KCNJ8 - potassium inwardly rectifying channel subfamily J member 8 Gene

Also Known as KIR6.1; uKATP-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3764

About KCNJ8

Cytogenetic location: 12p12.1 Genomic coordinates (GRCh38): 12:21,764,955-21,774,706 (from NCBI)

This gene has 5 transcripts (splice variants), 202 orthologues, 15 paralogues and is associated with 3 phenotypes. Broad expression in fat (RPKM 16.1), heart (RPKM 14.3) and 20 other tissues.

Summary

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type Potassium Channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. Defects in this gene may be a cause of J-wave syndromes and sudden infant death syndrome (SIDS). [provided by RefSeq, May 2012]

KCNJ8 Products (1)

mRNA	Protein	Name
NM_004982.4	NP_004973.1	ATP-sensitive inward rectifier potassium channel 8

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables ATP-activated inward rectifier potassium channel activity	IDA IDA: Inferred from direct assay	20558321	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IDA IDA: Inferred from direct assay	18945825	GOA
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP IMP: Inferred from mutant phenotype	18945825	GOA
enables voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IMP IMP: Inferred from mutant phenotype	20558321	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in membrane repolarization during ventricular cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	20558321	GOA
involved in potassium ion import across plasma membrane	IDA IDA: Inferred from direct assay	20558321	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KCNJ8 Protein Structure

IRK

0
100
200
300
400
424 a.a.

Protein Preferred Names	Protein Names
ATP-sensitive inward rectifier potassium channel 8	inward rectifier K(+) channel Kir6.1

