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SMOC2

From Wikipedia, the free encyclopedia
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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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

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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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000112562Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000023886Ensembl, 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

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