HCN4 - hyperpolarization activated cyclic nucleotide gated potassium channel 4 Gene
Also Known as SSS2; EIG18; BRGDA8
Species: Homo sapiens
About HCN4
This gene has 1 transcript (splice variant), 291 orthologues, 17 paralogues and is associated with 5 phenotypes. Biased expression in testis (RPKM 3.3), heart (RPKM 1.0) and 3 other tissues.
Summary
This gene encodes a member of the hyperpolarization-activated cyclic nucleotide-gated potassium channels. The encoded protein shows slow kinetics of activation and inactivation, and is necessary for the cardiac pacemaking process. This channel may also mediate responses to sour stimuli. Mutations in this gene have been linked to sick sinus syndrome 2, also known as atrial fibrillation with bradyarrhythmia or familial sinus bradycardia. Two pseudogenes have been identified on chromosome 15. [provided by RefSeq, Oct 2008]
HCN4 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_005477.3 | NP_005468.1 | potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
22006928 | GOA |
| enables intracellularly cAMP-activated cation channel activity |
IDA
IDA: Inferred from direct assay
|
10228147 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
33961781 | GOA |
| enables voltage-gated potassium channel activity |
IDA
IDA: Inferred from direct assay
|
16407510 | GOA |
| enables voltage-gated potassium channel activity |
IMP
IMP: Inferred from mutant phenotype
|
22748890 | GOA |
| enables voltage-gated potassium channel activity involved in SA node cell action potential depolarization |
IMP
IMP: Inferred from mutant phenotype
|
16407510 | GOA |
| enables voltage-gated sodium channel activity |
IMP
IMP: Inferred from mutant phenotype
|
22748890 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of HCN channel complex |
IDA
IDA: Inferred from direct assay
|
10228147 | GOA |
| located in perinuclear region of cytoplasm |
IDA
IDA: Inferred from direct assay
|
12750403 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
12750403 | GOA |
HCN4 Protein Structure
Ion_trans_N: Ion transport protein N-terminal (217 - 293)
Ion_trans: Ion transport protein (297 - 511)
cNMP_binding: Cyclic nucleotide-binding domain (614 - 697)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1203 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Sick Sinus Syndrome 2 |
|
|
| Brugada Syndrome 8 |
|
|
| Epilepsy, Idiopathic Generalized 18 |
|
|
| Familial Sick Sinus Syndrome |
|
|
| Sick Sinus Syndrome |
|
|
| Brugada Syndrome |
|
|
| Atrial Fibrillation |
|
|
| Sinoatrial Node Disease |
|
|
| Atrioventricular Block |
|
|
| Right Bundle Branch Block |
|
|
| Heart Disease |
|
|
| Long Qt Syndrome |
|
|
| Second-Degree Atrioventricular Block |
|
|
| Third-Degree Atrioventricular Block |
|
|
| Epilepsy, Idiopathic Generalized |
|
|
| Epilepsy |
|
|
| Heart Conduction Disease |
|
|
| Renal Tuberculosis |
|
|
| Severe Congenital Neutropenia 5 |
|
|
| Long Qt Syndrome 9 |
|
|
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
|
| Left Ventricular Noncompaction |
|
|
| Holt-Oram Syndrome |
|
|
| Long Qt Syndrome 1 |
|
|
| Wolff-Parkinson-White Syndrome |
|
|
| Isolated Elevated Serum Creatine Phosphokinase Levels |
|
|
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
|
| Ebstein Anomaly |
|
|
| Long Qt Syndrome 2 |
|
|
| Intrinsic Cardiomyopathy |
|
|
| Familial Atrial Fibrillation |
|
|
| Lipoprotein Quantitative Trait Locus |
|
|
| Orthostatic Intolerance |
|
|
| Atrial Heart Septal Defect |
|
|
| Childhood Absence Epilepsy |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Dilated Cardiomyopathy |
|
|
| Aortic Aneurysm, Familial Thoracic 1 |
|
|
| Tetralogy Of Fallot |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | HCN4 | RGD | RGD:71065 |
| Bos taurus | HCN4 | VGNC | VGNC:29779 |
| Canis familiaris | HCN4 | VGNC | VGNC:58306 |
| Felis catus | HCN4 | VGNC | VGNC:80957 |
| Mus musculus | HCN4 | MGD | MGI:1298209 |
| Macaca mulatta | HCN4 | VGNC | VGNC:73179 |
| Others | HCN4 | NCBI |