SMOC2 explained

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]

Further reading

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

Notes and References

1. Nishimoto S, Hamajima Y, Toda Y, Toyoda H, Kitamura K, Komurasaki T . Identification of a novel smooth muscle associated protein, smap2, upregulated during neointima formation in a rat carotid endarterectomy model . Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression . 1576 . 1–2 . 225–30 . June 2002 . 12031507 . 10.1016/s0167-4781(02)00345-7 .
2. Web site: Entrez Gene: SMOC2 SPARC related modular calcium binding 2.
3. 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 . 6 . 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 . December 2011 . 22152679 . 3234372 . 10.1016/j.ajhg.2011.11.002 .
4. 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 . 6 . Canine Brachycephaly Is Associated with a Retrotransposon-Mediated Missplicing of SMOC2 . Current Biology . 27 . 11 . 1573–1584.e6 . June 2017 . 28552356 . 10.1016/j.cub.2017.04.057 . 5462623.