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) [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 14,499,768 bp [2] End 14,625,052 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 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: 14.5 – 14.63 Mb PubMed search [3] [4]
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

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.