ENSG00000130037


Homo sapiens

Features
Gene ID: ENSG00000130037
  
Biological name :KCNA5
  
Synonyms : KCNA5 / P22460 / potassium voltage-gated channel subfamily A member 5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: p13.32
Gene start: 5043989
Gene end: 5046788
  
Corresponding Affymetrix probe sets: 206762_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000252321
NCBI entrez gene - 3741     See in Manteia.
OMIM - 176267
RefSeq - NM_002234
RefSeq Peptide - NP_002225
swissprot - P22460
Ensembl - ENSG00000130037
  
Related genetic diseases (OMIM): 612240 - Atrial fibrillation, familial, 7, 612240
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
 Kcna5ENSMUSG00000045534Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KCNA3 / P22001 / potassium voltage-gated channel subfamily A member 3ENSG0000017727256
KCNA4 / P22459 / potassium voltage-gated channel subfamily A member 4ENSG0000018225556
KCNA2 / P16389 / potassium voltage-gated channel subfamily A member 2ENSG0000017730156
KCNA6 / P17658 / potassium voltage-gated channel subfamily A member 6ENSG0000015107955
KCNA1 / Q09470 / potassium voltage-gated channel subfamily A member 1ENSG0000011126254
KCNA10 / Q16322 / potassium voltage-gated channel subfamily A member 10ENSG0000014310551
KCNA7 / Q96RP8 / potassium voltage-gated channel subfamily A member 7ENSG0000010484846
KCNC3 / Q14003 / potassium voltage-gated channel subfamily C member 3ENSG0000013139831
KCND1 / Q9NSA2 / potassium voltage-gated channel subfamily D member 1ENSG0000010205730
KCND3 / Q9UK17 / potassium voltage-gated channel subfamily D member 3ENSG0000017138529
KCNC4 / Q03721 / potassium voltage-gated channel subfamily C member 4ENSG0000011639629
KCND2 / Q9NZV8 / potassium voltage-gated channel subfamily D member 2ENSG0000018440829
KCNC1 / P48547 / potassium voltage-gated channel subfamily C member 1ENSG0000012915929
KCNC2 / Q96PR1 / potassium voltage-gated channel subfamily C member 2ENSG0000016600629


Protein motifs (from Interpro)
Interpro ID Name
 IPR000210  BTB/POZ domain
 IPR003131  Potassium channel tetramerisation-type BTB domain
 IPR003968  Potassium channel, voltage dependent, Kv
 IPR003972  Potassium channel, voltage dependent, Kv1
 IPR004052  Potassium channel, voltage dependent, Kv1.5
 IPR005821  Ion transport domain
 IPR011333  SKP1/BTB/POZ domain superfamily
 IPR028325  Voltage-gated potassium channel


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006813 potassium ion transport IDA
 biological_processGO:0007219 Notch signaling pathway IEA
 biological_processGO:0009612 response to mechanical stimulus IEA
 biological_processGO:0010033 response to organic substance IEA
 biological_processGO:0019229 regulation of vasoconstriction IEA
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0042391 regulation of membrane potential IEA
 biological_processGO:0042542 response to hydrogen peroxide IEA
 biological_processGO:0043266 regulation of potassium ion transport IMP
 biological_processGO:0043267 negative regulation of potassium ion transport IEA
 biological_processGO:0050796 regulation of insulin secretion TAS
 biological_processGO:0051259 protein complex oligomerization IEA
 biological_processGO:0051260 protein homooligomerization IEA
 biological_processGO:0051481 negative regulation of cytosolic calcium ion concentration IEA
 biological_processGO:0055075 potassium ion homeostasis IEA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0055093 response to hyperoxia IEA
 biological_processGO:0060081 membrane hyperpolarization IMP
 biological_processGO:0060372 regulation of atrial cardiac muscle cell membrane repolarization IMP
 biological_processGO:0065009 regulation of molecular function IEA
 biological_processGO:0071435 potassium ion export IMP
 biological_processGO:0071805 potassium ion transmembrane transport IEA
 biological_processGO:0086014 atrial cardiac muscle cell action potential IMP
 biological_processGO:0086050 membrane repolarization during bundle of His cell action potential IMP
 biological_processGO:0086052 membrane repolarization during SA node cell action potential TAS
 biological_processGO:0086091 regulation of heart rate by cardiac conduction IMP
 biological_processGO:0098914 membrane repolarization during atrial cardiac muscle cell action potential IMP
 biological_processGO:1900087 positive regulation of G1/S transition of mitotic cell cycle IEA
 biological_processGO:2000288 positive regulation of myoblast proliferation IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005887 integral component of plasma membrane IEA
 cellular_componentGO:0005901 caveola TAS
 cellular_componentGO:0008076 voltage-gated potassium channel complex IDA
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0014704 intercalated disc IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030018 Z disc IEA
 cellular_componentGO:0034705 potassium channel complex IEA
 cellular_componentGO:0045121 membrane raft IDA
 cellular_componentGO:0046691 intracellular canaliculus IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 molecular_functionGO:0005102 signaling receptor binding IEA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005249 voltage-gated potassium channel activity IEA
 molecular_functionGO:0005251 delayed rectifier potassium channel activity IEA
 molecular_functionGO:0005267 potassium channel activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015271 outward rectifier potassium channel activity IMP
 molecular_functionGO:0019870 potassium channel inhibitor activity IEA
 molecular_functionGO:0019901 protein kinase binding IPI
 molecular_functionGO:0051393 alpha-actinin binding IPI
 molecular_functionGO:0086087 voltage-gated potassium channel activity involved in bundle of His cell action potential repolarization IMP
 molecular_functionGO:0086089 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization IMP
 molecular_functionGO:0086090 voltage-gated potassium channel activity involved in SA node cell action potential repolarization IMP
 molecular_functionGO:0097110 scaffold protein binding IPI


Pathways (from Reactome)
Pathway description
Voltage gated Potassium 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:0001962 Palpitations 
Show

 HP:0004757 paroxysmal atrial fibrillation 
Show

 HP:0005184 Prolonged QTc interval 
Show

 HP:0012248 Prolonged PR interval "Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex)." [HPO:probinson]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

1 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