SMOC2

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
Genetically Related Diseases
vitiligo[1]
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

64094

64074

Ensembl

ENSG00000112562

ENSMUSG00000023886

UniProt

Q9H3U7

Q8CD91

RefSeq (mRNA)

NM_001166412
NM_022138

NM_022315

RefSeq (protein)

NP_001159884.1
NP_071421.1

NP_071710.2

Location (UCSC) Chr 6: 168.44 – 168.67 Mb Chr 17: 14.28 – 14.4 Mb
PubMed search [2] [3]
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.[4][5]

Clinical relevance

This gene has been shown mutated in clinical cases of major dental developmental defects.[6]

References

  1. "Diseases that are genetically associated with SMOC2 view/edit references on wikidata".
  2. "Human PubMed Reference:".
  3. "Mouse PubMed Reference:".
  4. Nishimoto S, Hamajima Y, Toda Y, Toyoda H, Kitamura K, Komurasaki T (May 2002). "Identification of a novel smooth muscle associated protein, smap2, upregulated during neointima formation in a rat carotid endarterectomy model". Biochim Biophys Acta. 1576 (1–2): 225–30. doi:10.1016/s0167-4781(02)00345-7. PMID 12031507.
  5. "Entrez Gene: SMOC2 SPARC related modular calcium binding 2".
  6. Bloch-Zupan A, Jamet X, Etard C, Laugel V, Muller J, Geoffroy V, Strauss JP, Pelletier V, Marion V, Poch O, Strahle U, Stoetzel C, Dollfus H (December 2011). "Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects". Am J Hum Genet. 89 (6): 773–781. doi:10.1016/j.ajhg.2011.11.002. PMC 3234372Freely accessible. PMID 22152679.

Further reading


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