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EIG17

Chr 19AD

hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2

Also known as: BCNG-2, BCNG2, EIG17, FEB2, GEFSP11, HAC-1

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. [provided by RefSeq, Jan 2017]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Febrile seizures, familial, 2MIM #602477
AD
Generalized epilepsy with febrile seizures plus, type 11MIM #602477
AD
{Epilepsy, idiopathic generalized, susceptibility to, 17}MIM #602477
AD

Clinical highlights

Gene–disease validity
Not independently assessedOMIM lists Febrile seizures, familial; Generalized epilepsy with febrile seizures plus, type 11; no ClinGen or GenCC tier
0
Active trials
0
Pubs (1 yr)
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P/LP submissions
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P/LP missense
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LOEUF
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Mechanism
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/EIG17?content-type=application/json

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

EIG17 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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