SMOC2

Protein
SMOC2
Identifiers
AliasesSMOC2, DTDP1, MST117, MSTP117, MSTP140, SMAP2, bA270C4A.1, bA37D8.1, dJ421D16.1, SPARC related modular calcium binding 2
External IDsOMIM: 607223; MGI: 1929881; HomoloGene: 11150; GeneCards: SMOC2; OMA:SMOC2 - orthologs
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for SMOC2
Genomic location for SMOC2
Band6q27Start168,441,151 bp[1]
End168,673,445 bp[1]
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)[2]
Chromosome 17 (mouse)
Genomic location for SMOC2
Genomic location for SMOC2
Band17 A2|17 8.95 cMStart14,499,768 bp[2]
End14,625,052 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 17: 14.5 – 14.63 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000112562 – Ensembl, May 2017
  2. ^ a b c 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.
  • v
  • t
  • e