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#REDIRECT [[Sclerostin]]
{{Merge|Sclerostin|date=December 2007}}
{{R from merge}}
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Sclerosteosis
| HGNCid = 13771
| Symbol = SOST
| AltSymbols =; VBCH
| OMIM = 605740
| ECnumber = 
| Homologene = 11542
| MGIid = 1921749
| Function = {{GNF_GO|id=GO:0003674 |text = molecular_function}}
| Component = {{GNF_GO|id=GO:0005575 |text = cellular_component}}
| Process = {{GNF_GO|id=GO:0001503 |text = ossification}} {{GNF_GO|id=GO:0030279 |text = negative regulation of ossification}} {{GNF_GO|id=GO:0030514 |text = negative regulation of BMP signaling pathway}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 50964
    | Hs_Ensembl = ENSG00000167941
    | Hs_RefseqProtein = NP_079513
    | Hs_RefseqmRNA = NM_025237
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 17
    | Hs_GenLoc_start = 39186629
    | Hs_GenLoc_end = 39191682
    | Hs_Uniprot = Q9BQB4
    | Mm_EntrezGene = 74499
    | Mm_Ensembl = ENSMUSG00000001494
    | Mm_RefseqmRNA = NM_024449
    | Mm_RefseqProtein = NP_077769
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 11
    | Mm_GenLoc_start = 101778626
    | Mm_GenLoc_end = 101783105
    | Mm_Uniprot = Q99P68
  }}
}}
'''Sclerostin''', also known as '''SOST''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SOST sclerosteosis| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=50964| accessdate = }}</ref>
 
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Loss-of-function mutations in this gene are associated with an autosomal-recessive disorder, sclerosteosis, which causes progressive bone overgrowth. A deletion downstream of this gene, which causes reduced sclerostin expression, is associated with a milder form of the disorder called van Buchem disease.<ref name="entrez">{{cite web | title = Entrez Gene: SOST sclerosteosis| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=50964| accessdate = }}</ref>
}}
 
