IRF2BPL
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
Interferon regulatory factor 2 binding protein like is a protein that in humans is encoded by the IRF2BPL gene.{{cite journal | vauthors = Rampazzo A, Pivotto F, Occhi G, Tiso N, Bortoluzzi S, Rowen L, Hood L, Nava A, Danieli GA | title = Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region | journal = Biochemical and Biophysical Research Communications | volume = 278 | issue = 3 | pages = 766–74 | date = Nov 2000 | pmid = 11095982 | doi = 10.1006/bbrc.2000.3883 }}{{cite journal | vauthors = Heger S, Mastronardi C, Dissen GA, Lomniczi A, Cabrera R, Roth CL, Jung H, Galimi F, Sippell W, Ojeda SR | title = Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis | journal = The Journal of Clinical Investigation | volume = 117 | issue = 8 | pages = 2145–54 | date = Aug 2007 | pmid = 17627301 | pmc = 1906733 | doi = 10.1172/JCI31752 }}{{cite web | title = IRF2BPL interferon regulatory factor 2 binding protein like [ Homo sapiens (human) ]| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64207}} Mutations are associated with neurological problems.{{cite journal|title=IRF2BPL Is Associated with Neurological Phenotypes|journal=American Journal of Human Genetics |volume=103 |issue=2 |pages=245–260 |author=Paul C. Marcogliese|display-authors=etal|doi=10.1016/j.ajhg.2018.07.006|pmid=30057031 |year=2018 |pmc=6081494 }} More specifically, mutations of the gene cause the NEDAMSS syndrome, whose abbreviation stands for NEurodevelopmental Disorder with regression, Abnormal Movements, loss of Speech, and Seizures, first described in 2018.
References
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External links
- {{UCSC gene info|IRF2BPL}}
- Parent Group Europe [http://irf2bpl.de/ http://irf2bpl.de]
Further reading
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- {{cite journal | vauthors = Bonaldo MF, Lennon G, Soares MB | title = Normalization and subtraction: two approaches to facilitate gene discovery | journal = Genome Research | volume = 6 | issue = 9 | pages = 791–806 | date = Sep 1996 | pmid = 8889548 | doi = 10.1101/gr.6.9.791 | doi-access = free }}
- {{cite journal | vauthors = Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O | title = Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro | journal = DNA Research | volume = 8 | issue = 2 | pages = 85–95 | date = Apr 2001 | pmid = 11347906 | doi = 10.1093/dnares/8.2.85 | doi-access = free }}
- {{cite journal | vauthors = Scott MP, Zappacosta F, Kim EY, Annan RS, Miller WT | title = Identification of novel SH3 domain ligands for the Src family kinase Hck. Wiskott-Aldrich syndrome protein (WASP), WASP-interacting protein (WIP), and ELMO1 | journal = The Journal of Biological Chemistry | volume = 277 | issue = 31 | pages = 28238–46 | date = Aug 2002 | pmid = 12029088 | doi = 10.1074/jbc.M202783200 | doi-access = free }}
- {{cite journal | vauthors = Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP | title = Large-scale characterization of HeLa cell nuclear phosphoproteins | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 101 | issue = 33 | pages = 12130–5 | date = Aug 2004 | pmid = 15302935 | pmc = 514446 | doi = 10.1073/pnas.0404720101 | bibcode = 2004PNAS..10112130B | doi-access = free }}
- {{cite journal | vauthors = Ballif BA, Villén J, Beausoleil SA, Schwartz D, Gygi SP | title = Phosphoproteomic analysis of the developing mouse brain | journal = Molecular & Cellular Proteomics | volume = 3 | issue = 11 | pages = 1093–101 | date = Nov 2004 | pmid = 15345747 | doi = 10.1074/mcp.M400085-MCP200 | doi-access = free }}
- {{cite journal | vauthors = Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M | title = Global, in vivo, and site-specific phosphorylation dynamics in signaling networks | journal = Cell | volume = 127 | issue = 3 | pages = 635–48 | date = Nov 2006 | pmid = 17081983 | doi = 10.1016/j.cell.2006.09.026 | doi-access = free }}
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{{PDB Gallery|geneid=64207}}
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