C2CD2L (O14523) variants and mutations

C2CD2L (also known as O14523) is a human protein-coding gene encoding a phospholipid transfer protein. It transfers phosphatidylinositol from the endoplasmic reticulum to the cell membrane at contact sites between these membranes. By replenishing phosphoinositides used in signaling, it couples calcium signals to membrane lipid supply and supports glucose-stimulated insulin secretion. This analysis covers 1,050 C2CD2L variants and mutations. Of these, 100% have computational variant effect predictions. Disease context includes neurodegenerative disease, hearing loss, autosomal recessive, and metabolic syndrome. Example C2CD2L variants include D2G, D2N, and D2Y.

Variant analysis overview

Gene: C2CD2L
Protein: O14523
UniProt accession: O14523
Organism: Homo sapiens
Variants analyzed: 1050
Variant scope: all variants
Completed: 2026-10-09

Variant and mutation evidence

Variant composition: 687 unspecified-consequence records; 223 missense variants; 106 synonymous variants; 17 frameshift variants; 13 stop-gained variants; 2 in-frame deletions; 2 splice-region variants
Prediction scores: 1,049 variants have prediction scores (100% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: neurodegenerative disease, hearing loss, autosomal recessive, metabolic syndrome, deafness, autosomal dominant nonsyndromic hearing loss, episodic ataxia type 7, autosomal recessive nonsyndromic hearing loss 70, Meniere disease, episodic ataxia type 3, autosomal dominant nonsyndromic hearing loss 2A, auditory neuropathy, autosomal dominant 3, Usher syndrome type 1.

Protein structure and variant hotspots

Protein features: 1 transmembrane segments; 2 domains; 18 post-translational modification sites.
Structural context: 493 variants have structural context.
PTM context: 14 variants overlap post-translational modification sites.

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable C2CD2L variants

Examples include D2G, D2N, D2Y, P3S, P3T, P3Q, P3L, P3P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

C2CD2L analysis run — C2CD2L (1,050 variants) — completed 2026-10-09