단백질
SPARC 관련 모듈러형 칼슘결합단백질 2는 SMOC2 [5] [6] 단백질 이다.
임상 관련성 이 유전자는 주요 치아 발달 결함의 [7]
상완두개들 은 경구개 확장과 함께 주둥이 가 짧아지는 것을 보여준다.이 두개골 형태는 호흡과 눈의 장애와 매우 관련이 있다. 개의 완두증은 SMOC2 [8] 역트랜스포존 유도 미스플라이싱과 관련이 있다.
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000112562 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000023886 - 앙상블 , 2017년 5월^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ 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 (BBA) - Gene Structure and Expression . 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 .
추가 정보 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 . 
