ENSG00000138622


Homo sapiens

Features
Gene ID: ENSG00000138622
  
Biological name :HCN4
  
Synonyms : HCN4 / hyperpolarization activated cyclic nucleotide gated potassium channel 4 / Q9Y3Q4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: -1
Band: q24.1
Gene start: 73319859
Gene end: 73369264
  
Corresponding Affymetrix probe sets: 206946_at (Human Genome U133 Plus 2.0 Array)   230208_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000261917
NCBI entrez gene - 10021     See in Manteia.
OMIM - 605206
RefSeq - NM_005477
RefSeq - XM_011521148
RefSeq Peptide - NP_005468
swissprot - Q9Y3Q4
Ensembl - ENSG00000138622
  
Related genetic diseases (OMIM): 163800 - Sick sinus syndrome 2, 163800
  613123 - Brugada syndrome 8, 613123
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CABZ01086574.1ENSDARG00000116404Danio rerio
 hcn4ENSDARG00000061685Danio rerio
 hcn4lENSDARG00000074419Danio rerio
 HCN4ENSGALG00000001764Gallus gallus
 Hcn4ENSMUSG00000032338Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HCN2 / Q9UL51 / hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2ENSG0000009982249
HCN1 / O60741 / hyperpolarization activated cyclic nucleotide gated potassium channel 1ENSG0000016458847
HCN3 / Q9P1Z3 / hyperpolarization activated cyclic nucleotide gated potassium channel 3ENSG0000014363044
CNGB1 / Q14028 / cyclic nucleotide gated channel beta 1ENSG0000007072915
CNGA3 / Q16281 / cyclic nucleotide gated channel alpha 3ENSG0000014419113
CNGA2 / Q16280 / cyclic nucleotide gated channel alpha 2ENSG0000018386212
CNGB3 / Q9NQW8 / cyclic nucleotide gated channel beta 3ENSG0000017028912
CNGA1 / P29973 / cyclic nucleotide gated channel alpha 1ENSG0000019851512
CNGA4 / Q8IV77 / cyclic nucleotide gated channel alpha 4ENSG0000013225911


Protein motifs (from Interpro)
Interpro ID Name
 IPR000595  Cyclic nucleotide-binding domain
 IPR003938  Potassium channel, voltage-dependent, EAG/ELK/ERG
 IPR005821  Ion transport domain
 IPR013621  Ion transport N-terminal
 IPR014710  RmlC-like jelly roll fold
 IPR018488  Cyclic nucleotide-binding, conserved site
 IPR018490  Cyclic nucleotide-binding-like
 IPR030173  Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002027 regulation of heart rate IMP
 biological_processGO:0003254 regulation of membrane depolarization IDA
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006812 cation transport IDA
 biological_processGO:0006813 potassium ion transport IEA
 biological_processGO:0006814 sodium ion transport IEA
 biological_processGO:0006936 muscle contraction TAS
 biological_processGO:0008015 blood circulation NAS
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0035725 sodium ion transmembrane transport IMP
 biological_processGO:0042391 regulation of membrane potential IMP
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0055117 regulation of cardiac muscle contraction IMP
 biological_processGO:0071320 cellular response to cAMP IDA
 biological_processGO:0071321 cellular response to cGMP IDA
 biological_processGO:0071805 potassium ion transmembrane transport IMP
 biological_processGO:0086012 membrane depolarization during cardiac muscle cell action potential IC
 biological_processGO:0086015 SA node cell action potential IMP
 biological_processGO:0086046 membrane depolarization during SA node cell action potential IMP
 biological_processGO:0086091 regulation of heart rate by cardiac conduction IMP
 biological_processGO:0098719 sodium ion import across plasma membrane IDA
 biological_processGO:0098909 regulation of cardiac muscle cell action potential involved in regulation of contraction IMP
 biological_processGO:1990573 potassium ion import across plasma membrane IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031226 intrinsic component of plasma membrane IDA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 cellular_componentGO:0098855 HCN channel complex IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005222 intracellular cAMP activated cation channel activity IDA
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005248 voltage-gated sodium channel activity IMP
 molecular_functionGO:0005249 voltage-gated potassium channel activity IMP
 molecular_functionGO:0005267 potassium channel activity IEA
 molecular_functionGO:0005272 sodium channel activity IEA
 molecular_functionGO:0030552 cAMP binding IEA
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0086041 voltage-gated potassium channel activity involved in SA node cell action potential depolarization IMP


Pathways (from Reactome)
Pathway description
HCN channels


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 HP:0001634 Mitral valve prolapse 
Show

 HP:0001659 Aortic insufficiency "An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle." [HPO:curators]
Show

 HP:0001663 Ventricular fibrillation 
Show

 HP:0001688 Sinus bradycardia 
Show

 HP:0001695 Cardiac arrest 
Show

 HP:0001712 Left ventricular hypertrophy 
Show

 HP:0003577 Onset at birth 
Show

 HP:0004756 Ventricular tachycardia 
Show

 HP:0005110 Atrial fibrillation 
Show

 HP:0011704 Sick sinus syndrome 
Show

 HP:0012251 ST segment elevation "An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line." [HPO:probinson]
Show

 HP:0030682 Left ventricular noncompaction "Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer." [PMID:16670098, PMID:25443708]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000138622 HCN4 / Q9Y3Q4 / hyperpolarization activated cyclic nucleotide gated potassium channel 4  / complex






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr