SMOC2: Difference between revisions

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Latest revision as of 14:11, 8 June 2018

SPARC-related modular calcium-binding protein 2 is a protein that in humans is encoded by the SMOC2 gene.^[1]^[2]

Clinical relevance

This gene has been shown mutated in clinical cases of major dental developmental defects.^[3]

Brachycephalic dogs show a shortening of the snout along with a widening of the hard palate. This skull form is highly associated with disorders of breathing and of the eyes. Brachycephaly in dogs is correlated to a retrotransposon induced missplicing the SMOC2 gene.^[4]

References

↑ Nishimoto S, Hamajima Y, Toda Y, Toyoda H, Kitamura K, Komurasaki T (June 2002). "Identification of a novel smooth muscle associated protein, smap2, upregulated during neointima formation in a rat carotid endarterectomy model". Biochimica et Biophysica Acta. 1576 (1–2): 225–30. doi:10.1016/s0167-4781(02)00345-7. PMID 12031507.
↑ "Entrez Gene: SMOC2 SPARC related modular calcium binding 2".
↑ Bloch-Zupan A, Jamet X, Etard C, Laugel V, Muller J, Geoffroy V, et al. (December 2011). "Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects". American Journal of Human Genetics. 89 (6): 773–81. doi:10.1016/j.ajhg.2011.11.002. PMC 3234372. PMID 22152679.
↑ Marchant TW, Johnson EJ, McTeir L, Johnson CI, Gow A, Liuti T, et al. (June 2017). "Canine Brachycephaly Is Associated with a Retrotransposon-Mediated Missplicing of SMOC2". Current Biology. 27 (11): 1573–1584.e6. doi:10.1016/j.cub.2017.04.057. PMC 5462623. PMID 28552356.

Wilk JB, Herbert A, Shoemaker CM, Gottlieb DJ, Karamohamed S (March 2007). "Secreted modular calcium-binding protein 2 haplotypes are associated with pulmonary function". American Journal of Respiratory and Critical Care Medicine. 175 (6): 554–60. doi:10.1164/rccm.200601-110OC. PMC 1899283. PMID 17204727.
Rocnik EF, Liu P, Sato K, Walsh K, Vaziri C (August 2006). "The novel SPARC family member SMOC-2 potentiates angiogenic growth factor activity". The Journal of Biological Chemistry. 281 (32): 22855–64. doi:10.1074/jbc.M513463200. PMID 16774925.
Vannahme C, Gösling S, Paulsson M, Maurer P, Hartmann U (August 2003). "Characterization of SMOC-2, a modular extracellular calcium-binding protein". The Biochemical Journal. 373 (Pt 3): 805–14. doi:10.1042/BJ20030532. PMC 1223551. PMID 12741954.

This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it.

[pmid12031507-1] Nishimoto S, Hamajima Y, Toda Y, Toyoda H, Kitamura K, Komurasaki T (June 2002). "Identification of a novel smooth muscle associated protein, smap2, upregulated during neointima formation in a rat carotid endarterectomy model". Biochimica et Biophysica Acta. 1576 (1–2): 225–30. doi:10.1016/s0167-4781(02)00345-7. PMID 12031507.

[entrez-2] "Entrez Gene: SMOC2 SPARC related modular calcium binding 2".

[pmid22152679-3] Bloch-Zupan A, Jamet X, Etard C, Laugel V, Muller J, Geoffroy V, et al. (December 2011). "Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects". American Journal of Human Genetics. 89 (6): 773–81. doi:10.1016/j.ajhg.2011.11.002. PMC 3234372. PMID 22152679.

[4] Marchant TW, Johnson EJ, McTeir L, Johnson CI, Gow A, Liuti T, et al. (June 2017). "Canine Brachycephaly Is Associated with a Retrotransposon-Mediated Missplicing of SMOC2". Current Biology. 27 (11): 1573–1584.e6. doi:10.1016/j.cub.2017.04.057. PMC 5462623. PMID 28552356.

