The PDGFRA gene homepage
General information |
Gene symbol |
PDGFRA |
Gene name |
platelet-derived growth factor receptor, alpha polypeptide |
Chromosome |
4 |
Chromosomal band |
q12 |
Imprinted |
- |
Genomic reference |
NG_009250.1 |
Transcript reference |
NM_006206.4 |
Associated with diseases |
WD |
Citation reference(s) |
Pan M et al, 2011 Zhang T et al, 2010 |
Refseq URL |
Coding DNA reference sequence |
Curators (0) |
- |
Total number of public variants reported |
72 |
Unique public DNA variants reported |
66 |
Individuals with public variants |
0 |
Hidden variants |
- |
Notes |
This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012] Also known as: CD140A; PDGFR2; PDGFR-2; RHEPDGFRA |
Date created |
May 02, 2013 |
Active transcripts
Copyright & disclaimer |
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2024. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.
We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided. |
|
|