KCNJ2 - potassium inwardly rectifying channel subfamily J member 2 Gene

Also Known as IRK1; LQT7; SQT3; ATFB9; HHIRK1; KIR2.1; HHBIRK1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3759

About KCNJ2

Cytogenetic location: 17q24.3 Genomic coordinates (GRCh38): 17:70,169,532-70,180,044 (from NCBI)

This gene has 2 transcripts (splice variants), 274 orthologues, 15 paralogues and is associated with 8 phenotypes. Broad expression in spleen (RPKM 3.4), heart (RPKM 3.3) and 23 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, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008]

KCNJ2 Products (1)

mRNA Protein Name
NM_000891.3 NP_000882.1 inward rectifier potassium channel 2
Molecular Function GO Annotation Evidence Verweise Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables inward rectifier potassium channel activity IDA
IDA: Inferred from direct assay
11371347 GOA
enables phosphatidylinositol-4,5-bisphosphate binding IDA
IDA: Inferred from direct assay
12086641 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
30126976 GOA
enables voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization IMP
IMP: Inferred from mutant phenotype
11371347 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in cardiac muscle cell action potential involved in contraction IMP
IMP: Inferred from mutant phenotype
11371347 GOA
involved in membrane repolarization during action potential IMP
IMP: Inferred from mutant phenotype
11371347 GOA
involved in membrane repolarization during cardiac muscle cell action potential IMP
IMP: Inferred from mutant phenotype
11371347 GOA
involved in potassium ion import across plasma membrane IDA
IDA: Inferred from direct assay
11371347 GOA
involved in potassium ion transmembrane transport IDA
IDA: Inferred from direct assay
12086641 GOA
involved in potassium ion transport IDA
IDA: Inferred from direct assay
20921230 GOA
involved in protein homotetramerization IDA
IDA: Inferred from direct assay
20921230 GOA
involved in regulation of heart rate by cardiac conduction IMP
IMP: Inferred from mutant phenotype
15761194 GOA
involved in regulation of membrane repolarization IDA
IDA: Inferred from direct assay
11371347 GOA
involved in regulation of skeletal muscle contraction via regulation of action potential IMP
IMP: Inferred from mutant phenotype
11371347 GOA
involved in relaxation of cardiac muscle IMP
IMP: Inferred from mutant phenotype
11371347 GOA
involved in relaxation of skeletal muscle IMP
IMP: Inferred from mutant phenotype
11371347 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in membrane IDA
IDA: Inferred from direct assay
20921230 GOA
part of voltage-gated potassium channel complex IDA
IDA: Inferred from direct assay
12086641 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

KCNJ2 Protein Structure

IRK_N

IRK_N: Inward rectifier potassium channel N-terminal (1 - 47)

IRK

IRK: Inward rectifier potassium channel (48 - 378)

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

inward rectifier potassium channel 2

  • IRK-1

KCNJ2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
KCNJ2 P63252 SDC3 Homo sapiens A0A0S2Z4U3 32296183
Intra
KCNJ2 P63252 SDC3 Homo sapiens A0A0S2Z4U3 32296183
Intra
KCNJ2 P63252 ARL13B Homo sapiens Q3SXY8 32541000
Intra
KCNJ2 P63252 ARL13B Homo sapiens Q3SXY8 32296183
Intra
KCNJ2 P63252 ARL13B Homo sapiens Q3SXY8 32296183
Intra
KCNJ2 P63252 ARL13B Homo sapiens Q3SXY8 32296183
Intra
KCNJ2 P63252 KCNJ18 Homo sapiens B7U540 32541000
Intra
KCNJ2 P63252 KCNJ18 Homo sapiens B7U540 32296183
Intra
KCNJ2 P63252 KCNJ18 Homo sapiens B7U540 32296183
Intra
KCNJ2 P63252 SCRIB Homo sapiens Q14160 32541000
Intra
KCNJ2 P63252 SEC22A Homo sapiens Q96IW7 32296183
Intra
KCNJ2 P63252 KCNJ2 Homo sapiens P63252 32296183
Intra
KCNJ2 P63252 KCNJ15 Homo sapiens Q99712 32296183
Intra
KCNJ2 P63252 KCNJ2 Homo sapiens P63252 32296183
Intra
KCNJ2 P63252 KCNJ15 Homo sapiens Q99712 32296183
Intra
KCNJ2 P63252 KCNJ15 Homo sapiens Q99712 32296183
Intra
KCNJ2 P63252 KCNJ2 Homo sapiens P63252 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

