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Gene Review

BBS2  -  Bardet-Biedl syndrome 2

Homo sapiens

Synonyms: Bardet-Biedl syndrome 2 protein
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Disease relevance of BBS2


Psychiatry related information on BBS2


High impact information on BBS2


Chemical compound and disease context of BBS2


Biological context of BBS2

  • To delineate functionally important regions in BBS2, we performed phylogenetic and genomic studies in which we used the human and zebrafish BBS2 peptide sequences to search dbEST and the translation of the draft human genome [14].
  • Features of systemic phenotypic variability were proposed to distinguish patients mapped to either the BBS2, BBS3, or BBS4 loci but no phenotype-genotype correlation has been established for the ocular phenotype [15].
  • Here we report the identification of the gene BBS1 and show that a missense mutation of this gene is a frequent cause of BBS [2].
  • In the majority of northern European families with BBS, the syndrome is linked to a 26-cM region on chromosome 11q13 [16].
  • To date, four of the five known BBS loci have been implicated in this mode of oligogenic disease transmission [17].

Anatomical context of BBS2

  • Bardet-Biedl syndrome (BBS) is a pleiotropic genetic disorder with the cardinal features of obesity, photoreceptor degeneration, polydactyly, hypogenitalism, renal abnormalities, and developmental delay [18].
  • However, uterine, ovarian, and fallopian tube anomalies are more common in BBS patients, and it may be that these clinical features prove to be useful discriminating features [19].
  • Our data indicate that BBS proteins have a role in the microtubule organization of mammalian ciliated cells and that anosmia might be a useful determinant of other pleiotropic disorders with a suspected ciliary involvement [11].
  • These studies are the first to comprehensively compare the diverse group of BBS genes in parallel and demonstrate a common role in intracellular trafficking, indicating that BBS proteins are involved in general organelle trafficking [20].
  • The restricted tissue distribution of BBS6 further suggests that it may play important roles in ciliated epithelial tissues, which is consistent with the probable functions of BBS proteins in basal bodies (modified centrioles) and cilia [21].

Associations of BBS2 with chemical compounds

  • The increase in plasma concentration of nitrate and nitrite was inhibited by BBS-2 [22].
  • The mean number of days of BBS/cycle for ORTHO TRI-CYCLEN Lo and ORTHO TRI-CYCLEN was 3.7 and 3.1, respectively, for those subjects with such bleeding [12].
  • In addition, the mechanism leading to alkalinization (7.56 +/- 0.05) in Cl(-)-free BBS was identified as Na(+)-dependent Cl-/HCO3- exchange, by its H2DIDS sensitivity and the specific requirement for Cl- and Na+ [23].
  • BBS Plus is a modified glutathione-bicarbonate-Ringer's solution which contains the necessary ions, buffers, and substrates for maintenance of normal cellular metabolism, function, and structural integrity when used as a perfusate during ophthalmic surgical procedures [24].
  • In this work, a combination of experimental and quantum mechanical investigations is performed for the study of dichroic absorption properties of melt-processed linear low-density polyethylene (LLDPE) oriented films containing < or =0.5 wt % of either 4,4'-bis(2-benzoxazolyl)stilbene (BBS) or 2,5-bis(5-tert-butyl-2-benzoxazolyl)thiophene (BTBBT) [25].

Co-localisations of BBS2

  • MGC1203 encodes a pericentriolar protein that interacts and colocalizes with the BBS proteins [26].

Other interactions of BBS2

  • The BBS6 protein has similarity to a Thermoplasma acidophilum chaperonin, whereas BBS2 and BBS4 have no significant similarity to chaperonins [2].
  • In addition, we recently used positional cloning to identify the genes underlying BBS2 (ref. 16) and BBS4 (ref. 17) [2].
  • Six families were excluded from all four known BBS loci, indicating that there is at least a fifth BBS locus (BBS5) [27].
  • The phenotype of Bardet-Biedl syndrome (BBS) is defined by the association of retinitis pigmentosa, obesity, polydactyly, hypogenitalism, renal disease and cognitive impairement [28].
  • The chromosomal localization and expression pattern of KIFC3 suggest that it may be an excellent candidate for families linked to BBS2 [29].

