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; OMA:SMOC2 - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	168,673,445 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	14,625,052 bp
RNA expression pattern
	Top expressed in
	Descending thoracic aorta; ; ascending aorta; ; right coronary artery; ; left uterine tube; ; gastric mucosa; ; gallbladder; ; body of uterus; ; left coronary artery; ; tibia; ; myometrium;
	Top expressed in
	gastrula; ; saccule; ; decidua; ; sciatic nerve; ; vas deferens; ; intercostal muscle; ; efferent ductule; ; cervix; ; lumbar spinal ganglion; ; triceps brachii muscle;
	More reference expression data
	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 space; 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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000112562 – Ensembl, May 2017
^ ^a ^b ^c 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.

Clinical relevance

References

Further reading