SBDS

Shwachman-Bodian-Diamond syndrome
Identifiers
Symbols	SBDS ; SDS; CGI-97; FLJ10917; SWDS
External IDs	Template:OMIM5 Template:MGI HomoloGene: 6438
Gene ontology
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Shwachman-Bodian-Diamond syndrome, also known as SBDS, is a human gene.

This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located.

Further reading

• Lai CH, Chou CY, Ch'ang LY; et al. (2000). "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics". Genome Res. 10 (5): 703–13. PMID 10810093.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Popovic M, Goobie S, Morrison J; et al. (2002). "Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene". Eur. J. Hum. Genet. 10 (4): 250–8. doi:10.1038/sj.ejhg.5200798. PMID 12032733.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Boocock GR, Morrison JA, Popovic M; et al. (2003). "Mutations in SBDS are associated with Shwachman-Diamond syndrome". Nat. Genet. 33 (1): 97–101. doi:10.1038/ng1062. PMID 12496757.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nakashima E, Mabuchi A, Makita Y; et al. (2004). "Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome". Hum. Genet. 114 (4): 345–8. doi:10.1007/s00439-004-1081-2. PMID 14749921.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Woloszynek JR, Rothbaum RJ, Rawls AS; et al. (2004). "Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome". Blood. 104 (12): 3588–90. doi:10.1182/blood-2004-04-1516. PMID 15284109.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Andersen JS, Lam YW, Leung AK; et al. (2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. doi:10.1038/nature03207. PMID 15635413.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kuijpers TW, Alders M, Tool AT; et al. (2005). "Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship". Blood. 106 (1): 356–61. doi:10.1182/blood-2004-11-4371. PMID 15769891.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Austin KM, Leary RJ, Shimamura A (2005). "The Shwachman-Diamond SBDS protein localizes to the nucleolus". Blood. 106 (4): 1253–8. doi:10.1182/blood-2005-02-0807. PMID 15860664.CS1 maint: Multiple names: authors list (link)
• Kawakami T, Mitsui T, Kanai M; et al. (2005). "Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations". Tohoku J. Exp. Med. 206 (3): 253–9. PMID 15942154.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Boocock GR, Marit MR, Rommens JM (2006). "Phylogeny, sequence conservation, and functional complementation of the SBDS protein family". Genomics. 87 (6): 758–71. doi:10.1016/j.ygeno.2006.01.010. PMID 16529906.CS1 maint: Multiple names: authors list (link)
• Erdos M, Alapi K, Balogh I; et al. (2007). "Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene". Exp. Hematol. 34 (11): 1517–21. doi:10.1016/j.exphem.2006.06.009. PMID 17046571.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nishimura G, Nakashima E, Hirose Y; et al. (2007). "The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type". J. Med. Genet. 44 (4): e73. doi:10.1136/jmg.2006.043869. PMID 17400792.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Calado RT, Graf SA, Wilkerson KL; et al. (2007). "Mutations in the SBDS gene in acquired aplastic anemia". Blood. 110 (4): 1141–6. doi:10.1182/blood-2007-03-080044. PMID 17478638.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wang Y, Yagasaki H, Hama A; et al. (2007). "Mutation of SBDS and SH2D1A is not associated with aplastic anemia in Japanese children". Haematologica. 92 (11): 1573. doi:10.3324/haematol.11568. PMID 18024409.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)