Analytical, diagnostic and therapeutic context of BBS2


  1. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Mykytyn, K., Braun, T., Carmi, R., Haider, N.B., Searby, C.C., Shastri, M., Beck, G., Wright, A.F., Iannaccone, A., Elbedour, K., Riise, R., Baldi, A., Raas-Rothschild, A., Gorman, S.W., Duhl, D.M., Jacobson, S.G., Casavant, T., Stone, E.M., Sheffield, V.C. Nat. Genet. (2001) [Pubmed]
  2. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Mykytyn, K., Nishimura, D.Y., Searby, C.C., Shastri, M., Yen, H.J., Beck, J.S., Braun, T., Streb, L.M., Cornier, A.S., Cox, G.F., Fulton, A.B., Carmi, R., Lüleci, G., Chandrasekharappa, S.C., Collins, F.S., Jacobson, S.G., Heckenlively, J.R., Weleber, R.G., Stone, E.M., Sheffield, V.C. Nat. Genet. (2002) [Pubmed]
  3. Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Karmous-Benailly, H., Martinovic, J., Gubler, M.C., Sirot, Y., Clech, L., Ozilou, C., Auge, J., Brahimi, N., Etchevers, H., Detrait, E., Esculpavit, C., Audollent, S., Goudefroye, G., Gonzales, M., Tantau, J., Loget, P., Joubert, M., Gaillard, D., Jeanne-Pasquier, C., Delezoide, A.L., Peter, M.O., Plessis, G., Simon-Bouy, B., Dollfus, H., Le Merrer, M., Munnich, A., Encha-Razavi, F., Vekemans, M., Attié-Bitach, T. Am. J. Hum. Genet. (2005) [Pubmed]
  4. Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Mykytyn, K., Nishimura, D.Y., Searby, C.C., Beck, G., Bugge, K., Haines, H.L., Cornier, A.S., Cox, G.F., Fulton, A.B., Carmi, R., Iannaccone, A., Jacobson, S.G., Weleber, R.G., Wright, A.F., Riise, R., Hennekam, R.C., Lüleci, G., Berker-Karauzum, S., Biesecker, L.G., Stone, E.M., Sheffield, V.C. Am. J. Hum. Genet. (2003) [Pubmed]
  5. Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. Mykytyn, K., Mullins, R.F., Andrews, M., Chiang, A.P., Swiderski, R.E., Yang, B., Braun, T., Casavant, T., Stone, E.M., Sheffield, V.C. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  6. Energy metabolism in Bardet-Biedl syndrome. Grace, C., Beales, P., Summerbell, C., Jebb, S.A., Wright, A., Parker, D., Kopelman, P. Int. J. Obes. Relat. Metab. Disord. (2003) [Pubmed]
  7. Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene. Iannaccone, A., Mykytyn, K., Persico, A.M., Searby, C.C., Baldi, A., Jablonski, M.M., Sheffield, V.C. Am. J. Med. Genet. A (2005) [Pubmed]
  8. Accessing the Internet. Guidelines for beginners and mental health resources for experts. II. The next step. How to access mental health resources on the Internet and on BBS. Miller, M.J. Behavioral healthcare tomorrow. (1994) [Pubmed]
  9. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Stoetzel, C., Laurier, V., Davis, E.E., Muller, J., Rix, S., Badano, J.L., Leitch, C.C., Salem, N., Chouery, E., Corbani, S., Jalk, N., Vicaire, S., Sarda, P., Hamel, C., Lacombe, D., Holder, M., Odent, S., Holder, S., Brooks, A.S., Elcioglu, N.H., Da Silva, E., Rossillion, B., Sigaudy, S., de Ravel, T.J., Alan Lewis, R., Leheup, B., Verloes, A., Amati-Bonneau, P., Mégarbané, A., Poch, O., Bonneau, D., Beales, P.L., Mandel, J.L., Katsanis, N., Dollfus, H. Nat. Genet. (2006) [Pubmed]
  10. The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. Kim, J.C., Badano, J.L., Sibold, S., Esmail, M.A., Hill, J., Hoskins, B.E., Leitch, C.C., Venner, K., Ansley, S.J., Ross, A.J., Leroux, M.R., Katsanis, N., Beales, P.L. Nat. Genet. (2004) [Pubmed]
  11. Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Kulaga, H.M., Leitch, C.C., Eichers, E.R., Badano, J.L., Lesemann, A., Hoskins, B.E., Lupski, J.R., Beales, P.L., Reed, R.R., Katsanis, N. Nat. Genet. (2004) [Pubmed]
  12. Efficacy, safety and cycle control of five oral contraceptive regimens containing norgestimate and ethinyl estradiol. LaGuardia, K.D., Shangold, G., Fisher, A., Friedman, A., Kafrissen, M. Contraception. (2003) [Pubmed]
  13. Artificial baroreflex: clinical application of a bionic baroreflex system. Yamasaki, F., Ushida, T., Yokoyama, T., Ando, M., Yamashita, K., Sato, T. Circulation (2006) [Pubmed]
  14. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Badano, J.L., Ansley, S.J., Leitch, C.C., Lewis, R.A., Lupski, J.R., Katsanis, N. Am. J. Hum. Genet. (2003) [Pubmed]
