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HCN2

Synonyms
BCNG-2, BCNG2, EIG17, FEB2, GEFSP11, HAC-1
External resources
Summary
The protein encoded by this gene is a hyperpolarization-activated cation channel involved in the generation of native pacemaker activity in the heart and in the brain. The encoded protein is activated by cAMP and can produce a fast, large current. Defects in this gene were noted as a possible cause of some forms of epilepsy.

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
54
Likely pathogenic
1
VUS
4,966
Likely benign
6,272
Benign
16,833

Patient phenotypes

Proportions of phenotypes among 50 patients carrying pathogenic or likely pathogenic variants on HCN2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46%
Abnormality of the eye
26%
Abnormality of head or neck
24%
Abnormality of the musculoskeletal system
24%
Abnormality of the ear
20%
Abnormality of the cardiovascular system
18%
Growth abnormality
16%
Abnormality of the integument
14%
Abnormality of the genitourinary system
12%
Abnormality of the immune system
12%
Abnormality of limbs
10%
Abnormality of the digestive system
4%
Abnormality of the endocrine system
4%
Abnormality of the respiratory system
4%
Abnormality of blood and blood-forming tissues
2%
Constitutional symptom
2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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