SMOC2

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SMOC2
Identifiers
Aliases SMOC2, DTDP1, MST117, MSTP117, MSTP140, SMAP2, bA270C4A.1, bA37D8.1, dJ421D16.1, SPARC related modular calcium binding 2
External IDs MGI: 1929881 HomoloGene: 11150 GeneCards: SMOC2
Gene location (Human)
Chromosome 6 (human)
Chr. Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for SMOC2
Genomic location for SMOC2
Band No data available Start 168,441,151 bp[1]
End 168,673,445 bp[1]
RNA expression pattern
PBB GE SMOC2 gnf1h05878 at fs.png
More reference expression data
Orthologs
Species Human Mouse
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 Mb Chr 6: 14.28 – 14.4 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[edit]

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 hard palate. This skull form is highly associated with breathing distress and eye trauma. The skull form is correlated with a variation in the SMOC2 gene.[8]

References[edit]

  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:". 
  4. ^ "Mouse PubMed Reference:". 
  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. 1576 (1-2): 225–30. PMID 12031507. doi:10.1016/s0167-4781(02)00345-7. 
  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. PMC 3234372Freely accessible. PMID 22152679. doi:10.1016/j.ajhg.2011.11.002. 
  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. PMID 28552356. doi:10.1016/j.cub.2017.04.057. 

Further reading[edit]