KCNJ2 Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P83126 Kir2.1 Antibody (YA2871) WB, IHC-P, ICC/IF Human, Mouse, Rat

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

Short Qt Syndrome 3
  • SQT3

  • Short Qt Syndrome Type 3

  • Short Qt Syndrome-3

Atrial Fibrillation, Familial, 9
  • ATFB9

  • Fibrillation, Atrial, Familial, Type 9

Glycogen Storage Disease Iv
  • Gsd Iv

  • Glycogen Branching Enzyme Deficiency

  • Andersen Disease

  • Amylopectinosis

  • Glycogen Storage Disease Type Iv

  • GSD4

  • Brancher Deficiency

  • Glycogen Storage Disease, Type Iv

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

  • Gbe1 Deficiency

  • Glycogenosis Iv

  • Cirrhosis, Familial, With Deposition Of Abnormal Glycogen

  • Glycogen Storage Disease Type 4

  • Glycogenosis 4

  • Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, And Dysmorphic Features

  • Andersen'S Disease

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

  • Brancher Deficiency Glycogenosis

  • Branching-Transferase Deficiency Glycogenosis

  • Deficiency Of 1,4-Alpha-Glucan Branching Enzyme

  • Andersen-Tawil Syndrome

  • Gsd 4

  • Andersen Cardiodysrhythmic Periodic Paralysis

  • Lqt7

  • Long Qt Syndrome 7

  • Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type

  • Andersen Glycogenosis

  • Branching Enzyme Deficiency

  • Glycogenosis, Type Iv

  • Gsd Type Iv

  • Type Iv Glycogenosis

  • Gbe Deficiency, Childhood Neuromuscular Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

  • Gsd Type 4, Childhood Neuromuscular Form

  • Gsdiv, Childhood Neuromuscular Form

  • Glycogen Storage Disease Type 4, Childhood Neuromuscular Form

  • Glycogen Storage Disease Type Iv, Childhood Neuromuscular Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

  • Glycogenosis Type 4, Childhood Neuromuscular Form

  • Glycogenosis Type Iv, Childhood Neuromuscular Form

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

  • Gbe Deficiency, Adult Neuromuscular Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

  • Gsd Type 4, Adult Neuromuscular Form

  • Gsdiv, Adult Neuromuscular Form

  • Glycogen Storage Disease Type 4, Adult Neuromuscular Form

  • Glycogen Storage Disease Type Iv, Adult Neuromuscular Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

  • Glycogenosis Type 4, Adult Neuromuscular Form

  • Glycogenosis Type Iv, Adult Neuromuscular Form

  • Gbe Deficiency, Congenital Neuromuscular Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

  • Gsd Type 4, Congenital Neuromuscular Form

  • Gsdiv, Congenital Neuromuscular Form

  • Glycogen Storage Disease Type 4, Congenital Neuromuscular Form

  • Glycogen Storage Disease Type Iv, Congenital Neuromuscular Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

  • Glycogenosis Type 4, Congenital Neuromuscular Form

  • Glycogenosis Type Iv, Congenital Neuromuscular Form

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

  • Gbe Deficiency, Childhood Combined Hepatic And Myopathic Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

  • Gsd Type 4, Childhood Combined Hepatic And Myopathic Form

  • Gsdiv, Childhood Combined Hepatic And Myopathic Form

  • Glycogen Storage Disease Type 4, Childhood Combined Hepatic And Myopathic Form

  • Glycogen Storage Disease Type Iv, Childhood Combined Hepatic And Myopathic Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

  • Glycogenosis Type 4, Childhood Combined Hepatic And Myopathic Form

  • Glycogenosis Type Iv, Childhood Combined Hepatic And Myopathic Form

  • Gbe Deficiency, Fatal Perinatal Neuromuscular Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

