2a5e: Difference between revisions

<StructureSection load='2a5e' size='340' side='right'caption='[[2a5e]]' scene=''>

<table><tr><td colspan='2'>[[2a5e]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2A5E OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2A5E FirstGlance]. <br>

</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</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=2a5e FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2a5e OCA], [https://pdbe.org/2a5e PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2a5e RCSB], [https://www.ebi.ac.uk/pdbsum/2a5e PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2a5e ProSAT]</span></td></tr>

[https://www.uniprot.org/uniprot/CDN2A_HUMAN CDN2A_HUMAN] Note=The association between cutaneous and uveal melanomas in some families suggests that mutations in CDKN2A may account for a proportion of uveal melanomas. However, CDKN2A mutations are rarely found in uveal melanoma patients.  Defects in CDKN2A are the cause of cutaneous malignant melanoma type 2 (CMM2) [MIM:[https://omim.org/entry/155601 155601]. Malignant melanoma is a malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites.<ref>PMID:7987387</ref> <ref>PMID:8595405</ref> <ref>PMID:8653684</ref> <ref>PMID:8710906</ref> <ref>PMID:9328469</ref> <ref>PMID:9425228</ref> <ref>PMID:10651484</ref> <ref>PMID:11506491</ref> <ref>PMID:12019208</ref> <ref>PMID:10874641</ref> <ref>PMID:14646619</ref> <ref>PMID:19260062</ref>  Defects in CDKN2A are the cause of familial atypical multiple mole melanoma-pancreatic carcinoma syndrome (FAMMMPC) [MIM:[https://omim.org/entry/606719 606719].  Defects in CDKN2A are a cause of Li-Fraumeni syndrome (LFS) [MIM:[https://omim.org/entry/151623 151623]. LFS is a highly penetrant familial cancer phenotype usually associated with inherited mutations in TP53.<ref>PMID:10484981</ref>  Defects in CDKN2A are the cause of melanoma-astrocytoma syndrome (MASTS) [MIM:[https://omim.org/entry/155755 155755]. The melanoma-astrocytoma syndrome is characterized by a dual predisposition to melanoma and neural system tumors, commonly astrocytoma.<ref>PMID:11136714</ref>  

[https://www.uniprot.org/uniprot/CDN2A_HUMAN CDN2A_HUMAN] Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblastoma protein.<ref>PMID:7972006</ref> <ref>PMID:16782892</ref>  

[[Category: Homo sapiens]]

[[Category: Byeon I-JL]]

[[Category: Ericson K]]

[[Category: Kim H-J]]

[[Category: Li J]]

[[Category: O'Maille P]]

[[Category: Selby TL]]

[[Category: Tevelev A]]

[[Category: Tsai M-D]]