==References==
{{reflist|2}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal  | author=Balemans W, Van Hul W |title=Human genetics of SOST. |journal=Journal of musculoskeletal & neuronal interactions |volume=6 |issue= 4 |pages= 355-6 |year= 2007 |pmid= 17185822 |doi=  }}
*{{cite journal  | author=Brunkow ME, Gardner JC, Van Ness J, ''et al.'' |title=Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. |journal=Am. J. Hum. Genet. |volume=68 |issue= 3 |pages= 577-89 |year= 2001 |pmid= 11179006 |doi=  }}
*{{cite journal  | author=Balemans W, Ebeling M, Patel N, ''et al.'' |title=Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). |journal=Hum. Mol. Genet. |volume=10 |issue= 5 |pages= 537-43 |year= 2001 |pmid= 11181578 |doi=  }}
*{{cite journal  | author=Balemans W, Patel N, Ebeling M, ''et al.'' |title=Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. |journal=J. Med. Genet. |volume=39 |issue= 2 |pages= 91-7 |year= 2002 |pmid= 11836356 |doi=  }}
*{{cite journal  | author=Staehling-Hampton K, Proll S, Paeper BW, ''et al.'' |title=A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population. |journal=Am. J. Med. Genet. |volume=110 |issue= 2 |pages= 144-52 |year= 2002 |pmid= 12116252 |doi= 10.1002/ajmg.10401 }}
*{{cite journal  | author=Balemans W, Foernzler D, Parsons C, ''et al.'' |title=Lack of association between the SOST gene and bone mineral density in perimenopausal women: analysis of five polymorphisms. |journal=Bone |volume=31 |issue= 4 |pages= 515-9 |year= 2003 |pmid= 12398949 |doi=  }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Clark HF, Gurney AL, Abaya E, ''et al.'' |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265-70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003 }}
*{{cite journal  | author=Winkler DG, Sutherland MK, Geoghegan JC, ''et al.'' |title=Osteocyte control of bone formation via sclerostin, a novel BMP antagonist. |journal=EMBO J. |volume=22 |issue= 23 |pages= 6267-76 |year= 2004 |pmid= 14633986 |doi= 10.1093/emboj/cdg599 }}
*{{cite journal  | author=Sevetson B, Taylor S, Pan Y |title=Cbfa1/RUNX2 directs specific expression of the sclerosteosis gene (SOST). |journal=J. Biol. Chem. |volume=279 |issue= 14 |pages= 13849-58 |year= 2004 |pmid= 14739291 |doi= 10.1074/jbc.M306249200 }}
*{{cite journal  | author=van Bezooijen RL, Roelen BA, Visser A, ''et al.'' |title=Sclerostin is an osteocyte-expressed negative regulator of bone formation, but not a classical BMP antagonist. |journal=J. Exp. Med. |volume=199 |issue= 6 |pages= 805-14 |year= 2004 |pmid= 15024046 |doi= 10.1084/jem.20031454 }}
*{{cite journal  | author=Winkler DG, Yu C, Geoghegan JC, ''et al.'' |title=Noggin and sclerostin bone morphogenetic protein antagonists form a mutually inhibitory complex. |journal=J. Biol. Chem. |volume=279 |issue= 35 |pages= 36293-8 |year= 2004 |pmid= 15199066 |doi= 10.1074/jbc.M400521200 }}
*{{cite journal  | author=Zhang Z, Henzel WJ |title=Signal peptide prediction based on analysis of experimentally verified cleavage sites. |journal=Protein Sci. |volume=13 |issue= 10 |pages= 2819-24 |year= 2005 |pmid= 15340161 |doi= 10.1110/ps.04682504 }}
*{{cite journal  | author=Sutherland MK, Geoghegan JC, Yu C, ''et al.'' |title=Sclerostin promotes the apoptosis of human osteoblastic cells: a novel regulation of bone formation. |journal=Bone |volume=35 |issue= 4 |pages= 828-35 |year= 2005 |pmid= 15454089 |doi= 10.1016/j.bone.2004.05.023 }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Uitterlinden AG, Arp PP, Paeper BW, ''et al.'' |title=Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites. |journal=Am. J. Hum. Genet. |volume=75 |issue= 6 |pages= 1032-45 |year= 2005 |pmid= 15514891 |doi= 10.1086/426458 }}
*{{cite journal  | author=Winkler DG, Sutherland MS, Ojala E, ''et al.'' |title=Sclerostin inhibition of Wnt-3a-induced C3H10T1/2 cell differentiation is indirect and mediated by bone morphogenetic proteins. |journal=J. Biol. Chem. |volume=280 |issue= 4 |pages= 2498-502 |year= 2005 |pmid= 15545262 |doi= 10.1074/jbc.M400524200 }}
*{{cite journal  | author=Poole KE, van Bezooijen RL, Loveridge N, ''et al.'' |title=Sclerostin is a delayed secreted product of osteocytes that inhibits bone formation. |journal=FASEB J. |volume=19 |issue= 13 |pages= 1842-4 |year= 2006 |pmid= 16123173 |doi= 10.1096/fj.05-4221fje }}
*{{cite journal  | author=Gardner JC, van Bezooijen RL, Mervis B, ''et al.'' |title=Bone mineral density in sclerosteosis; affected individuals and gene carriers. |journal=J. Clin. Endocrinol. Metab. |volume=90 |issue= 12 |pages= 6392-5 |year= 2006 |pmid= 16189254 |doi= 10.1210/jc.2005-1235 }}
*{{cite journal  | author=Ellies DL, Viviano B, McCarthy J, ''et al.'' |title=Bone density ligand, Sclerostin, directly interacts with LRP5 but not LRP5G171V to modulate Wnt activity. |journal=J. Bone Miner. Res. |volume=21 |issue= 11 |pages= 1738-49 |year= 2007 |pmid= 17002572 |doi= 10.1359/jbmr.060810 }}
}}
{{refend}}
 
{{protein-stub}}
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Latest revision as of 14:43, 6 September 2012


Sclerosteosis
Identifiers
Symbols SOST ; VBCH
External IDs Template:OMIM5 Template:MGI HomoloGene: 11542
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

Sclerostin, also known as SOST, is a human gene.[1]

Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Loss-of-function mutations in this gene are associated with an autosomal-recessive disorder, sclerosteosis, which causes progressive bone overgrowth. A deletion downstream of this gene, which causes reduced sclerostin expression, is associated with a milder form of the disorder called van Buchem disease.[1]

References

  1. ↑ 1.0 1.1 "Entrez Gene: SOST sclerosteosis".

