KCNJ3 - potassium inwardly rectifying channel subfamily J member 3 Gene

Homo sapiens

Also known as KGA; GIRK1; KIR3.1

Gene ID: 3760 | Gene type: protein coding

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07146	KCNJ3 Human Pre-designed siRNA Set A		/	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

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