The 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 LRG_697
Transcript reference NM_001080522.2
Exon/intron information NM_001080522.2 exon/intron table
Associated with diseases COACH, ID, JBTS9, MKS, MKS6, RP, RP93
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Jonna Tallila
Total number of public variants reported 517
Unique public DNA variants reported 248
Individuals with public variants 434
Hidden variants 18
Download all this gene's data Download all data
Notes 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 November 28, 2023
Version CC2D2A:231128

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
Homepage URL
External URL Finnish Disease Database (FinDis)
HGNC 29253
Entrez Gene 57545
PubMed articles CC2D2A
OMIM - Gene 612013
OMIM - Diseases COACH (COACH syndrome)
JBTS9 (Joubert syndrome, type 9 (JBTS-9))
MKS6 (Meckel syndrome, type 6)
RP (retinitis pigmentosa (RP))
RP93 (retinitis pigmentosa, type 93)
GeneCards CC2D2A
GeneTests CC2D2A
Orphanet CC2D2A

Active transcripts




NCBI ID     

NCBI Protein ID     

00000244 4 transcript variant 1 NM_001080522.2 NP_001073991.2 517

Copyright & disclaimer
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