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CACNA1B

Synonyms
BIII, CACNL1A5, CACNN, Cav2.2, DYT23, NEDNEH
External resources
Summary
The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene.

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
3,320
Likely pathogenic
2
VUS
20,898
Likely benign
80,296
Benign
1,494

Patient phenotypes

Proportions of phenotypes among 3313 patients carrying pathogenic or likely pathogenic variants on CACNA1B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.2%
Abnormality of the musculoskeletal system
26.2%
Abnormality of the eye
24.6%
Abnormality of head or neck
20%
Abnormality of the cardiovascular system
15.8%
Abnormality of the ear
14.6%
Growth abnormality
11.5%
Abnormality of the genitourinary system
9.1%
Abnormality of the integument
8.6%
Abnormality of limbs
8.5%
Abnormality of the digestive system
6.1%
Abnormality of the immune system
5%
Abnormality of blood and blood-forming tissues
4%
Abnormality of the respiratory system
3.3%
Abnormality of the endocrine system
3.1%
Abnormality of prenatal development or birth
2.5%
Neoplasm
1.6%
Constitutional symptom
0.7%
Abnormality of the breast
0.5%
Abnormal cellular phenotype
0.4%
Abnormality of the voice
0.3%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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