2k2j

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== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[2k2j]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2K2J OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2K2J FirstGlance]. <br>
<table><tr><td colspan='2'>[[2k2j]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2K2J OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2K2J FirstGlance]. <br>
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</td></tr><tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">PLCG2 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
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</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">PLCG2 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
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<tr><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Phosphoinositide_phospholipase_C Phosphoinositide phospholipase C], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=3.1.4.11 3.1.4.11] </span></td></tr>
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<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Phosphoinositide_phospholipase_C Phosphoinositide phospholipase C], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=3.1.4.11 3.1.4.11] </span></td></tr>
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<tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2k2j FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2k2j OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2k2j RCSB], [http://www.ebi.ac.uk/pdbsum/2k2j PDBsum]</span></td></tr>
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2k2j FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2k2j OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2k2j RCSB], [http://www.ebi.ac.uk/pdbsum/2k2j PDBsum]</span></td></tr>
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<table>
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</table>
== Disease ==
== Disease ==
[[http://www.uniprot.org/uniprot/PLCG2_HUMAN PLCG2_HUMAN]] Defects in PLCG2 are the cause of familial cold autoinflammatory syndrome type 3 (FCAS3) [MIM:[http://omim.org/entry/614468 614468]]. An autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritis in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B cells, defective B cells, increased susceptibility to infection, and increased risk of autoimmune disorders.<ref>PMID:22236196</ref>
[[http://www.uniprot.org/uniprot/PLCG2_HUMAN PLCG2_HUMAN]] Defects in PLCG2 are the cause of familial cold autoinflammatory syndrome type 3 (FCAS3) [MIM:[http://omim.org/entry/614468 614468]]. An autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritis in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B cells, defective B cells, increased susceptibility to infection, and increased risk of autoimmune disorders.<ref>PMID:22236196</ref>
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[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Phosphoinositide phospholipase C]]
[[Category: Phosphoinositide phospholipase C]]
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[[Category: Bunney, T D.]]
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[[Category: Bunney, T D]]
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[[Category: Driscoll, P C.]]
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[[Category: Driscoll, P C]]
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[[Category: Harris, R.]]
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[[Category: Harris, R]]
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[[Category: Katan, M.]]
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[[Category: Katan, M]]
[[Category: C-terminal helix]]
[[Category: C-terminal helix]]
[[Category: Hydrolase]]
[[Category: Hydrolase]]

Revision as of 16:28, 19 January 2015

NMR solution structure of the split PH domain from Phospholipase C gamma 2

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