The COL11A2 gene homepage

General information
Gene symbol COL11A2
Gene name collagen, type XI, alpha 2
Chromosome 6
Chromosomal band p21.3
Imprinted Unknown
Genomic reference NG_011589.1
Transcript reference NM_001163771.1, NM_080679.2, NM_080680.2, NM_080681.2
Associated with diseases DFNA-13, DFNB-53, FBCG-2, OSMED, STL-3, WZS
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 529
Unique public DNA variants reported 41
Individuals with public variants 35
Hidden variants 129
Date created November 30, -0001
Date last updated September 28, 2016
Version COL11A2:160928

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:2187
Entrez Gene 1302
PubMed articles COL11A2
OMIM - Gene 120290
OMIM - Diseases DFNA-13 (deafness, autosomal dominant, type 13 (DFNA-13))
DFNB-53 (deafness, autosomal recessive, type 53 (DFNB-53))
FBCG-2 (fibrochondrogenesis, type 2 (FBCG-2))
OSMED (dysplasia, otospondylomegaepiphyseal (OSMED))
STL-3 (Stickler syndrome, type III (STL-3))
WZS (Weissenbacher-Zweymuller syndrome (WZS))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00028308 6 transcript variant 1 NM_080680.2 NP_542411.2 529
00028307 6 transcript variant 2 NM_080681.2 NP_542412.2 496
00028306 6 transcript variant 3 NM_080679.2 NP_542410.2 474
00030995 6 Manually created transcript NM_001163771.1 - 101