  • Gsd Type 4, Fatal Perinatal Neuromuscular Form

  • Gsdiv, Fatal Perinatal Neuromuscular Form

  • Glycogen Storage Disease Type 4, Fatal Perinatal Neuromuscular Form

  • Glycogen Storage Disease Type Iv, Fatal Perinatal Neuromuscular Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

  • Glycogenosis Type 4, Fatal Perinatal Neuromuscular Form

  • Glycogenosis Type Iv, Fatal Perinatal Neuromuscular Form

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

  • Gbe Deficiency, Non Progressive Hepatic Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

  • Gsd Type 4, Non Progressive Hepatic Form

  • Gsdiv, Non Progressive Hepatic Form

  • Glycogen Storage Disease Type 4, Non Progressive Hepatic Form

  • Glycogen Storage Disease Type Iv, Non Progressive Hepatic Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

  • Glycogenosis Type 4, Non Progressive Hepatic Form

  • Glycogenosis Type Iv, Non Progressive Hepatic Form

  • Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

  • Gbe Deficiency, Progressive Hepatic Form

  • Gsd Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

  • Gsd Type 4, Progressive Hepatic Form

  • Gsdiv, Progressive Hepatic Form

  • Glycogen Storage Disease Type 4, Progressive Hepatic Form

  • Glycogen Storage Disease Type Iv, Progressive Hepatic Form

  • Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

  • Glycogenosis Type 4, Progressive Hepatic Form

  • Glycogenosis Type Iv, Progressive Hepatic Form

  • Glycogen Storage Disease 4

  • Gsd-Iv

  • Storage Disease, Glycogen, Type Iv

Familial Short Qt Syndrome
  • Sqts

  • Genetic Short Qt Syndrome

Familial Atrial Fibrillation
  • Atrial Fibrillation, Familial

  • Atfb

  • Atrial Fibrillation Autosomal Dominant

  • Autosomal Dominant Atrial Fibrillation

  • Auricular Fibrillation

  • Atrial Fibrillation

  • Atrial Fibrillation, Familial, 1

Periodic Paralysis
  • Westphal Disease

  • Periodic Myotonia

  • Myoplegic Dystrophy

  • Familial Recurrent Paralysis

  • Familial Myoplegia

  • Cavare Disease

  • Cavarre Disease

  • Familial Paralysis

  • Familial Periodic Paralysis

  • Myotonic Periodic Paralysis

Short Qt Syndrome
  • Sqts

  • Familial Short Qt Syndrome

Atrial Fibrillation
  • A-Fib

  • Fibrillation, Atrial

  • Af - [Atrial Fibrillation]

  • Rapid Atrial Fibrillation

  • A Fib - [Atrial Fibrillation]

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
  • Romano-Ward Syndrome

  • Long Q-T Syndrome

  • Lqt

  • Qt Syndrome, Long

  • Congenital Long Qt Syndrome

  • Familial Long Qt Syndrome

Cardiac Arrhythmia, Ankyrin-B-Related
  • Long Qt Syndrome 4

  • Ankyrin-B Syndrome

  • LQT4

  • Ankyrin-B-Related Cardiac Arrhythmia

  • Sick Sinus Syndrome With Bradycardia

  • Arrhythmia, Cardiac, Ankyrin B-Related

Campomelic Dysplasia
  • Acampomelic Campomelic Dysplasia

  • Camptomelic Dysplasia

  • Campomelic Dysplasia With Autosomal Sex Reversal

  • Cmpd

  • CMD1

  • Cmpd1

  • Cmpd1/Sra1

  • Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal

  • Campomelic Dwarfism

  • Campomelic Syndrome

  • Dysplasia, Campomelic

  • Chronic Myeloproliferative Disorder

  • Familial Dilated Cardiomyopathy

Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
  • Catecholaminergic Polymorphic Ventricular Tachycardia 3

  • CPVT3

  • Cvpt3

  • Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 3

Myasthenic Syndrome, Congenital, 20, Presynaptic
  • Congenital Myasthenic Syndrome 20

  • CMS20

  • Congenital Myasthenic Syndrome 20 Presynaptic

  • Myasthenic Syndrome, Congenital, Type 20, Presynaptic

Timothy Syndrome
  • Long Qt Syndrome With Syndactyly

  • TS

  • Lqt8

  • Long Qt Syndrome 8

  • Long Qt Syndrome Type 8

  • Long Qt Syndrome-Syndactyly Syndrome

Familial Periodic Paralysis
  • Genetic Periodic Paralysis

  • Paralyses, Familial Periodic

Hyperkalemic Periodic Paralysis
  • HYPP

  • Gamstorp Disease

  • Gamstorp Episodic Adynamy

  • Adynamia Episodica Hereditaria With Or Without Myotonia

  • Familial Hyperkalemic Periodic Paralysis

  • Hyperkpp

  • Hyperpp

  • Adynamia Episodica Hereditaria

  • Primary Hyperkalemic Periodic Paralysis

  • Hyperkalemic Periodic Paralysis, Type 2

  • Sodium Channel Muscle Disease

  • Familial Hyperpp

  • Hyperkalemic Pp

  • Primary Hyperpp

  • Periodic Paralysis Hyperkalemic

  • Periodic Paralysis Normokalemic

  • NKPP

  • Periodic Paralysis Eukalemic

  • Paralysis, Hyperkalemic Periodic

  • Paralysis, Periodic, Hyperkalemic

  • Potassium Aggravated Myotonia

Long Qt Syndrome 6
  • LQT6

  • Long Qt Syndrome 3/6

  • Lqt3/6

  • Susceptibility To Acquired Long Qt Syndrome 6

  • Long Qt Syndrome-6

  • Long Qt Syndrome 6, Acquired, Susceptibility To

  • Qt Syndrome, Long, Type 6

  • Long Qt Syndrome 3-6

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

Paramyotonia Congenita Of Von Eulenburg
  • Paramyotonia Congenita

  • PMC

  • Paralysis Periodica Paramyotonica

  • Eulenburg Disease

  • Myotonia Congenita Intermittens

  • Von Eulenburg Paramyotonia Congenita

  • Paralysis Periodica Paramyotonia

  • Von Eulenberg'S Disease

  • Paramyotonia Congenita Without Cold Paralysis

  • Eulenburg Syndrome

  • Paramyotonia

Long Qt Syndrome 13
  • LQT13

  • Qt Syndrome, Long, Type 13

Long Qt Syndrome 5
  • LQT5

  • Long Qt Syndrome 2/5

  • Lqt2/5

  • Susceptibility To Acquired Long Qt Syndrome 5

  • Long Qt Syndrome-5

  • Long Qt Syndrome 5, Acquired, Susceptibility To

  • Qt Syndrome, Long, Type 5

  • Long Qt Syndrome 2-5

Long Qt Syndrome 3
  • LQT3

  • Long Qt Syndrome Type 3

  • Long Qt Syndrome-3

  • Qt Syndrome, Long, Type 3

Long Qt Syndrome 14
  • LQT14

  • Long Qt Syndrome, Type 14

Heart Disease
  • Heart Failure

  • Congenital Heart Disease

  • Heart Diseases

  • Congenital Heart Defects

  • Congenital Heart Defect

  • Heart Malformation

  • Congenital Anomaly Of Heart

  • Heart Defect

  • Heart-Congenital Defect

  • Congenital Heart Disorder

  • Heart Defects Congenital

  • Heart Defects, Congenital

  • Heart Defects

  • Heart Disease, Congenital

  • Disease, Heart, Congenital

  • Congestive Heart Failure

Long Qt Syndrome 15
  • LQT15

  • Long Qt Syndrome, Type 15

Long Qt Syndrome 10
  • LQT10

  • Atrial Fibrillation, Familial, 17

  • ATFB17

  • Long Qt Syndrome-10

  • Qt Syndrome, Long, Type 10

Long Qt Syndrome 9
  • LQT9

  • Long Qt Syndrome-9

  • Qt Syndrome, Long, Type 9

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

Long Qt Syndrome 11
  • LQT11

  • Long Qt Syndrome-11

  • Qt Syndrome, Long, Type 11

Congestive Heart Failure
  • Congestive Heart Disease

  • Heart Failure

  • Cardiac Failure Congestive

  • Chf

  • Weak Heart

  • Heart Failure Congestive

  • Ccf - [Congestive Cardiac Failure]

  • Chf - [Congestive Heart Failure]

