Back to discover

CC2D2A

Gene

coiled-coil and C2 domain containing 2A

HGNCHGNC:29253EnsemblENSG00000048342NCBI Gene57545
Locus: gene with protein productLocation: 4p15.32

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asKIAA1345 · MKS6 · JBTS9
View full nomenclature history (4)
Alias symbolsKIAA1345, MKS6, JBTS9
Alias namesMeckel syndrome, type 6

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Ciliopathy
Genetic Diseases, Inborn

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

MKS complex

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.
Open TargetsGene–disease associations from the Open Targets Platform.