CBX7 (gene)

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 79,800,008 bp [2] End 79,855,320 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cerebellar vermis Brodmann area 10 frontal pole gastric mucosa middle frontal gyrus pons right coronary artery popliteal artery parietal lobe postcentral gyrus Top expressed in yolk sac spermatocyte cerebellar cortex superior frontal gyrus lip cerebellar vermis thymus subcutaneous adipose tissue habenula spleen More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding methylated histone binding chromatin binding single-stranded RNA binding Cellular component PcG protein complex nucleus nucleoplasm cytosol PRC1 complex Biological process regulation of transcription, DNA-templated negative regulation of transcription by RNA polymerase II transcription, DNA-templated chromatin organization sebaceous gland development 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: 79.8 – 79.86 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

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 MT, Bianco M, Ferraro A, Forzati F, et al. (August 2008). "Loss of the CBX7 gene expression correlates with a highly malignant phenotype in thyroid cancer". Cancer Research. 68 (16): 6770–8. 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. S2CID   85911512.
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 WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, et al. (June 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. 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. S2CID   18872015.
18. van der Weyden L, White JK, Adams DJ, Logan DW (June 2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC   3218837 . PMID   21722353.

Further reading

• Yap KL, Li S, Muñoz-Cabello AM, Raguz S, Zeng L, Mujtaba S, et al. (June 2010). "Molecular interplay of the noncoding RNA ANRIL and methylated histone H3 lysine 27 by polycomb CBX7 in transcriptional silencing of INK4a". Molecular Cell. 38 (5): 662–74. doi:10.1016/j.molcel.2010.03.021. PMC   2886305 . PMID   20541999.
• Federico A, Pallante P, Bianco M, Ferraro A, Esposito F, Monti M, et al. (September 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): 7079–87. doi: 10.1158/0008-5472.CAN-09-1542 . PMID   19706751.
• Pallante P, Terracciano L, Carafa V, Schneider S, Zlobec I, Lugli A, et al. (August 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): 2304–13. doi:10.1016/j.ejca.2010.05.011. PMID   20542683.
• Zhang XW, Zhang L, Qin W, Yao XH, Zheng LZ, Liu X, et al. (August 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.
• Hu CK, Wang W, Brind'Amour J, Singh PP, Reeves GA, Lorincz MC, Alvarado AS, Brunet A (February 2020). "Vertebrate diapause preserves organisms long term through Polycomb complex members". Science. 367 (6480): 870–874. Bibcode:2020Sci...367..870H. doi:10.1126/science.aaw2601. PMC   7532943 . PMID   32079766.