SMOC2

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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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SMOC2

Clinical relevance

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SMOC2

Clinical relevance

References

Further reading

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