KCNJ4 - potassium inwardly rectifying channel subfamily J member 4 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3761

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
Molecular Function GO Annotation Evidence References 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 References 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
Others KCNJ4 NCBI