  • Congestive Cardiac Diseases

  • Congested Heart Failure

  • Congestive Cardiac Failure

  • Cardiac Anasarca

  • Cardiac Oedema

  • Cardiac Stasis

  • Cardiovascular Oedema

  • Cardiac Hydrops

  • Congestive Failure

  • Heart Congestion

  • Heart Fluid

  • Oedematous Heart

Long Qt Syndrome 12
  • LQT12

  • Qt Syndrome, Long, Type 12

Myotonia Congenita
  • Congenital Myotonia, Autosomal Dominant Form

  • Congenital Myotonia

  • Thomsen And Becker Disease

  • Thomsen Disease

  • Thomsen'S Disease

  • Generalized Myotonia Of Thomsen

  • Congenital Myotonic Muscular Dystrophy

  • Myotonia Congenita Nos

Jervell And Lange-Nielsen Syndrome 1
  • Jervell And Lange-Nielsen Syndrome

  • Jervell-Lange Nielsen Syndrome

  • Prolonged Qt Interval In Ekg And Sudden Death

  • Cardioauditory Syndrome Of Jervell And Lange-Nielsen

  • Surdo-Cardiac Syndrome

  • JLNS1

  • Deafness, Congenital, And Functional Heart Disease

  • Jlns

  • Long Qt Interval-Deafness Syndrome

  • Jervell And Lange-Nielson Syndrome

  • Jervell Lange-Nielsen Syndrome

  • Autosomal Recessive Long Qt Syndrome

  • Cardio-Auditory-Syncope Syndrome

  • Long Qt Interval-Hearing Loss Syndrome

  • Congenital Deafness And Functional Heart Disease

  • Long Qt Interval-Deafness

Brugada Syndrome 4
  • BRGDA4

  • Brugada Syndrome, Type 4

Intrinsic Cardiomyopathy
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

Sinoatrial Node Disease
  • Sa Node

  • Sinuatrial Node

  • Sinus Node Dysfunction

Third-Degree Atrioventricular Block
  • Third Degree Atrioventricular Block

  • Complete Atrioventricular Block

  • Complete Av Block

  • Third-Degree Block

  • Complete Atrioventricular Heart Block

  • Complete Heart Block

  • Third Degree Atrioventricular Heart Block

  • Third Degree Heart Block

  • Complete Heart Block Nos

  • Chb - [Complete Heart Block]

  • Idioventricular Rhythm

  • Av - [Atrioventricular] Block, Complete

Scoliosis
First-Degree Atrioventricular Block
  • First Degree Atrioventricular Block

  • First Degree Heart Block

  • Incomplete Atrioventricular Block, First Degree

  • First Degree Atrioventricular Heart Block

Atrioventricular Block
  • Av Block

Bartter Syndrome, Type 4a, Neonatal, With Sensorineural Deafness
  • Bsnd

  • Sensorineural Deafness With Mild Renal Dysfunction

  • Bartter Disease Type 4a

  • BARTS4A

  • Bartter Syndrome, Type 4a

  • Bartter Syndrome Type 4

  • Bartter Syndrome, Neonatal, With Sensorineural Deafness

  • Bartter Syndrome With Sensorineural Deafness

  • Bartter Syndrome Type 4a

  • Neonatal Bartter Syndrome With Sensorineural Deafness

  • Bartter Syndrome Type Iv

  • Bartter Syndrome With Sensorineural Hearing Loss

  • Bartter Syndrome 4a, Neonatal, With Sensorineural Deafness

  • Hyperprostanglandin E Syndrome 4

  • Hypokalemic Alkalosis With Hypercalciuria Antenatal 4

  • Infantile Bartter Syndrome With Sensorineural Deafness

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]

