2qj9: Difference between revisions

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<StructureSection load='2qj9' size='340' side='right'caption='[[2qj9]], [[Resolution|resolution]] 2.44&Aring;' scene=''>
<StructureSection load='2qj9' size='340' side='right'caption='[[2qj9]], [[Resolution|resolution]] 2.44&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[2qj9]] is a 4 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2QJ9 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2QJ9 FirstGlance]. <br>
<table><tr><td colspan='2'>[[2qj9]] is a 4 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2QJ9 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2QJ9 FirstGlance]. <br>
</td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat"><div style='overflow: auto; max-height: 3em;'>[[1rwe|1rwe]], [[1es7|1es7]], [[3bmp|3bmp]], [[2qja|2qja]], [[2qjb|2qjb]]</div></td></tr>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.44&#8491;</td></tr>
<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">BMP2, BMP2A ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN]), BMPR1A, ACVRLK3, ALK3 ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2qj9 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2qj9 OCA], [https://pdbe.org/2qj9 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2qj9 RCSB], [https://www.ebi.ac.uk/pdbsum/2qj9 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2qj9 ProSAT]</span></td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2qj9 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2qj9 OCA], [https://pdbe.org/2qj9 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2qj9 RCSB], [https://www.ebi.ac.uk/pdbsum/2qj9 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2qj9 ProSAT]</span></td></tr>
</table>
</table>
== Disease ==
[[https://www.uniprot.org/uniprot/BMR1A_HUMAN BMR1A_HUMAN]] Defects in BMPR1A are a cause of juvenile polyposis syndrome (JPS) [MIM:[https://omim.org/entry/174900 174900]]; also known as juvenile intestinal polyposis (JIP). JPS is an autosomal dominant gastrointestinal hamartomatous polyposis syndrome in which patients are at risk for developing gastrointestinal cancers. The lesions are typified by a smooth histological appearance, predominant stroma, cystic spaces and lack of a smooth muscle core. Multiple juvenile polyps usually occur in a number of Mendelian disorders. Sometimes, these polyps occur without associated features as in JPS; here, polyps tend to occur in the large bowel and are associated with an increased risk of colon and other gastrointestinal cancers.<ref>PMID:11381269</ref> <ref>PMID:11536076</ref> <ref>PMID:12417513</ref> <ref>PMID:12136244</ref> <ref>PMID:12630959</ref>  Defects in BMPR1A are a cause of Cowden disease (CD) [MIM:[https://omim.org/entry/158350 158350]]. CD is an autosomal dominant cancer syndrome characterized by multiple hamartomas and by a high risk for breast, thyroid and endometrial cancers.<ref>PMID:11381269</ref> <ref>PMID:11536076</ref>  Defects in BMPR1A are the cause of hereditary mixed polyposis syndrome 2 (HMPS2) [MIM:[https://omim.org/entry/610069 610069]]. Hereditary mixed polyposis syndrome (HMPS) is characterized by atypical juvenile polyps, colonic adenomas, and colorectal carcinomas.<ref>PMID:11381269</ref>  Note=A microdeletion of chromosome 10q23 involving BMPR1A and PTEN is a cause of chromosome 10q23 deletion syndrome, which shows overlapping features of the following three disorders: Bannayan-Zonana syndrome, Cowden disease and juvenile polyposis syndrome.<ref>PMID:11381269</ref> 
== Function ==
== Function ==
[[https://www.uniprot.org/uniprot/BMP2_HUMAN BMP2_HUMAN]] Induces cartilage and bone formation. [[https://www.uniprot.org/uniprot/BMR1A_HUMAN BMR1A_HUMAN]] On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP-2 and BMP-4.  
[https://www.uniprot.org/uniprot/BMP2_HUMAN BMP2_HUMAN] Induces cartilage and bone formation.
== Evolutionary Conservation ==
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
[[Image:Consurf_key_small.gif|200px|right]]
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__TOC__
__TOC__
</StructureSection>
</StructureSection>
[[Category: Human]]
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Large Structures]]
[[Category: Kotzsch, A]]
[[Category: Kotzsch A]]
[[Category: Mueller, T D]]
[[Category: Mueller TD]]
[[Category: Atp-binding]]
[[Category: Chondrogenesis]]
[[Category: Cleavage on pair of basic residue]]
[[Category: Cytokine]]
[[Category: Cytokine-receptor complex]]
[[Category: Developmental protein]]
[[Category: Differentiation]]
[[Category: Disease mutation]]
[[Category: Glycoprotein]]
[[Category: Growth factor]]
[[Category: Kinase]]
[[Category: Ligand-receptor complex]]
[[Category: Magnesium]]
[[Category: Manganese]]
[[Category: Membrane]]
[[Category: Metal-binding]]
[[Category: Nucleotide-binding]]
[[Category: Osteogenesis]]
[[Category: Phosphorylation]]
[[Category: Serine/threonine-protein kinase]]
[[Category: Transferase]]
[[Category: Transmembrane]]

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