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CACNA2D2

Chr 3p21.31

calcium voltage-gated channel auxiliary subunit alpha2delta 2

Aliases:
KIAA0558, alpha2delta-2
MANE:
ENST00000424201.7
OMIM: 607082 ↗NCBI: 9254 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal

  • Hereditary ataxia

    BIALLELIC, autosomal or pseudoautosomal

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • cerebellar atrophy, developmental delay, and seizures

    0.74

  • epilepsy

    0.70

  • Seizure

    0.60

  • neuropathic pain

    0.60

  • fibromyalgia

    0.60

  • anxiety disorder

    0.60

  • restless legs syndrome

    0.59

  • genetic developmental and epileptic encephalopathy

    0.58

  • early-infantile DEE

    0.57

  • postherpetic neuralgia

    0.57

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Voltage-dependent calcium channel subunit alpha-2/delta-2

The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) and possibly T-type (CACNA1G) (PubMed:15111129, PubMed:23339110). Overexpression induces apoptosis

Diseases associated with CACNA2D2

Curated MONDO disease pages that list CACNA2D2 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.