COL9A2 gene homepage

General information
Gene symbol COL9A2
Gene name collagen, type IX, alpha 2
Chromosome 1
Chromosomal band p33-p32
Imprinted Unknown
Genomic reference NG_008031.1
Transcript reference NM_001852.3
Associated with diseases EDM-2, IDD, STL-5
Citation reference(s) -
Curators (1) Michael Briggs
Total number of public variants reported 130
Unique public DNA variants reported 90
Individuals with public variants 509
Hidden variants 3
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 June 24, 2020
Version COL9A2:200624

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 2218
Entrez Gene 1298
PubMed articles COL9A2
OMIM - Gene 120260
OMIM - Diseases EDM-2 (dysplasia, epiphyseal, multiple, type 2 (EDM-2))
IDD (intervertebral disc disease (IDD))
STL-5 (Stickler syndrome, type V (STL-5))
GeneCards COL9A2
GeneTests COL9A2

Active transcripts




NCBI ID     

NCBI Protein ID     

00005482 1 collagen, type IX, alpha 2 NM_001852.3 NP_001843.1 130

Copyright & disclaimer
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