KCNJ3 - potassium inwardly rectifying channel subfamily J member 3 Gene

Also Known as KGA; GIRK1; KIR3.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3760

About KCNJ3

Cytogenetic location: 2q24.1 Genomic coordinates (GRCh38): 2:154,698,695-154,858,354 (from NCBI)

This gene has 4 transcripts (splice variants), 222 orthologues and 15 paralogues. Biased expression in brain (RPKM 10.3), heart (RPKM 5.7) and 8 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 and plays an important role in regulating heartbeat. It associates with three Other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex that also couples to neurotransmitter receptors in the brain and whereby channel activation can inhibit action potential firing by hyperpolarizing the plasma membrane. These multimeric G-protein-gated inwardly-rectifying potassium (GIRK) channels may play a role in the pathophysiology of epilepsy, addiction, Down's syndrome, ataxia, and Parkinson's disease. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, May 2012]

KCNJ3 Products (4)

mRNA	Protein	Name
NM_001260508.2	NP_001247437.1	G protein-activated inward rectifier potassium channel 1 isoform 2
NM_001260509.2	NP_001247438.1	G protein-activated inward rectifier potassium channel 1 isoform 3
NM_001260510.2	NP_001247439.1	G protein-activated inward rectifier potassium channel 1 isoform 4
NM_002239.4	NP_002230.1	G protein-activated inward rectifier potassium channel 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to inward rectifier potassium channel activity	IDA IDA: Inferred from direct assay	12297500	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12297500	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in potassium ion import across plasma membrane	IDA IDA: Inferred from direct assay	20560207	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of voltage-gated potassium channel complex	IDA IDA: Inferred from direct assay	20560207	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

KCNJ3 Protein Structure

IRK

0
100
200
300
400
501 a.a.

Protein Preferred Names	Protein Names
G protein-activated inward rectifier potassium channel 1	GIRK-1

Related Diseases

Diseases	Alias
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
Myasthenic Syndrome, Congenital, 8	Congenital Myasthenic Syndrome 8 CMS8 Myasthenic Syndrome, Congenital, With Pre- And Postsynaptic Defects Cmsppd Myasthenic Syndrome, Congenital, 8, With Pre- And Postsynaptic Defects Congenital Myasthenic Syndrome Due To Agrin Deficiency Myasthenic Syndrome, Congenital, Due To Agrin Deficiency Congenital Myasthenic Syndrome 8 With Pre- And Postsynaptic Defects Myasthenic Syndrome, Congenital, Type 8, With Pre- And Postsynaptic Defects
Night Blindness, Congenital Stationary, Type 1h	Congenital Stationary Night Blindness 1h CSNB1H Congenital Stationary Night Blindness Type 1h Night Blindness, Congenital Stationary, 1h
Vitreoretinal Degeneration, Snowflake Type	Snowflake Vitreoretinal Degeneration SVD Snowflake Degeneration In Hereditary Vitreoretinal Degeneration
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance	Sesame Syndrome East Syndrome SESAMES Epilepsy, Ataxia, Sensorineural Deafness And Tubulopathy Seizures, Sensorineural Deafness, Ataxia, Mental Retardation And Electrolyte Imbalance Epilepsy-Ataxia-Sensorineural Deafness-Tubulopathy Syndrome Seizures-Sensorineural Deafness-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy Seizures - Sensorineural Deafness - Ataxia - Intellectual Disability - Electrolyte Imbalance Epilepsy-Ataxia-Sensorineural Hearing Loss-Tubulopathy Syndrome Seizures-Sensorineural Hearing Loss-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance Epilepsy Ataxia Sensorineural Deafness And Tubulopathy Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance Syndrome
Andersen Cardiodysrhythmic Periodic Paralysis	Andersen Syndrome Andersen-Tawil Syndrome LQT7 Long Qt Syndrome 7 Ats Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type Long Qt Syndrome Type 7 Andersen Tawil Syndrome Potassium-Sensitive Cardiodysrhythmic Type Lqts Type 7 Long Qt Syndrome-7
Familial Atrial Fibrillation	Atrial Fibrillation, Familial Atfb Atrial Fibrillation Autosomal Dominant Autosomal Dominant Atrial Fibrillation Auricular Fibrillation Atrial Fibrillation Atrial Fibrillation, Familial, 1
Heart Conduction Disease	Conduction Disorder Of The Heart Heart Rhythm Disease
Epilepsy, Idiopathic Generalized	Idiopathic Generalized Epilepsy Generalised Epilepsy Epilepsy, Generalized EIG Ige Epilepsy, Idiopathic Generalized, Susceptibility To, 1 Epilepsy, Idiopathic Generalized 1 Epilepsy, Idiopathic Generalized, Susceptibility To Epilepsy, Idiopathic, Generalized Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
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
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]

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07146	KCNJ3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22587	Kcnj3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29104	Kcnj3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	KCNJ3	RGD	RGD:2958
Bos taurus	KCNJ3	VGNC	VGNC:30461
Macaca mulatta	KCNJ3	VGNC	VGNC:73989
Mus musculus	KCNJ3	MGD	MGI:104742
Felis catus	KCNJ3	VGNC	VGNC:67915
Canis familiaris	KCNJ3	VGNC	VGNC:42264
Others	KCNJ3	NCBI