BBX (gene)

Bobby sox homolog (Drosophila)
Identifiers
Symbols	BBX; ARTC1; HBP2; HSPC339; MDS001
External IDs	HomoloGene: 10634 GeneCards: BBX Gene
Gene Ontology Molecular function • DNA binding Cellular component • nucleus Biological process • transcription, DNA-dependent • regulation of transcription, DNA-dependent Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	56987	70508
Ensembl	ENSG00000114439	ENSMUSG00000022641
UniProt	Q8WY36	Q8VBW5
RefSeq (mRNA)	NM_001142568	NM_027444
RefSeq (protein)	NP_001136040	NP_081720
Location (UCSC)	Chr 3: 107.24 – 107.53 Mb	Chr 16: 50.19 – 50.43 Mb
PubMed search	[1]	[2]

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.

Model organisms

Bbx 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	Abnormal
Radiography	Abnormal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Plasma immunoglobulins	Abnormal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Abnormal
Tail epidermis wholemount	Normal
Skin Histopathology	Normal
Brain histopathology	Normal
Salmonella infection	Normal
Citrobacter infection	Normal
All tests and analysis from

Model organisms have been used in the study of BBX function. A conditional knockout mouse line, called Bbx^{tm1a(EUCOMM)Wtsi} 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.

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty six tests were carried out on homozygous mutant adult mice and four significant abnormalities were observed. A study of body composition found decreases in 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.

Further reading

• Caporaso N, Gu F, Chatterjee N, et al. (2009). "Genome-wide and candidate gene association study of cigarette smoking behaviors.". PLoS ONE 4 (2): e4653. doi:10.1371/journal.pone.0004653. PMC 2644817. PMID 19247474. 
• Wang HY, Peng G, Guo Z, et al. (2005). "Recognition of a new ARTC1 peptide ligand uniquely expressed in tumor cells by antigen-specific CD4+ regulatory T cells.". J. Immunol. 174 (5): 2661–70. PMID 15728473. 
• Trynka G, Zhernakova A, Romanos J, et al. (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. 
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. 
• Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548. 
• Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction.". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474. 
• S?nchez-D?az A, Blanco MA, Jones N, Moreno S (2001). "HBP2: a new mammalian protein that complements the fission yeast MBF transcription complex.". Curr. Genet. 40 (2): 110–8. PMID 11680820.