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 EDM3, IDD
Citation reference(s) -
Curators (1) Michael Briggs
Total number of public variants reported 181
Unique public DNA variants reported 131
Individuals with public variants 208
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 November 25, 2023
Version COL9A3:231125

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
HGNC 2219
Entrez Gene 1299
PubMed articles COL9A3
OMIM - Gene 120270
OMIM - Diseases EDM3 (dysplasia, epiphyseal, multiple, type 3 (EDM-3))
IDD (intervertebral disc disease (IDD))
GeneCards COL9A3
GeneTests COL9A3
Orphanet COL9A3

Active transcripts




NCBI ID     

NCBI Protein ID     

00005483 20 collagen, type IX, alpha 3 NM_001853.3 NP_001844.3 181

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