2cr4

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Template:STRUCTURE 2cr4

Contents 1 Solution structure of the SH2 domain of human SH3BP2 protein 2 Disease 3 Function 4 About this Structure 5 Reference

Solution structure of the SH2 domain of human SH3BP2 protein

Disease

[3BP2_HUMAN] Defects in SH3BP2 are the cause of cherubism (CRBM) [MIM:118400]. CRBM is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws, which often begins around three years of age. It is followed by development of fibrous tissue masses, which causes a characteristic facial swelling.^[1][2][3]

Function

[3BP2_HUMAN] Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. Binds to phosphatidylinositols; linking the hemopoietic tyrosine kinase fes to the cytoplasmic membrane in a phosphorylation dependent mechanism.

About this Structure

2cr4 is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.

Reference

1. ↑ Ueki Y, Tiziani V, Santanna C, Fukai N, Maulik C, Garfinkle J, Ninomiya C, doAmaral C, Peters H, Habal M, Rhee-Morris L, Doss JB, Kreiborg S, Olsen BR, Reichenberger E. Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet. 2001 Jun;28(2):125-6. PMID:11381256 doi:10.1038/88832
2. ↑ Lo B, Faiyaz-Ul-Haque M, Kennedy S, Aviv R, Tsui LC, Teebi AS. Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism. Am J Med Genet A. 2003 Aug 15;121A(1):37-40. PMID:12900899 doi:http://dx.doi.org/10.1002/ajmg.a.20226
3. ↑ Imai Y, Kanno K, Moriya T, Kayano S, Seino H, Matsubara Y, Yamada A. A missense mutation in the SH3BP2 gene on chromosome 4p16.3 found in a case of nonfamilial cherubism. Cleft Palate Craniofac J. 2003 Nov;40(6):632-8. PMID:14577811