BBX Available structures PDB Ortholog search: PDBe RCSB
Identifiers Aliases BBX External IDs MGI : 1917758 HomoloGene : 10634 GeneCards : BBX Gene location (Human ) Chr. Chromosome 3 (human) [1] Band 3q13.12 Start 107,522,936 bp [1] End 107,811,324 bp [1]
Gene location (Mouse ) Chr. Chromosome 16 (mouse)[2] Band 16|16 B5 Start 50,012,207 bp [2] End 50,252,753 bp [2]
Gene ontology Molecular function Cellular component Biological process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez Ensembl UniProt RefSeq (mRNA) RefSeq (protein) Location (UCSC) Chr 3: 107.52 – 107.81 Mb Chr 16: 50.01 – 50.25 Mb PubMed search[3] [4] Wikidata
HMG box transcription factor BBX also known as bobby sox homolog or HMG box-containing protein 2 is a protein that in humans is encoded by the BBX gene .[5]
Model organisms [ ]
Bbx knockout mouse phenotype
Characteristic
Phenotype
Homozygote viabilityNormal
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 Abnormal[6]
Radiography Abnormal[7]
Body temperature
Normal
Eye morphology
Normal
Clinical chemistry Normal
Plasma immunoglobulins Abnormal
Haematology Normal[8]
Peripheral blood lymphocytes Normal
Micronucleus test Normal
Heart weight
Abnormal[9]
Tail epidermis wholemount
Normal
Skin Histopathology
Normal
Brain histopathology
Normal
Salmonella Normal[10]
Citrobacter Normal[11]
All tests and analysis from[12] [13]
Model organisms have been used in the study of BBX function. A conditional knockout mouse line, called Bbxtm1a(EUCOMM)Wtsi [14] [15] International Knockout Mouse Consortium program, a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[16] [17] [18]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[12] [19] homozygous mutant adult mice and four significant abnormalities were observed.[12] bone mineral density and content, and a reduction in body length in female mice, while mutants of both sexes showed a reduction in lean body mass . Radiography found that males had abnormal teeth morphology. Females had a decreased heart weight, and both sexes had reduced IgA levels in their plasma.[12]
References [ ]
^ a b c GRCh38: Ensembl release 89: ENSG00000114439 - Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022641 - Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Entrez Gene: bobby sox homolog (Drosophila)" . Retrieved 2011-08-30 .^ "DEXA data for Bbx" . Wellcome Trust Sanger Institute.^ "Radiography data for Bbx" . Wellcome Trust Sanger Institute.^ "Haematology data for Bbx" . Wellcome Trust Sanger Institute.^ "Heart weight data for Bbx" . Wellcome Trust Sanger Institute.^ "Salmonella infection data for Bbx" . Wellcome Trust Sanger Institute.^ "Citrobacter infection data for Bbx" . Wellcome Trust Sanger Institute.^ a b c d 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 . ^ Mouse Resources Portal , Wellcome Trust Sanger Institute.^ "International Knockout Mouse Consortium" . Archived from the original on 2012-03-20. Retrieved 2012-01-06 .^ "Mouse Genome Informatics" .^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 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 . ^ Dolgin E (Jun 2011). "Mouse library set to be knockout" . Nature . 474 (7351): 262–3. doi :10.1038/474262a PMID 21677718 . ^ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons" . Cell . 128 (1): 9–13. doi :10.1016/j.cell.2006.12.018 PMID 17218247 . S2CID 18872015 . ^ van der Weyden L, White JK, Adams DJ, Logan DW (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 .
External links [ ] Human BBX BBX UCSC Genome Browser . Further reading [ ]
Caporaso N, Gu F, Chatterjee N, Sheng-Chih J, Yu K, Yeager M, Chen C, Jacobs K, Wheeler W, Landi MT, Ziegler RG, Hunter DJ, Chanock S, Hankinson S, Kraft P, Bergen AW (2009). "Genome-wide and candidate gene association study of cigarette smoking behaviors" . PLOS ONE . 4 (2): e4653. Bibcode :2009PLoSO...4.4653C . doi :10.1371/journal.pone.0004653 PMC 2644817 PMID 19247474 . Wang HY, Peng G, Guo Z, Shevach EM, Wang RF (Mar 2005). "Recognition of a new ARTC1 peptide ligand uniquely expressed in tumor cells by antigen-specific CD4+ regulatory T cells" . Journal of Immunology . 174 (5): 2661–70. doi :10.4049/jimmunol.174.5.2661 PMID 15728473 . Trynka G, Zhernakova A, Romanos J, Franke L, Hunt KA, Turner G, Bruinenberg M, Heap GA, Platteel M, Ryan AW, de Kovel C, Holmes GK, Howdle PD, Walters JR, Sanders DS, Mulder CJ, Mearin ML, Verbeek WH, Trimble V, Stevens FM, Kelleher D, Barisani D, Bardella MT, McManus R, van Heel DA, Wijmenga C (Aug 2009). "Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling" . Gut . 58 (8): 1078–83. doi :10.1136/gut.2008.169052 . PMID 19240061 . S2CID 17111427 . Bonaldo MF, Lennon G, Soares MB (Sep 1996). "Normalization and subtraction: two approaches to facilitate gene discovery" . Genome Research . 6 (9): 791–806. doi :10.1101/gr.6.9.791 PMID 8889548 . Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (Apr 1996). "A "double adaptor" method for improved shotgun library construction". Analytical Biochemistry . 236 (1): 107–13. doi :10.1006/abio.1996.0138 . PMID 8619474 . Sánchez-Díaz A, Blanco MA, Jones N, Moreno S (Sep 2001). "HBP2: a new mammalian protein that complements the fission yeast MBF transcription complex". Current Genetics . 40 (2): 110–8. doi :10.1007/s002940100241 . PMID 11680820 . S2CID 30444254 .
