SPARC-related modular calcium-binding protein 2 is a protein that in humans is encoded by the SMOC2gene.[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 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.[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. PMID12031507.
↑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. PMID28552356.
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. PMID16774925.
