CC2D2A gene homepage

General information
Gene symbol CC2D2A
Gene name coiled-coil and C2 domain containing 2A
Chromosome 4
Chromosomal band p15.33
Imprinted Unknown
Genomic reference NG_013035.1
Transcript reference NM_001080522.2
Exon/intron information NM_001080522.2 exon/intron table
Associated with diseases COACH, ID, JBTS-9, MKS-6
Citation reference(s) PubMed: Tallila al. 2008
Refseq URL Genomic reference sequence
Curators (1) Jonna Tallila
Total number of public variants reported 236
Unique public DNA variants reported 160
Individuals with public variants 282
Hidden variants 20
Download all this gene's data Download all data
Notes Only mutations associated with MKS6 are shown.
Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created February 13, 2012
Date last updated July 20, 2020
Version CC2D2A:200720

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_001080522.2.
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
External URL Orphanet
Finnish Disease Database (FinDis)
HGNC 29253
Entrez Gene 57545
PubMed articles CC2D2A
OMIM - Gene 612013
OMIM - Diseases COACH (COACH syndrome)
JBTS-9 (Joubert syndrome, type 9 (JBTS-9))
MKS-6 (Meckel syndrome, type 6 (MKS-6))
GeneCards CC2D2A
GeneTests CC2D2A

Active transcripts




NCBI ID     

NCBI Protein ID     

00000244 4 transcript variant 1 NM_001080522.2 NP_001073991.2 236

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2020. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.