The COL11A2 gene homepage

General information
Gene symbol COL11A2
Gene name collagen, type XI, alpha 2
Chromosome 6
Chromosomal band p21.3
Imprinted Not imprinted
Genomic reference NG_011589.1
Transcript reference NM_080680.2
Exon/intron information NM_080680.2 exon/intron table
Associated with diseases DFNA-13, DFNB-53, FBCG-2, OSMED, STL-3, WZS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 281
Unique public DNA variants reported 199
Individuals with public variants 235
Hidden variants 10
Download all this gene's data Download all data
Date created May 03, 2013
Date last updated March 18, 2021
Version COL11A2:210318

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_080680.2.
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 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))
GeneCards COL11A2
GeneTests COL11A2
Orphanet COL11A2

Active transcripts




NCBI ID     

NCBI Protein ID     

00024025 6 transcript variant 1 NM_080680.2 NP_542411.2 281

Copyright & disclaimer
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