The COL9A3 gene homepage

General information
Gene symbol COL9A3
Gene name collagen, type IX, alpha 3
Chromosome 20
Chromosomal band q13.3
Imprinted Unknown
Genomic reference NG_016353.1
Transcript reference NM_001853.3
Associated with diseases EDM-3, IDD
Citation reference(s) -
Curators (1) Michael Briggs
Total number of public variants reported 131
Unique public DNA variants reported 96
Individuals with public variants 195
Hidden variants 11
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated September 15, 2020
Version COL9A3:200915

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Orphanet
HGNC 2219
Entrez Gene 1299
PubMed articles COL9A3
OMIM - Gene 120270
OMIM - Diseases EDM-3 (dysplasia, epiphyseal, multiple, type 3 (EDM-3))
IDD (intervertebral disc disease (IDD))
GeneCards COL9A3
GeneTests COL9A3

Active transcripts




NCBI ID     

NCBI Protein ID     

00005483 20 collagen, type IX, alpha 3 NM_001853.3 NP_001844.3 131

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised 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 © 2010-2020. 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 out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the 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.