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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

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
54
Likely pathogenic
1
VUS
9,926
Likely benign
3,026
Benign
0

Patient phenotypes

Proportions of phenotypes among 55 patients carring pathogenic or likely pathogenic variants on CACNA2D4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
38.2%
Abnormality of the nervous system
30.9%
Abnormality of the cardiovascular system
23.6%
Abnormality of the genitourinary system
14.5%
Abnormality of the musculoskeletal system
14.5%
Growth abnormality
14.5%
Abnormality of head or neck
12.7%
Abnormality of the ear
12.7%
Abnormality of the integument
10.9%
Abnormality of the digestive system
7.3%
Abnormality of the endocrine system
7.3%
Abnormality of limbs
5.5%
Abnormality of blood and blood-forming tissues
3.6%
Abnormality of prenatal development or birth
3.6%
Abnormality of the immune system
1.8%
Abnormality of the respiratory system
1.8%
Constitutional symptom
1.8%
Neoplasm
1.8%
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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