KCNJ8 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	KCNJ8	Q15842	TMEM140	Homo sapiens	Q9NV12	Validated Y2H	32296183
Intra	KCNJ8	Q15842	TMEM54	Homo sapiens	Q969K7	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Cantu Syndrome	Hypertrichotic Osteochondrodysplasia Hypertrichotic Osteochondrodysplasia Cantu Type Cantú Syndrome Craniofaciocardioskeletal Syndrome Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome Congenital Hypertrichosis-Acromegaloid Facial Features Spectrum Congenital Hypertrichosis-Coarse Facial Features Spectrum HTOCD Osteochondrodysplasia, Hypertrichotic
Sudden Infant Death Syndrome	SIDS Sudden Infant Death Syndrome, Susceptibility To Cot Death Crib Death Sudden Death Of Nonspecific Cause In Infancy Sudden Infant Death Death, Sudden, Syndrome, Infant
Brugada Syndrome	Sudden Unexpected Nocturnal Death Syndrome Sudden Unexplained Nocturnal Death Syndrome Bangungut Brugada Type Idiopathic Ventricular Fibrillation Pokkuri Death Syndrome Sunds Idiopathic Ventricular Fibrillation, Brugada Type Sudden Unexplained Death Dream Disease Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome Sudden Unexplained Death Syndrome Suds Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
Hypertrichosis
Cardiomyopathy, Dilated, 1o	Dilated Cardiomyopathy 1o CMD1O Dilated Cardiomyopathy With Ventricular Tachycardia Cardiomyopathy, Dilated, With Ventricular Tachycardia Cardiomyopathy, Dilated 1o Cardiomyopathy, Dilated, Type 1o
Coronary Artery Vasospasm	Coronary Vasospasm Coronary Artery Spasm
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Vitreoretinal Degeneration, Snowflake Type	Snowflake Vitreoretinal Degeneration SVD Snowflake Degeneration In Hereditary Vitreoretinal Degeneration
Short Qt Syndrome	Sqts Familial Short Qt Syndrome
Neonatal Diabetes	Neonatal Diabetes Mellitus Diabetes Mellitus Syndrome In Newborn Infant Ndm
Patent Ductus Arteriosus 1	Patent Ductus Arteriosus PDA1 Pda Ductus Arteriosus, Patent Patent Ductus Arteriosus, Susceptibility To Patent Ductus Botalli Patency Of The Ductus Arteriosus Patent Ductus Arteriosus Familial Ductus Arteriosus Patent Patent Ductus Arteriosus - Persisting Type
Hypokalemic Periodic Paralysis, Type 1	Hypokalemic Periodic Paralysis Hokpp Hypopp Westphall Disease HOKPP1 Familial Hypokalemic Periodic Paralysis Familial Periodic Paralysis Westphal Disease Hypokalemic Periodic Paralysis Type 1 Hypokalemic Familial Periodic Paralysis Periodic Hypokalemic Paralysis Periodic Paralysis I Hypokpp Primary Hypokalemic Periodic Paralysis Periodic Paralysis Hypokalemic 1 Paralysis, Hypokalemic, Periodic Paralysis, Hypokalemic, Periodic, Type 1
Familial Atrial Fibrillation	Atrial Fibrillation, Familial Atfb Atrial Fibrillation Autosomal Dominant Autosomal Dominant Atrial Fibrillation Auricular Fibrillation Atrial Fibrillation Atrial Fibrillation, Familial, 1
Hyperinsulinemic Hypoglycemia	Nesidioblastosis Islet Cell Hyperplasia Persistent Hyperinsulinemia Hypoglycemia Of Infancy Hyperinsulinemic Hypoglycaemia
Long Qt Syndrome 2	LQT2 Long Qt Syndrome, Acquired, Reduced Susceptibility To Long Qt Syndrome 1/2 Long Qt Syndrome 2/3 Long Qt Syndrome 2/5 Long Qt Syndrome 2, Acquired, Susceptibility To Long Qt Syndrome, Acquired, Reduced Long Qt Syndrome Type 2 Long Qt Syndrome 2/9 Lqt1/2 Lqt2/3 Lqt2/5 Lqt2/9 Susceptibility To Acquired Long Qt Syndrome 2 Long Qt Syndrome-2 Qt Syndrome, Long, Type 2 Long Qt Syndrome 1-2 Long Qt Syndrome 2-3 Long Qt Syndrome 2-5 Long Qt Syndrome 9
Catecholaminergic Polymorphic Ventricular Tachycardia	Cpvt Catecholamine-Induced Polymorphic Ventricular Tachycardia Familial Polymorphic Ventricular Tachycardia Malignant Paroxysmal Ventricular Tachycardia Multifocal Ventricular Premature Beats Stress-Induced Polymorphic Ventricular Tachycardia Bidirectional Tachycardia Induced By Catecholamine Double Tachycardia Induced By Catecholamines Polymorphic Catecholergic Ventricular Tachycardia Syncopal Paroxysmal Tachycardia Bidirectional Tachycardia Induced By Catecholamines Fpvt Bidirectional Ventricular Tachycardia Induced By Catecholamine Polymorphic Ventricular Tachycardia Induced By Catecholamines Ventricular Tachycardia, Catecholaminergic Polymorphic Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 Familial Ventricular Tachycardia Multifocal Pvcs Multifocal Premature Ventricular Beats
Long Qt Syndrome 1	Romano-Ward Syndrome LQT1 Ward-Romano Syndrome Rws Ventricular Fibrillation With Prolonged Qt Interval Wrs Long Qt Syndrome 1, Acquired, Susceptibility To Long Qt Syndrome 1, Acquired Romano-Ward Long Qt Syndrome Long Qt Syndrome Type 1 Long Qt Syndrome-1 Acquired Susceptibility To Long Qt Syndrome 1 Qt Syndrome, Long, Type 1
Heart Conduction Disease	Conduction Disorder Of The Heart Heart Rhythm Disease
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric Septal Hypertrophy Familial Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy 1 CMH1 Hypertrophic Cardiomyopathy 19 CMH Ventricular Hypertrophy, Hereditary Ash Hypertrophic Subaortic Stenosis, Idiopathic Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Hypertrophic, 1, Digenic Cardiomyopathy, Familial Hypertrophic 1 Hcm Hereditary Ventricular Hypertrophy Idiopathic Hypertrophic Subaortic Stenosis Hypertrophic Cardiomyopathy Cardiomyopathy, Hypertrophic, Familial Cardiomyopathy, Hypertrophic, 1 Familial Asymmetric Septal Hypertrophy Heritable Hypertrophic Cardiomyopathy Fhc Cardiomyopathy, Hypertrophic, Familial, Type 1
Lipoprotein Quantitative Trait Locus	Coronary Artery Disease Coronary Artery Anomaly Coronary Artery Disease, Susceptibility To Myocardial Ischemia Congenital Anomaly Of Coronary Artery Coronary Arteriosclerosis Coronary Disease Coronary Heart Disease Coronary Artery Disorder LPAQTL Lpa Deficiency, Congenital Coronary Artery Abnormality Coronary Artery Anomaly, Congenital Chd Coronary Syndrome Congenital Malformations Of Coronary Vessels Malformation Of Coronary Vessels Congenital Coronary Artery Anomaly Congenital Coronary Artery Deformity Congenital Coronary Artery Disorder Abnormal Coronary Artery Congenital Coronary Artery Malposition Congenital Coronary Disease Congenital Anomaly Of Coronary Arteries
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07150	KCNJ8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22588	Kcnj8 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	KCNJ8	VGNC	VGNC:42268
Macaca mulatta	KCNJ8	VGNC	VGNC:73992
Mus musculus	KCNJ8	MGD	MGI:1100508
Felis catus	KCNJ8	VGNC	VGNC:67917
Bos taurus	KCNJ8	VGNC	VGNC:30463
Rattus norvegicus	KCNJ8	RGD	RGD:2960