View source for 2q0b

[[Image:2q0b.jpg|left|200px]]

 {{Structure
|PDB= 2q0b |SIZE=350|CAPTION= <scene name='initialview01'>2q0b</scene>, resolution 2.9&Aring;
|SITE= 
|LIGAND= <scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene> and <scene name='pdbligand=ABG:ADENOSINE 5&#39;-[BETA,GAMMA-METHYLENE]TRIPHOSPHATE'>ABG</scene>
|ACTIVITY= [http://en.wikipedia.org/wiki/Receptor_protein-tyrosine_kinase Receptor protein-tyrosine kinase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=2.7.10.1 2.7.10.1] 
|GENE= FGFR2, BEK, KSAM ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])
}}

'''Crystal Strucure of FGF Receptor 2 (FGFR2) Kinase Domain Harboring the Pathogenic E565A Mutation Responsible for Pfeiffer Syndrome'''


==Overview==
Activating mutations in the tyrosine kinase domain of receptor tyrosine kinases (RTKs) cause cancer and skeletal disorders. Comparison of the crystal structures of unphosphorylated and phosphorylated wild-type FGFR2 kinase domains with those of seven unphosphorylated pathogenic mutants reveals an autoinhibitory "molecular brake" mediated by a triad of residues in the kinase hinge region of all FGFRs. Structural analysis shows that many other RTKs, including PDGFRs, VEGFRs, KIT, CSF1R, FLT3, TEK, and TIE, are also subject to regulation by this brake. Pathogenic mutations activate FGFRs and other RTKs by disengaging the brake either directly or indirectly.

==Disease==
Known diseases associated with this structure: Antley-Bixler syndrome, 207410 ( OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943 176943]], Apert syndrome OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943 176943]], Beare-Stevenson cutis gyrata syndrome OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943 176943]], Craniofacial-skeletal-dermatologic dysplasia OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943 176943]], Craniosynostosis, nonspecific OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943 176943]], Crouzon syndrome OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943 176943]], Gastric cancer, somatic OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943 176943]], Jackson-Weiss syndrome OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943 176943]], Pfeiffer syndrome OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943 176943]], Saethre-Chotzen syndrome OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943 176943]]

==About this Structure==
2Q0B is a [[Single protein]] structure of sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2Q0B OCA]. 

==Reference==
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases., Chen H, Ma J, Li W, Eliseenkova AV, Xu C, Neubert TA, Miller WT, Mohammadi M, Mol Cell. 2007 Sep 7;27(5):717-30. PMID:[http://www.ncbi.nlm.nih.gov/pubmed/17803937 17803937]
[[Category: Homo sapiens]]
[[Category: Receptor protein-tyrosine kinase]]
[[Category: Single protein]]
[[Category: Chen, H.]]
[[Category: Mohammadi, M.]]
[[Category: ABG]]
[[Category: SO4]]
[[Category: kinase domain fold consisting of n- and c-lobe]]
[[Category: transferase]]

''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Sun Mar 23 15:42:03 2008''