium". Archived from the original on 2012-03-20. Retrieved 2012-01-05.
14. "Mouse Genome Informatics".
15. Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
16. Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
17. Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
18. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Further reading

• Yap, K. L.; Li, S.; Muñoz-Cabello, A. M.; Raguz, S.; Zeng, L.; Mujtaba, S.; Gil, J. S.; Walsh, M. J.; Zhou, M. M. (2010). "Molecular Interplay of the Non-coding RNA ANRIL and Methylated Histone H3 Lysine 27 by Polycomb CBX7 in Transcriptional Silencing of INK4a". Molecular Cell. 38 (5): 662–674. doi:10.1016/j.molcel.2010.03.021. PMC 2886305. PMID 20541999.
• Federico, A.; Pallante, P.; Bianco, M.; Ferraro, A.; Esposito, F.; Monti, M.; Cozzolino, M.; Keller, S.; Fedele, M.; Leone, V.; Troncone, G.; Chiariotti, L.; Pucci, P.; Fusco, A. (2009). "Chromobox Protein Homologue 7 Protein, with Decreased Expression in Human Carcinomas, Positively Regulates E-Cadherin Expression by Interacting with the Histone Deacetylase 2 Protein". Cancer Research. 69 (17): 7079–7087. doi:10.1158/0008-5472.CAN-09-1542. PMID 19706751.
• Pallante, P.; Terracciano, L.; Carafa, V.; Schneider, S.; Zlobec, I.; Lugli, A.; Bianco, M.; Ferraro, A.; Sacchetti, S.; Troncone, G.; Fusco, A.; Tornillo, L. (2010). "The loss of the CBX7 gene expression represents an adverse prognostic marker for survival of colon carcinoma patients". European Journal of Cancer. 46 (12): 2304–2313. doi:10.1016/j.ejca.2010.05.011. PMID 20542683.
• Zhang, X. W.; Zhang, L.; Qin, W.; Yao, X. H.; Zheng, L. Z.; Liu, X.; Li, J.; Guo, W. J. (2010). "Oncogenic role of the chromobox protein CBX7 in gastric cancer". Journal of Experimental & Clinical Cancer Research. 29 (1): 114. doi:10.1186/1756-9966-29-114. PMC 2933612. PMID 20723236.
• Chi-Kuo Hu, Wei Wang, Julie Brind’Amour et al., (2020). "Vertebrate diapause preserves organisms long term through Polycomb complex members". Science. 367(6480), 870-874 doi:10.1126/science.aaw2601