ENSG00000260458


Homo sapiens

Features
Gene ID: ENSG00000260458
  
Biological name :KCNJ18
  
Synonyms : B7U540 / KCNJ18 / potassium voltage-gated channel subfamily J member 18
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: p11.2
Gene start: 21692523
Gene end: 21704612
  
Corresponding Affymetrix probe sets: 207110_at (Human Genome U133 Plus 2.0 Array)   208567_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000457807
NCBI entrez gene - 100134444     See in Manteia.
OMIM - 613236
RefSeq - NM_001194958
RefSeq Peptide - NP_001181887
swissprot - B7U540
Ensembl - ENSG00000260458
  
Related genetic diseases (OMIM): 613239 - {Thyrotoxic periodic paralysis, susceptibility to, 2}, 613239
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
 kcnj12aENSDARG00000104965Danio rerio
 F1NHE9ENSGALG00000004721Gallus gallus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KCNJ12 / Q14500 / potassium voltage-gated channel subfamily J member 12ENSG0000018418599
KCNJ2 / P63252 / potassium voltage-gated channel subfamily J member 2ENSG0000012370069
KCNJ4 / P48050 / potassium voltage-gated channel subfamily J member 4ENSG0000016813565
KCNJ14 / Q9UNX9 / potassium voltage-gated channel subfamily J member 14ENSG0000018232456
KCNJ9 / Q92806 / potassium voltage-gated channel subfamily J member 9ENSG0000016272845
KCNJ3 / P48549 / potassium voltage-gated channel subfamily J member 3ENSG0000016298943
KCNJ5 / P48544 / potassium voltage-gated channel subfamily J member 5ENSG0000012045743
KCNJ6 / P48051 / potassium voltage-gated channel subfamily J member 6ENSG0000015754242
KCNJ8 / Q15842 / potassium voltage-gated channel subfamily J member 8ENSG0000012136140
KCNJ11 / Q14654 / potassium voltage-gated channel subfamily J member 11ENSG0000018748640
KCNJ1 / P48048 / potassium voltage-gated channel subfamily J member 1ENSG0000015170437
KCNJ10 / P78508 / potassium voltage-gated channel subfamily J member 10ENSG0000017780734
KCNJ15 / Q99712 / potassium voltage-gated channel subfamily J member 15ENSG0000015755133


Protein motifs (from Interpro)
Interpro ID Name
 IPR003272  Potassium channel, inwardly rectifying, Kir2.2
 IPR013518  Potassium channel, inwardly rectifying, Kir, cytoplasmic
 IPR013673  Potassium channel, inwardly rectifying, Kir, N-terminal
 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 IEA
 biological_processGO:0010107 potassium ion import IBA
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005242 inward rectifier potassium channel activity IMP
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000016 Urinary retention 
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 HP:0000597 Ophthalmoparesis "Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement." [HPO:curators]
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 HP:0000975 Hyperhidrosis "An abnormally increased perspiration." [HPO:probinson]
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 HP:0001265 Hyporeflexia 
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 HP:0001337 Tremor "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators]
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 HP:0001513 Obesity "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765]
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 HP:0001657 Prolonged QT interval on EKG 
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 HP:0001663 Ventricular fibrillation 
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 HP:0001824 Weight loss 
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 HP:0001962 Palpitations 
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 HP:0002019 Constipation 
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 HP:0002153 Hyperkalemia 
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 HP:0002203 Respiratory paralysis 
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 HP:0002445 Tetraplegia 
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 HP:0002917 Hypomagnesemia 
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 HP:0003201 Rhabdomyolysis 
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 HP:0003394 Muscle cramps 
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 HP:0003457 Abnormal EMG findings "Abnormal results of investigations using electromyography (EMG)." [HPO:curators]
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 HP:0003552 Muscle stiffness 
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 HP:0003694 Proximal muscle weakness occurs later "Lack of strength of the proximal musculature occuring late in the clinical course." [HPO:curators]
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 HP:0003752 Flaccid weakness or paralysis, episodic attacks 
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 HP:0005165 Shortened P-R interval on EKG 
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 HP:0007340 Lower limb muscle weakness "Weakness of the muscles of the legs." [HPO:curators]
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 HP:0008153 Periodic hypokalemic paresis 
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 HP:0008180 Mildly elevated creatine phosphokinase 
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 HP:0008285 Transient hypophosphatemia 
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 HP:0009020 Exercise-induced muscle fatigue "An abnormally increased tendency towards muscle fatigue induced by physical exercise." [HPO:curators]
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 HP:0011706 Second degree atrioventricular block "An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction." [DDD:dbrown, HPO:probinson]
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 HP:0011785 Thyrotoxicosis with toxic multinodular goitre 
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 HP:0011786 Thyrotoxicosis with toxic single thyroid nodule 
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 HP:0011998 Postprandial hyperglycemia "An `increased concentration` (PATO:0001162) of `glucose` (CHEBI:17234) in the `blood` (FMA:9670) following a meal." [HPO:probinson]
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 HP:0012240 Increased intramyocellular lipid droplets "An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See pmid 20691590 for histological images." [HPO:probinson, pmid:20691590]
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 HP:0012364 Decreased urinary potassium "A decreased concentration of `potassium(1+)` (CHEBI:29103) in the `urine` (FMA:12274)." [HPO:probinson]
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 HP:0012726 Episodic hypokalemia "An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes." [HPO:probinson]
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 HP:0100647 Graves disease "An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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