KCNJ2 - potassium inwardly rectifying channel subfamily J member 2 Gene
Also Known as IRK1; LQT7; SQT3; ATFB9; HHIRK1; KIR2.1; HHBIRK1
Species: Homo sapiens
About KCNJ2
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 | References | 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 |
| Cellular Component GO Annotation | Evidence | References | 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 |
KCNJ2 Protein Structure
IRK_N: Inward rectifier potassium channel N-terminal (1 - 47)
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 |
|
KCNJ2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
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 |
KCNJ2 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83126 | Kir2.1 Antibody (YA2871) | WB, IHC-P, ICC/IF | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
|
| Short Qt Syndrome 3 |
|
|
| Atrial Fibrillation, Familial, 9 |
|
|
| Glycogen Storage Disease Iv |
|
|
| Familial Short Qt Syndrome |
|
|
| Familial Atrial Fibrillation |
|
|
| Periodic Paralysis |
|
|
| Short Qt Syndrome |
|
|
| Atrial Fibrillation |
|
|
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
|
| Long Qt Syndrome |
|
|
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
|
| Campomelic Dysplasia |
|
|
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
|
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
|
| Timothy Syndrome |
|
|
| Familial Periodic Paralysis |
|
|
| Hyperkalemic Periodic Paralysis |
|
|
| Long Qt Syndrome 6 |
|
|
| Long Qt Syndrome 2 |
|
|
| Paramyotonia Congenita Of Von Eulenburg |
|
|
| Long Qt Syndrome 13 |
|
|
| Long Qt Syndrome 5 |
|
|
| Long Qt Syndrome 3 |
|
|
| Long Qt Syndrome 14 |
|
|
| Heart Disease |
|
|
| Long Qt Syndrome 15 |
|
|
| Long Qt Syndrome 10 |
|
|
| Long Qt Syndrome 9 |
|
|
| Hypokalemic Periodic Paralysis, Type 1 |
|
|
| Long Qt Syndrome 11 |
|
|
| Congestive Heart Failure |
|
|
| Long Qt Syndrome 12 |
|
|
| Myotonia Congenita |
|
|
| Jervell And Lange-Nielsen Syndrome 1 |
|
|
| Brugada Syndrome 4 |
|
|
| Intrinsic Cardiomyopathy |
|
|
| Long Qt Syndrome 1 |
|
|
| Heart Conduction Disease |
|
|
| Sinoatrial Node Disease |
|
|
| Third-Degree Atrioventricular Block |
|
|
| Scoliosis |
|
|
| First-Degree Atrioventricular Block |
|
|
| Atrioventricular Block |
|
|
| Bartter Syndrome, Type 4a, Neonatal, With Sensorineural Deafness |
|
|
| Brugada Syndrome |
|
|
| Aortic Valve Disease 1 |
|
|
| Chromosome 2q35 Duplication Syndrome |
|
|
| Lipoprotein Quantitative Trait Locus |
|
|
| Left Ventricular Noncompaction |
|
|
| Autism |
|
|
| Congenital Myasthenic Syndrome |
|
|
| Orofacial Cleft |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Patent Foramen Ovale |
|
|
| Dilated Cardiomyopathy |
|
|
| Aortic Aneurysm, Familial Thoracic 1 |
|
|
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 |