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 {{Infobox_gene}}
-'''SPARC-related modular calcium-binding protein 2''' is a [[protein]] that in humans is encoded by the ''SMOC2'' [[gene]].<ref name="pmid12031507">{{cite journal | vauthors = Nishimoto S, Hamajima Y, Toda Y, Toyoda H, Kitamura K, Komurasaki T | title = Identification of a novel smooth muscle associated protein, smap2, upregulated during neointima formation in a rat carotid endarterectomy model | journal = Biochimica et Biophysica Acta | volume = 1576 | issue = 1-2 | pages = 225–30 | date = June 2002 | pmid = 12031507 | pmc =  | doi = 10.1016/s0167-4781(02)00345-7 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SMOC2 SPARC related modular calcium binding 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64094| accessdate = }}</ref>
+'''SPARC-related modular calcium-binding protein 2''' is a [[protein]] that in humans is encoded by the ''SMOC2'' [[gene]].<ref name="pmid12031507">{{cite journal | vauthors = Nishimoto S, Hamajima Y, Toda Y, Toyoda H, Kitamura K, Komurasaki T | title = Identification of a novel smooth muscle associated protein, smap2, upregulated during neointima formation in a rat carotid endarterectomy model | journal = Biochimica et Biophysica Acta | volume = 1576 | issue = 1–2 | pages = 225–30 | date = June 2002 | pmid = 12031507 | pmc =  | doi = 10.1016/s0167-4781(02)00345-7 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SMOC2 SPARC related modular calcium binding 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64094| accessdate = }}</ref>
 ==Clinical relevance==
 This gene has been shown mutated in clinical cases of major dental developmental defects.<ref name="pmid22152679">{{cite journal | vauthors = Bloch-Zupan A, Jamet X, Etard C, Laugel V, Muller J, Geoffroy V, Strauss JP, Pelletier V, Marion V, Poch O, Strahle U, Stoetzel C, Dollfus H | display-authors = 6 | title = Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects | journal = American Journal of Human Genetics | volume = 89 | issue = 6 | pages = 773–81 | date = December 2011 | pmid = 22152679 | pmc = 3234372 | doi = 10.1016/j.ajhg.2011.11.002 }}</ref>
-[[Brachycephalic dog]]s show a shortening of the [[snout]] along with a widening of the hard [[hard palate]]. This skull form is highly associated with breathing distress and eye trauma. The skull form is correlated with a variation in the SMOC2 gene.<ref>{{cite journal | vauthors = Marchant TW, Johnson EJ, McTeir L, Johnson CI, Gow A, Liuti T, Kuehn D, Svenson K, Bermingham ML, Drögemüller M, Nussbaumer M, Davey MG, Argyle DJ, Powell RM, Guilherme S, Lang J, Ter Haar G, Leeb T, Schwarz T, Mellanby RJ, Clements DN, Schoenebeck JJ | display-authors = 6 | title = Canine Brachycephaly Is Associated with a Retrotransposon-Mediated Missplicing of SMOC2 | journal = Current Biology | volume = 27 | issue = 11 | pages = 1573–1584.e6 | date = June 2017 | pmid = 28552356 | doi = 10.1016/j.cub.2017.04.057 }}</ref>
+[[Brachycephalic dog]]s show a shortening of the [[snout]] along with a widening of the [[hard palate]]. This skull form is highly associated with disorders of breathing and of the eyes. Brachycephaly in dogs is correlated to a [[retrotransposon]] induced missplicing the SMOC2 gene.<ref>{{cite journal | vauthors = Marchant TW, Johnson EJ, McTeir L, Johnson CI, Gow A, Liuti T, Kuehn D, Svenson K, Bermingham ML, Drögemüller M, Nussbaumer M, Davey MG, Argyle DJ, Powell RM, Guilherme S, Lang J, Ter Haar G, Leeb T, Schwarz T, Mellanby RJ, Clements DN, Schoenebeck JJ | display-authors = 6 | title = Canine Brachycephaly Is Associated with a Retrotransposon-Mediated Missplicing of SMOC2 | journal = Current Biology | volume = 27 | issue = 11 | pages = 1573–1584.e6 | date = June 2017 | pmid = 28552356 | doi = 10.1016/j.cub.2017.04.057 | pmc=5462623}}</ref>
 == References ==

SMOC2: Difference between revisions

Latest revision as of 14:11, 8 June 2018

Clinical relevance

References

Further reading

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