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 is a hyperpolarization-activated cation channel that generates pacemaker activity in the heart and brain and is activated by cAMP to produce fast, large currents. Mutations cause generalized epilepsy with febrile seizures plus type 11 and familial febrile seizures, with inheritance following an autosomal dominant pattern. The epilepsy phenotypes typically involve febrile seizures that may progress to other generalized seizure types.

Summary from RefSeq, OMIM
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Primary Disease Associations & Inheritance

Generalized epilepsy with febrile seizures plus, type 11MIM #602477
AD
{Epilepsy, idiopathic generalized, susceptibility to, 17}MIM #602477
AD
Febrile seizures, familial, 2MIM #602477
AD
0
Active trials
0
Pubs (1 yr)
0
P/LP submissions
P/LP missense
LOEUF
Mechanism
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/EIG17?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

EIG17 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found