SMOC2

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

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] Band 6q27 Start 168,441,151 bp[1] End 168,673,445 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17 A2|17 8.95 cM Start 14,279,506 bp[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
Species	Human	Mouse
Entrez	64094	64074
Ensembl	ENSG00000112562	ENSMUSG00000023886
UniProt	Q9H3U7	Q8CD91
RefSeq (mRNA)	NM_001166412 NM_022138	NM_022315
RefSeq (protein)	NP_001159884 NP_071421	NP_071710
Location (UCSC)	Chr 6: 168.44 – 168.67 Mb	Chr 17: 14.28 – 14.4 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000112562 - Ensembl, May 2017
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.
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.
6. "Entrez Gene: SMOC2 SPARC related modular calcium binding 2".
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.

Further reading

• 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.