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CACNA2D4

Synonyms
RCD4
External resources
Summary
This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
68
Likely pathogenic
0
VUS
12,518
Likely benign
7,711
Benign
110

Patient phenotypes

Proportions of phenotypes among 68 patients carrying pathogenic or likely pathogenic variants on CACNA2D4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
29.4%
Abnormality of the nervous system
29.4%
Abnormality of the cardiovascular system
25%
Abnormality of the genitourinary system
16.2%
Abnormality of the musculoskeletal system
13.2%
Abnormality of the ear
11.8%
Abnormality of head or neck
10.3%
Abnormality of the integument
10.3%
Growth abnormality
10.3%
Abnormality of the digestive system
8.8%
Abnormality of the endocrine system
7.4%
Abnormality of blood and blood-forming tissues
4.4%
Abnormality of the immune system
4.4%
Abnormality of limbs
2.9%
Abnormality of prenatal development or birth
2.9%
Constitutional symptom
2.9%
Abnormality of the respiratory system
1.5%
Neoplasm
1.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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