KCNJ5 - potassium inwardly rectifying channel subfamily J member 5 Gene
Also Known as CIR; GIRK4; KATP1; LQT13; KIR3.4
Species: Homo sapiens
About KCNJ5
This gene has 3 transcripts (splice variants), 206 orthologues, 15 paralogues and is associated with 65 phenotypes. Biased expression in adrenal (RPKM 34.9), spleen (RPKM 8.6) and 4 other tissues.
Summary
This gene encodes an integral membrane protein which belongs to one of seven subfamilies of inward-rectifier Potassium Channel proteins called Potassium Channel subfamily J. The encoded protein is a subunit of the Potassium Channel which is homotetrameric. It is controlled by G-proteins and has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Naturally occurring mutations in this gene are associated with aldosterone-producing adenomas. [provided by RefSeq, Aug 2017]
KCNJ5 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_000890.5 | NP_000881.3 | G protein-activated inward rectifier potassium channel 4 |
| NM_001354169.2 | NP_001341098.1 | G protein-activated inward rectifier potassium channel 4 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| contributes to inward rectifier potassium channel activity |
IDA
IDA: Inferred from direct assay
|
12297500 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
12297500 | GOA |
| enables voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization |
IMP
IMP: Inferred from mutant phenotype
|
20560207 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in membrane repolarization during atrial cardiac muscle cell action potential |
IMP
IMP: Inferred from mutant phenotype
|
20560207 | GOA |
| involved in potassium ion import across plasma membrane |
IDA
IDA: Inferred from direct assay
|
12297500 | GOA |
| involved in regulation of heart rate by cardiac conduction |
IMP
IMP: Inferred from mutant phenotype
|
20560207 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of voltage-gated potassium channel complex |
IDA
IDA: Inferred from direct assay
|
20560207 | GOA |
KCNJ5 Protein Structure
IRK: Inward rectifier potassium channel (54 - 375)
- 0
- 100
- 200
- 300
- 400
- 419 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
G protein-activated inward rectifier potassium channel 4 |
|
KCNJ5 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
KCNJ5 | P48544 | KCNJ15 | Homo sapiens | Q99712 | 32296183 | |
|
Intra
|
KCNJ5 | P48544 | KCNJ15 | Homo sapiens | Q99712 | 32296183 | |
|
Intra
|
KCNJ5 | P48544 | KCNJ15 | Homo sapiens | Q99712 | 32296183 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hyperaldosteronism, Familial, Type Iii |
|
|
| Long Qt Syndrome 13 |
|
|
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
|
| Long Qt Syndrome |
|
|
| Long Qt Syndrome 1 |
|
|
| Osteoarthritis |
|
|
| Neonatal Diabetes |
|
|
| Hyperinsulinism |
|
|
| Adrenal Carcinoma |
|
|
| Hypokalemia |
|
|
| Hyperinsulinemic Hypoglycemia |
|
|
| Ischemia |
|
|
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
|
| Adrenal Gland Disease |
|
|
| Conn'S Syndrome |
|
|
| Myocardial Stunning |
|
|
| Hyperaldosteronism, Familial, Type I |
|
|
| Hypoglycemia |
|
|
| Lipoprotein Quantitative Trait Locus |
|
|
| Long Qt Syndrome 10 |
|
|
| Permanent Neonatal Diabetes Mellitus |
|
|
| Long Qt Syndrome 11 |
|
|
| Heart Disease |
|
|
| Adrenal Adenoma |
|
|
| Vitreoretinal Degeneration, Snowflake Type |
|
|
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
|
| Long Qt Syndrome 9 |
|
|
| Primary Pigmented Nodular Adrenocortical Disease |
|
|
| Long Qt Syndrome 2 |
|
|
| Hyperkalemic Periodic Paralysis |
|
|
| Short Qt Syndrome |
|
|
| Long Qt Syndrome 3 |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Endocrine Organ Benign Neoplasm |
|
|
| Familial Periodic Paralysis |
|
|
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
|
| Myocardial Infarction |
|
|
| Night Blindness, Congenital Stationary, Type 1h |
|
|
| Hypokalemic Periodic Paralysis, Type 1 |
|
|
| Hypertension, Essential |
|
|
| Adrenal Cortex Disease |
|
|
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
|
| Liddle Syndrome 1 |
|
|
| Familial Atrial Fibrillation |
|
|
| Diabetes Mellitus |
|
|
| Heart Conduction Disease |
|
|
| Adrenal Cortical Carcinoma |
|
|
| Carney Complex Variant |
|
|
| Brugada Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | KCNJ5 | VGNC | VGNC:42266 |
| Felis catus | KCNJ5 | VGNC | VGNC:82039 |
| Bos taurus | KCNJ5 | VGNC | VGNC:30462 |
| Rattus norvegicus | KCNJ5 | RGD | RGD:61971 |
| Mus musculus | KCNJ5 | MGD | MGI:104755 |
| Macaca mulatta | KCNJ5 | VGNC | VGNC:73990 |
| Others | KCNJ5 | NCBI |