  15. Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. Héon, E., Westall, C., Carmi, R., Elbedour, K., Panton, C., Mackeen, L., Stone, E.M., Sheffield, V.C. Am. J. Med. Genet. A (2005) [Pubmed]
  16. A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM. Young, T.L., Woods, M.O., Parfrey, P.S., Green, J.S., Hefferton, D., Davidson, W.S. Am. J. Hum. Genet. (1999) [Pubmed]
  17. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Beales, P.L., Badano, J.L., Ross, A.J., Ansley, S.J., Hoskins, B.E., Kirsten, B., Mein, C.A., Froguel, P., Scambler, P.J., Lewis, R.A., Lupski, J.R., Katsanis, N. Am. J. Hum. Genet. (2003) [Pubmed]
  18. Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome. Sheffield, V.C. Pediatr. Res. (2004) [Pubmed]
  19. Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review. Slavotinek, A.M., Biesecker, L.G. Am. J. Med. Genet. (2000) [Pubmed]
  20. Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Yen, H.J., Tayeh, M.K., Mullins, R.F., Stone, E.M., Sheffield, V.C., Slusarski, D.C. Hum. Mol. Genet. (2006) [Pubmed]
  21. MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis. Kim, J.C., Ou, Y.Y., Badano, J.L., Esmail, M.A., Leitch, C.C., Fiedrich, E., Beales, P.L., Archibald, J.M., Katsanis, N., Rattner, J.B., Leroux, M.R. J. Cell. Sci. (2005) [Pubmed]
  22. The inhibition of inducible nitric oxide synthase in ovine sepsis model. Enkhbaatar, P., Murakami, K., Traber, L.D., Cox, R., Parkinson, J.F., Westphal, M., Esechie, A., Morita, N., Maybauer, M.O., Maybauer, D.M., Burke, A.S., Schmalstieg, F.C., Hawkins, H.K., Herndon, D.N., Traber, D.L. Shock (2006) [Pubmed]
  23. Intracellular pH regulation of human colonic crypt cells. Teleky, B., Hamilton, G., Cosentini, E., Bischof, G., Riegler, M., Koperna, T., Feil, W., Schiessel, R., Wenzl, E. Pflugers Arch. (1994) [Pubmed]
  24. Safety evaluation of BSS plus in pediatric intraocular surgery. Burke, M.J., Parks, M.M., Calhoun, J.H., Diamond, J.G., deFaller, J.M. Journal of pediatric ophthalmology and strabismus. (1981) [Pubmed]
  25. Dichroic properties of bis(benzoxazolyl)stilbene and bis(benzoxazolyl)thiophene dispersed into oriented polyethylene films: a combined experimental and density functional theory approach. Pucci, A., Cappelli, C., Bronco, S., Ruggeri, G. The journal of physical chemistry. B, Condensed matter, materials, surfaces, interfaces & biophysical. (2006) [Pubmed]
  26. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Badano, J.L., Leitch, C.C., Ansley, S.J., May-Simera, H., Lawson, S., Lewis, R.A., Beales, P.L., Dietz, H.C., Fisher, S., Katsanis, N. Nature (2006) [Pubmed]
  27. Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus. Woods, M.O., Young, T.L., Parfrey, P.S., Hefferton, D., Green, J.S., Davidson, W.S. Genomics (1999) [Pubmed]
  28. Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Hichri, H., Stoetzel, C., Laurier, V., Caron, S., Sigaudy, S., Sarda, P., Hamel, C., Martin-Coignard, D., Gilles, M., Leheup, B., Holder, M., Kaplan, J., Bitoun, P., Lacombe, D., Verloes, A., Bonneau, D., Perrin-Schmitt, F., Brandt, C., Besancon, A.F., Mandel, J.L., Cossée, M., Dollfus, H. Eur. J. Hum. Genet. (2005) [Pubmed]
  29. Cloning of a novel C-terminal kinesin (KIFC3) that maps to human chromosome 16q13-q21 and thus is a candidate gene for Bardet-Biedl syndrome. Hoang, E.H., Whitehead, J.L., Dosé, A.C., Burnside, B. Genomics (1998) [Pubmed]
  30. A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome? Slavotinek, A.M., Dutra, A., Kpodzo, D., Pak, E., Nakane, T., Turner, J., Whiteford, M., Biesecker, L.G., Stratton, P. Am. J. Med. Genet. A (2004) [Pubmed]
  31. Plasmolipin: genomic structure, chromosomal localization, protein expression pattern, and putative association with Bardet-Biedl syndrome. Hamacher, M., Pippirs, U., Köhler, A., Müller, H.W., Bosse, F. Mamm. Genome (2001) [Pubmed]
  32. Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome. Beales, P.L., Reid, H.A., Griffiths, M.H., Maher, E.R., Flinter, F.A., Woolf, A.S. Nephrol. Dial. Transplant. (2000) [Pubmed]
  33. Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport. Blacque, O.E., Leroux, M.R. Cell. Mol. Life Sci. (2006) [Pubmed]
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