Aortic Valve Disease 1
  • Aortic Valve Disease

  • Bicuspid Aortic Valve

  • Aortic Valve Disorder

  • AOVD1

  • Bav

  • Bicuspid Aortic Valve Disease

  • Familial Bicuspid Aortic Valve

  • Aortic Valve Calcification

  • Aovd

  • Aortic Valve, Bicuspid

  • Aortic Valve, Calcification Of

  • Aortic Stenosis, Calcific

  • Familial Bav

  • Calcific Aortic Stenosis

  • Calcification Of Aortic Valve

  • Abnormality Of The Aortic Valve

  • Aortic Valve Disease, Type 1

  • Aortic Valve Disease 2

  • Bicommissural Aortic Valve

Chromosome 2q35 Duplication Syndrome
  • Syndactyly

  • Syndactyly Type 1

  • Sdty1

  • Zygodactyly

  • Syndactyly, Type I

  • Sd1

  • Syndactyly, Type 1, With Or Without Craniosynostosis

  • Symphalangism

  • Non-Syndromic Syndactyly

  • Symphalangy

  • Webbing Of Digits

  • Syndactyly, 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

Autism
  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic

Congenital Myasthenic Syndrome
  • Congenital Myasthenia

  • Congenital Myasthenic Syndromes

  • Cms

  • Myasthenic Syndromes, Congenital

  • Myasthenic Syndromes Congenital

  • Myasthenic Syndrome, Congenital

  • Congenital Myasthenic Syndrome Ib

  • Congenital And Developmental Myasthenia

  • Developmental Myasthenia

Orofacial Cleft
  • Cleft, Orofacial

Hypertrophic Cardiomyopathy
  • Hypertrophic Obstructive Cardiomyopathy

  • Cardiomyopathy, Hypertrophic

  • Cardiomyopathy Hypertrophic Obstructive

  • Cardiomyopathy, Hypertrophic, Familial

  • Idiopathic Myocardial Hypertrophy

  • Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Cardiomyopathy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Muscular Subaortic Stenosis

  • Hypertrophic Obstructive Subaortic Stenosis

Patent Foramen Ovale
  • Atrial Septal Defect Within Oval Fossa

  • Foramen Ovale Patent

  • Ostium Secundum Atrial Septal Defect

  • Atrial Septal Defect, Ostium Secundum Type

  • Foramen Ovale, Patent

  • Defect, Patent Or Persistent, Ostium Secundum

  • Ostium Secundum Type Atrial Septal Defect

  • Persistent Ostium Secundum

  • Asd Ostium Secundum Type

  • Ostium Secundum Asd

  • Osasd

  • Asd, Ostium Secundum Type

  • Pfo - [Patent Foramen Ovale]

  • Open Foramen Ovale

  • Open Oval Foramen

  • Persistent Foramen Ovale

  • Secundum Atrial Septal Defect

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

Aortic Aneurysm, Familial Thoracic 1
  • Thoracic Aortic Aneurysm

  • Annuloaortic Ectasia

  • Familial Thoracic Aortic Aneurysm And Aortic Dissection

  • Familial Aortic Dissection

  • Familial Taad

  • Familial Thoracic Aortic Aneurysm

  • Congenital Aneurysm Of Ascending Aorta

  • Familial Aortic Aneurysm

  • Familial Thoracic Aortic Aneurysm And Dissection

  • Aortic Aneurysm, Thoracic

  • AAT1

  • Faa1

  • Aortic Dissection, Familial

  • Aortic Aneurysm, Familial Thoracic

  • Aneurysm, Thoracic Aortic

  • Faa

  • Ftaad

  • Taa

  • Taad

  • Cystic Medial Necrosis Of Aorta

  • Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection

  • Aortic Aneurysm Thoracic

  • Familial Aortic Aneurysms

  • Aneurysm, Aortic, Thoracic, Familial, Type 1

  • Aneurysm Of Thoracic Aorta

  • Intrathoracic Aneurysm

  • Thoracic Aorta Aneurysm

  • Thoracic Aortic Aneurysm Without Rupture

  • Thoracic Aneurysm

  • Thorax Arterial Aneurysm

  • Thoracic Artery Aneurysm

  • Thoracic Arterial Aneurysm

  • Thorax Aneurysm

  • Thorax Aortic Aneurysm

  • Dissection Of Thoracic Aorta

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
Macaca mulatta KCNJ2 VGNC VGNC:73988
Rattus norvegicus KCNJ2 RGD RGD:61968
Mus musculus KCNJ2 MGD MGI:104744
Bos taurus KCNJ2 VGNC VGNC:30460
Canis familiaris KCNJ2 VGNC VGNC:42263
Others KCNJ2 NCBI