CC2D1A

Gene

coiled-coil and C2 domain containing 1A

HGNCHGNC:30237 EnsemblENSG00000132024 NCBI Gene54862

Locus: gene with protein productLocation: 19p13.12

Also known as

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

Also known asAki-1 · FLJ20241 · MRT3 · Freud-1 · Lgd2 · TAPE

View full nomenclature history (11)

Alias symbolsAki-1, FLJ20241, MRT3, Freud-1, Lgd2, TAPE

Alias namesmental retardation, nonsyndromic, autosomal recessive, 3, Five prime repressor element under dual repression-binding protein 1, lethal (2) giant discs homolog 2, TBK1-associated protein in endolysosomes, Akt Kinase-Interacting Protein 1

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.

Autosomal recessive non-syndromic intellectual disability

Complex neurodevelopmental disorder

Ciliopathy

Genetic Diseases, Inborn

Autistic Disorder

Cerebral Palsy

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.

C2 domain containing

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.

Open TargetsGene–disease associations from the Open Targets Platform.