Further reading

  • Balemans W, Van Hul W (2007). "Human genetics of SOST". Journal of musculoskeletal & neuronal interactions. 6 (4): 355–6. PMID 17185822.
  • Brunkow ME, Gardner JC, Van Ness J; et al. (2001). "Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein". Am. J. Hum. Genet. 68 (3): 577–89. PMID 11179006.
  • Balemans W, Ebeling M, Patel N; et al. (2001). "Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)". Hum. Mol. Genet. 10 (5): 537–43. PMID 11181578.
  • Balemans W, Patel N, Ebeling M; et al. (2002). "Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease". J. Med. Genet. 39 (2): 91–7. PMID 11836356.
  • Staehling-Hampton K, Proll S, Paeper BW; et al. (2002). "A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population". Am. J. Med. Genet. 110 (2): 144–52. doi:10.1002/ajmg.10401. PMID 12116252.
  • Balemans W, Foernzler D, Parsons C; et al. (2003). "Lack of association between the SOST gene and bone mineral density in perimenopausal women: analysis of five polymorphisms". Bone. 31 (4): 515–9. PMID 12398949.
  • 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.
  • Clark HF, Gurney AL, Abaya E; et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMID 12975309.
  • Winkler DG, Sutherland MK, Geoghegan JC; et al. (2004). "Osteocyte control of bone formation via sclerostin, a novel BMP antagonist". EMBO J. 22 (23): 6267–76. doi:10.1093/emboj/cdg599. PMID 14633986.
  • Sevetson B, Taylor S, Pan Y (2004). "Cbfa1/RUNX2 directs specific expression of the sclerosteosis gene (SOST)". J. Biol. Chem. 279 (14): 13849–58. doi:10.1074/jbc.M306249200. PMID 14739291.
  • van Bezooijen RL, Roelen BA, Visser A; et al. (2004). "Sclerostin is an osteocyte-expressed negative regulator of bone formation, but not a classical BMP antagonist". J. Exp. Med. 199 (6): 805–14. doi:10.1084/jem.20031454. PMID 15024046.
  • Winkler DG, Yu C, Geoghegan JC; et al. (2004). "Noggin and sclerostin bone morphogenetic protein antagonists form a mutually inhibitory complex". J. Biol. Chem. 279 (35): 36293–8. doi:10.1074/jbc.M400521200. PMID 15199066.
  • Zhang Z, Henzel WJ (2005). "Signal peptide prediction based on analysis of experimentally verified cleavage sites". Protein Sci. 13 (10): 2819–24. doi:10.1110/ps.04682504. PMID 15340161.
  • Sutherland MK, Geoghegan JC, Yu C; et al. (2005). "Sclerostin promotes the apoptosis of human osteoblastic cells: a novel regulation of bone formation". Bone. 35 (4): 828–35. doi:10.1016/j.bone.2004.05.023. PMID 15454089.
  • 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.
  • Uitterlinden AG, Arp PP, Paeper BW; et al. (2005). "Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites". Am. J. Hum. Genet. 75 (6): 1032–45. doi:10.1086/426458. PMID 15514891.
  • Winkler DG, Sutherland MS, Ojala E; et al. (2005). "Sclerostin inhibition of Wnt-3a-induced C3H10T1/2 cell differentiation is indirect and mediated by bone morphogenetic proteins". J. Biol. Chem. 280 (4): 2498–502. doi:10.1074/jbc.M400524200. PMID 15545262.
  • Poole KE, van Bezooijen RL, Loveridge N; et al. (2006). "Sclerostin is a delayed secreted product of osteocytes that inhibits bone formation". FASEB J. 19 (13): 1842–4. doi:10.1096/fj.05-4221fje. PMID 16123173.
  • Gardner JC, van Bezooijen RL, Mervis B; et al. (2006). "Bone mineral density in sclerosteosis; affected individuals and gene carriers". J. Clin. Endocrinol. Metab. 90 (12): 6392–5. doi:10.1210/jc.2005-1235. PMID 16189254.
  • Ellies DL, Viviano B, McCarthy J; et al. (2007). "Bone density ligand, Sclerostin, directly interacts with LRP5 but not LRP5G171V to modulate Wnt activity". J. Bone Miner. Res. 21 (11): 1738–49. doi:10.1359/jbmr.060810. PMID 17002572.

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