The CCM2 gene homepage

This database is one of the "Vascular anomalies and lymphedema" gene variant databases.
General information
Gene symbol CCM2
Gene name cerebral cavernous malformation 2
Chromosome 7
Chromosomal band p13
Imprinted Unknown
Genomic reference NG_016295.1
Transcript reference NM_031443.3
Exon/intron information NM_031443.3 exon/intron table
Associated with diseases CCM-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Antonella Mendola
Total number of public variants reported 62
Unique public DNA variants reported 46
Individuals with public variants 16
Hidden variants 3
Download all this gene's data Download all data
Notes Aliases C7orf22 and MGC4607.
This database is one of the "Vascular anomalies and lymphedema" gene variant databases, curated by the Laboratory of Human Molecular Genetics, de Duve Institute, Brussels (Belgium).
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created March 10, 2010
Date last updated February 08, 2021
Version CCM2:210208

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_031443.3.
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 21708
Entrez Gene 83605
PubMed articles CCM2
OMIM - Gene 607929
OMIM - Diseases CCM-2 (cerebral cavernous malformations, type 2 (CCM-2))
GeneCards CCM2
GeneTests CCM2
Orphanet CCM2

Active transcripts




NCBI ID     

NCBI Protein ID     

00004616 7 transcript variant 2 NM_031443.3 NP_113631.1 62

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 © 2010-2021. 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.