ENSG00000120457


Homo sapiens

Features
Gene ID: ENSG00000120457
  
Biological name :KCNJ5
  
Synonyms : KCNJ5 / P48544 / potassium voltage-gated channel subfamily J member 5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: q24.3
Gene start: 128891356
Gene end: 128921035
  
Corresponding Affymetrix probe sets: 208397_x_at (Human Genome U133 Plus 2.0 Array)   208404_x_at (Human Genome U133 Plus 2.0 Array)   211304_x_at (Human Genome U133 Plus 2.0 Array)   211817_s_at (Human Genome U133 Plus 2.0 Array)   237186_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000339960
Ensembl peptide - ENSP00000433295
Ensembl peptide - ENSP00000434266
NCBI entrez gene - 3762     See in Manteia.
RefSeq - XM_011542810
RefSeq - NM_000890
RefSeq - NM_001354169
RefSeq - XM_011542809
RefSeq Peptide - NP_000881
RefSeq Peptide - NP_001341098
swissprot - P48544
Ensembl - ENSG00000120457
  
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
 kcnj5ENSDARG00000061014Danio rerio
 KCNJ5ENSGALG00000001181Gallus gallus
 Kcnj5ENSMUSG00000032034Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KCNJ6 / P48051 / potassium voltage-gated channel subfamily J member 6ENSG0000015754271
KCNJ9 / Q92806 / potassium voltage-gated channel subfamily J member 9ENSG0000016272862
KCNJ3 / P48549 / potassium voltage-gated channel subfamily J member 3ENSG0000016298955
B7U540 / KCNJ18 / potassium voltage-gated channel subfamily J member 18ENSG0000026045845
KCNJ2 / P63252 / potassium voltage-gated channel subfamily J member 2ENSG0000012370045
KCNJ12 / Q14500 / potassium voltage-gated channel subfamily J member 12ENSG0000018418545
KCNJ4 / P48050 / potassium voltage-gated channel subfamily J member 4ENSG0000016813544
KCNJ14 / Q9UNX9 / potassium voltage-gated channel subfamily J member 14ENSG0000018232441
KCNJ8 / Q15842 / potassium voltage-gated channel subfamily J member 8ENSG0000012136139
KCNJ11 / Q14654 / potassium voltage-gated channel subfamily J member 11ENSG0000018748638
KCNJ1 / P48048 / potassium voltage-gated channel subfamily J member 1ENSG0000015170437
KCNJ10 / P78508 / potassium voltage-gated channel subfamily J member 10ENSG0000017780732
KCNJ15 / Q99712 / potassium voltage-gated channel subfamily J member 15ENSG0000015755130


Protein motifs (from Interpro)
Interpro ID Name
 IPR003277  Potassium channel, inwardly rectifying, Kir3.4
 IPR013518  Potassium channel, inwardly rectifying, Kir, cytoplasmic
 IPR014756  Immunoglobulin E-set
 IPR016449  Potassium channel, inwardly rectifying, Kir


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006813 potassium ion transport TAS
 biological_processGO:0010107 potassium ion import IDA
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 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:0098915 membrane repolarization during ventricular cardiac muscle cell action potential IEA
 biological_processGO:0099625 ventricular cardiac muscle cell membrane repolarization IC
 biological_processGO:1990573 potassium ion import across plasma membrane IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0008076 voltage-gated potassium channel complex IDA
 cellular_componentGO:0009897 external side of plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030315 T-tubule IEA
 molecular_functionGO:0005242 inward rectifier potassium channel activity IDA
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015467 G-protein activated inward rectifier potassium channel activity TAS
 molecular_functionGO:0086089 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization IMP
 molecular_functionGO:1902282 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization IC


Pathways (from Reactome)
Pathway description
Activation of G protein gated Potassium channels
Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits


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:0000103 Polyuria 
Show

 HP:0000360 Tinnitus "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation." [Cochrane:ab005233]
Show

 HP:0000421 Epistaxis 
Show

 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
Show

 HP:0000859 Increased plasma aldosterone 
Show

 HP:0001279 Syncope "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. This term refers to an abnormally increased disposition to syncope." [HPO:curators]
Show

 HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
Show

 HP:0001635 Congestive heart failure "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators]
Show

 HP:0001657 Prolonged QT interval on EKG 
Show

 HP:0001677 Coronary artery disease 
Show

 HP:0001678 Atrioventricular block 
Show

 HP:0001695 Cardiac arrest 
Show

 HP:0001712 Left ventricular hypertrophy 
Show

 HP:0001942 Metabolic acidosis 
Show

 HP:0001959 Polydipsia 
Show

 HP:0002018 Nausea 
Show

 HP:0002150 Hypercalciuria 
Show

 HP:0002170 Intracranial hemorrhage "A hemorrhage (bleeding) occuring within the skull." [HPO:curators]
Show

 HP:0002204 Pulmonary embolism 
Show

 HP:0002315 Headache "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators]
Show

 HP:0002900 Hypokalemia 
Show

 HP:0003351 Decreased renin 
Show

 HP:0004757 paroxysmal atrial fibrillation 
Show

 HP:0005110 Atrial fibrillation 
Show

 HP:0008221 Enlarged adrenal glands 
Show

 HP:0011740 Glucocortocoid-insensitive primary hyperaldosteronism "A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids." [DDD:spark, HPO:probinson]
Show

 HP:0040084 Abnormal circulating renin 
Show

 HP:0200114 Metabolic alkalosis 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000157542 KCNJ6 / P48051 / potassium voltage-gated channel subfamily J member 6  / complex
 ENSG00000120457 KCNJ5 / P48544 / potassium voltage-gated channel subfamily J member 5  / complex
 ENSG00000162728 KCNJ9 / Q92806 / potassium voltage-gated channel subfamily J member 9  / complex
 ENSG00000078369 GNB1 / P62873 / G protein subunit beta 1  / complex
 ENSG00000136928 GABBR2 / O75899 / gamma-aminobutyric acid type B receptor subunit 2  / complex
 ENSG00000172354 GNB2 / P62879 / G protein subunit beta 2  / complex
 ENSG00000204681 GABBR1 / Q9UBS5 / gamma-aminobutyric acid type B receptor subunit 1  / complex
 ENSG00000111664 GNB3 / P16520 / G protein subunit beta 3  / complex
 ENSG00000162989 KCNJ3 / P48549 / potassium voltage-gated channel subfamily J member 3  / complex






 

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