SMOC2
| SMOC2 | |||||||||||||||||
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| 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] | |||||||||||||||||
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| RNA expression pattern | |||||||||||||||||
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| Orthologs | |||||||||||||||||
| Species | Human | Mouse | |||||||||||||||
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| Ensembl | |||||||||||||||||
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| Location (UCSC) | Chr 6: 168.44 – 168.67 Mb | Chr 17: 14.28 – 14.4 Mb | |||||||||||||||
| PubMed search | [2] | [3] | |||||||||||||||
| 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.[4][5]
Clinical relevance
This gene has been shown mutated in clinical cases of major dental developmental defects.[6]
References
- ↑ "Diseases that are genetically associated with SMOC2 view/edit references on wikidata".
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ 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.
- ↑ "Entrez Gene: SMOC2 SPARC related modular calcium binding 2".
- ↑ 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 3234372
. PMID 22152679.
Further reading
- Wilk JB, Herbert A, Shoemaker CM, et al. (2007). "Secreted modular calcium-binding protein 2 haplotypes are associated with pulmonary function.". Am. J. Respir. Crit. Care Med. 175 (6): 554–60. doi:10.1164/rccm.200601-110OC. PMC 1899283. PMID 17204727.
- Rocnik EF, Liu P, Sato K, et al. (2006). "The novel SPARC family member SMOC-2 potentiates angiogenic growth factor activity.". J. Biol. Chem. 281 (32): 22855–64. doi:10.1074/jbc.M513463200. PMID 16774925.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6.". Nature. 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404.
- Vannahme C, Gösling S, Paulsson M, et al. (2003). "Characterization of SMOC-2, a modular extracellular calcium-binding protein.". Biochem. J. 373 (Pt 3): 805–14. doi:10.1042/BJ20030532. PMC 1223551. PMID 12741954.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
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