HCN3

Chr 1

hyperpolarization activated cyclic nucleotide gated potassium channel 3

NCBI Gene: 57657ENSG00000143630UniProt: Q9P1Z3

This gene encodes a multi-pass membrane protein that functions as a voltage gated cation channel. The encoded protein is a member of a family of closely related cyclic adenosine monophosphate-binding channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

ResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.74
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.74LOEUF
pLI 0.000
Z-score 2.57
OE 0.46 (0.29–0.74)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.52Z-score
OE missense 0.81 (0.75–0.88)
424 obs / 521.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.46 (0.29–0.74)
0≤0.351.4
Missense OE?0.81 (0.75–0.88)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 12 / 26.2Missense obs/exp: 424 / 521.7Syn Z: 1.13

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HCN3 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients