SMOC2

SMOC2
Identifiers
Aliases	SMOC2, DTDP1, MST117, MSTP117, MSTP140, SMAP2, bA270C4A.1, bA37D8.1, dJ421D16.1, SPARC related modular calcium binding 2
External IDs	OMIM: 607223 MGI: 1929881 HomoloGene: 11150 GeneCards: SMOC2
Gene location (Human)
Chr.	Chromosome 6 (human)[1]
End	168,673,445 bp[1]
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)[2]
End	14,404,790 bp[2]
RNA expression pattern
	More reference expression data
Gene ontology
Molecular function	• calcium ion binding; • glycosaminoglycan binding; • heparin binding; • metal ion binding;
Cellular component	• extracellular region; • basement membrane; • interstitial matrix; • extracellular; • collagen-containing extracellular matrix; • cell periphery; • extracellular matrix;
Biological process	• extracellular matrix organization; • signal transduction; • positive regulation of cell-substrate adhesion; • positive regulation of endothelial cell migration; • positive regulation of vascular wound healing; • positive regulation of angiogenesis; • positive regulation of mitotic cell cycle; • positive regulation of vascular endothelial growth factor signaling pathway; • positive regulation of DNA biosynthetic process; • positive regulation of endothelial cell chemotaxis; • positive regulation of fibroblast growth factor receptor signaling pathway;
	Sources:Amigo / QuickGO
Orthologs
	64094
	64074
	ENSG00000112562
	ENSMUSG00000023886
	Q9H3U7
	Q8CD91
	NM_001166412; NM_022138
	NM_022315
	NP_001159884; NP_071421
	NP_071710
	Wikidata
View/Edit Human	View/Edit Mouse

SPARC-related modular calcium-binding protein 2 is a protein that in humans is encoded by the SMOC2 gene.[5][6]

Clinical relevance

This gene has been shown mutated in clinical cases of major dental developmental defects.[7]

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.[8]

References

GRCh38: Ensembl release 89: ENSG00000112562 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000023886 - Ensembl, May 2017
"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.

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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000112562 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000023886 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid12031507-5] 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-6] "Entrez Gene: SMOC2 SPARC related modular calcium binding 2".

[pmid22152679-7] 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.

[8] 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.

SMOC2

Clinical relevance

References

Further reading