1. Gene
  2. KCNJ4 - potassium inwardly rectifying channel subfamily J member 4 Gene

KCNJ4 - potassium inwardly rectifying channel subfamily J member 4 Gene

Homo sapiens

Also known as HIR; HRK1; IRK3; HIRK2; IRK-3; Kir2.3

Gene ID: 3761 | Gene type: protein coding

About KCNJ4

Cytogenetic location: 22q13.1 Genomic coordinates (GRCh38): 22:38,426,327-38,455,199 (from NCBI)

This gene has 1 transcript (splice variant), 253 orthologues and 15 paralogues. Biased expression in brain (RPKM 14.9) and heart (RPKM 6.3).

Summary

Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, and they have a greater tendency to allow potassium to flow into the cell rather than out of it. This asymmetry in potassium ion conductance plays a key role in the excitability of muscle cells and neurons. The protein encoded by this gene is an integral membrane protein and member of the inward rectifier Potassium Channel family. The encoded protein has a small unitary conductance compared to other members of this protein family. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

KCNJ4 Products(2)

mRNA Protein Name
NM_004981.2 NP_004972.1 inward rectifier potassium channel 4
NM_152868.3 NP_690607.1 inward rectifier potassium channel 4
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables PDZ domain binding IPI
IPI: Inferred from physical interaction
16855024 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16855024 GOA
Cellular Component GO Annotation Evidence Reference Source
located in basolateral plasma membrane IDA
IDA: Inferred from direct assay
16855024 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

KCNJ4 Protein Structure

IRK

IRK: Inward rectifier potassium channel (22 - 364)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 445 a.a.
Protein Preferred Names Protein Names

inward rectifier potassium channel 4

hippocampal inward rectifier potassium channel

Related Diseases

Diseases Alias
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

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

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

Vitreoretinal Degeneration, Snowflake Type

Snowflake Vitreoretinal Degeneration

SVD

Snowflake Degeneration In Hereditary Vitreoretinal Degeneration

Long Qt Syndrome 9

LQT9

Long Qt Syndrome-9

Qt Syndrome, Long, Type 9

Familial Atrial Fibrillation

Atrial Fibrillation, Familial

Atfb

Atrial Fibrillation Autosomal Dominant

Autosomal Dominant Atrial Fibrillation

Auricular Fibrillation

Atrial Fibrillation

Atrial Fibrillation, Familial, 1

Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus KCNJ4 RGD RGD:621436
Bos taurus KCNJ4 VGNC VGNC:106790
Felis catus KCNJ4 VGNC VGNC:82442
Mus musculus KCNJ4 MGD MGI:104743
Canis familiaris KCNJ4 VGNC VGNC:42265