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) Tallila al. 2008
Refseq URL Genomic reference sequence
Curators (1) Jonna Tallila
Total number of public variants reported 34
Unique public DNA variants reported 31
Individuals with public variants 8
Hidden variants 0
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 May 05, 2017
Version CC2D2A:170505

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))
HGMD CC2D2A
GeneCards CC2D2A
GeneTests CC2D2A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000244 4 transcript variant 1 NM_001080522.2 NP_001073991.2 34


Copyright & disclaimer
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