View gene COL11A2

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
Associated with diseases DFNA-13, DFNB-53, FBCG-2, OSMED, STL-3, WZS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Date created May 03, 2013

Links to other resources
Homepage URL http://www.LOVD.nl/COL11A2
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))
HGMD COL11A2
GeneCards COL11A2
GeneTests COL11A2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024025 6 transcript variant 1 NM_080680.2 NP_542411.2 0


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