KCNJ11 - potassium inwardly rectifying channel subfamily J member 11 Gene
Also Known as BIR; HHF2; PHHI; IKATP; PNDM2; TNDM3; KIR6.2; MODY13
Species: Homo sapiens
About KCNJ11
This gene has 7 transcripts (splice variants), 195 orthologues, 15 paralogues and is associated with 15 phenotypes. Broad expression in brain (RPKM 2.5), thyroid (RPKM 2.3) and 20 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, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated Insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]
KCNJ11 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_000525.4 | NP_000516.3 | ATP-sensitive inward rectifier potassium channel 11 isoform 1 |
| NM_001166290.2 | NP_001159762.1 | ATP-sensitive inward rectifier potassium channel 11 isoform 2 |
| NM_001377296.1 | NP_001364225.1 | ATP-sensitive inward rectifier potassium channel 11 isoform 2 |
| NM_001377297.1 | NP_001364226.1 | ATP-sensitive inward rectifier potassium channel 11 isoform 2 |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables ankyrin binding |
IPI
IPI: Inferred from physical interaction
|
20610380 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
19805355 | GOA |
| enables transmembrane transporter binding |
IPI
IPI: Inferred from physical interaction
|
20610380 | GOA |
| enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential |
IDA
IDA: Inferred from direct assay
|
18945825 | GOA |
| enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential |
IMP
IMP: Inferred from mutant phenotype
|
18945825 | GOA |
| enables voltage-gated potassium channel activity |
IDA
IDA: Inferred from direct assay
|
19805355 | GOA |
| Biological Process GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| involved in glucose metabolic process |
IMP
IMP: Inferred from mutant phenotype
|
8923010 | GOA |
| involved in negative regulation of insulin secretion |
IMP
IMP: Inferred from mutant phenotype
|
8923010 | GOA |
| involved in nervous system process |
IMP
IMP: Inferred from mutant phenotype
|
15115830 | GOA |
| involved in potassium ion transmembrane transport |
IDA
IDA: Inferred from direct assay
|
19805355 | GOA |
| involved in regulation of insulin secretion |
IMP
IMP: Inferred from mutant phenotype
|
15115830 | GOA |
| involved in regulation of membrane potential |
IDA
IDA: Inferred from direct assay
|
18073297 | GOA |
| involved in response to ATP |
IDA
IDA: Inferred from direct assay
|
15583126 | GOA |
| involved in response to xenobiotic stimulus |
IMP
IMP: Inferred from mutant phenotype
|
18073297 | GOA |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| part of inward rectifying potassium channel |
IDA
IDA: Inferred from direct assay
|
19805355 | GOA |
| part of inward rectifying potassium channel |
IPI
IPI: Inferred from physical interaction
|
29286281 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
19805355 | GOA |
KCNJ11 Protein Structure
IRK: Inward rectifier potassium channel (36 - 358)
- 0
- 100
- 200
- 300
- 390 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
ATP-sensitive inward rectifier potassium channel 11 |
|
KCNJ11 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Verweise |
|---|---|---|---|---|---|---|---|
|
Intra
|
KCNJ11 | Q14654 | ABCC8 | Homo sapiens | Q09428-1 | 19805355 | |
|
Intra
|
KCNJ11 | Q14654 | EXOSC8 | Homo sapiens | Q96B26 | 32296183 | |
|
Intra
|
KCNJ11 | Q14654 | EXOSC8 | Homo sapiens | Q96B26 | 32296183 | |
|
Intra
|
KCNJ11 | Q14654 | EXOSC8 | Homo sapiens | Q96B26 | 32296183 | |
|
Intra
|
KCNJ11 | Q14654 | ANK2 | Homo sapiens | Q01484 | 19805355 | |
|
Intra
|
KCNJ11 | Q14654 | ANK2 | Homo sapiens | Q01484 | 19805355 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
|
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
|
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
|
| Diabetes Mellitus, Transient Neonatal, 3 |
|
|
| Permanent Neonatal Diabetes Mellitus |
|
|
| Diabetes Mellitus |
|
|
| Neonatal Diabetes |
|
|
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
|
| Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
|
| Intermediate Dend Syndrome |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Hyperinsulinemic Hypoglycemia |
|
|
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
|
| Transient Neonatal Diabetes Mellitus |
|
|
| Isolated Permanent Neonatal Diabetes Mellitus |
|
|
| Maturity-Onset Diabetes Of The Young |
|
|
| Hypoglycemia |
|
|
| Hyperinsulinism |
|
|
| Gestational Diabetes |
|
|
| Hypertrichosis |
|
|
| Monogenic Diabetes |
|
|
| Dermatitis, Atopic |
|
|
| Cantu Syndrome |
|
|
| Hyperglycemia |
|
|
| Cardiomyopathy, Dilated, 1o |
|
|
| Chronic Duodenal Ileus |
|
|
| Epilepsy |
|
|
| Maturity-Onset Diabetes Of The Young, Type 9 |
|
|
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
|
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
|
| Maturity-Onset Diabetes Of The Young, Type 7 |
|
|
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
|
| Wolfram Syndrome 1 |
|
|
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
|
| Glucose Intolerance |
|
|
| Maturity-Onset Diabetes Of The Young, Type 2 |
|
|
| Munchausen By Proxy |
|
|
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
|
| Maturity-Onset Diabetes Of The Young, Type 1 |
|
|
| Maturity-Onset Diabetes Of The Young, Type 4 |
|
|
| Maturity-Onset Diabetes Of The Young, Type 6 |
|
|
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
|
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
|
| Renal Cysts And Diabetes Syndrome |
|
|
| Asphyxia Neonatorum |
|
|
| Pancreatic Agenesis |
|
|
| Prediabetes Syndrome |
|
|
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
|
| Factitious Disorder |
|
|
| Hypoglycemia, Leucine-Induced |
|
|
| Developmental Coordination Disorder |
|
|
| Wolfram Syndrome |
|
|
| Diabetes Mellitus, Ketosis-Prone |
|
|
| Coronary Artery Vasospasm |
|
|
| Fetal Erythroblastosis |
|
|
| Type 1 Diabetes Mellitus 12 |
|
|
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
|
| Umbilical Hernia |
|
|
| Hypokalemic Periodic Paralysis, Type 1 |
|
|
| Cystic Fibrosis |
|
|
| Long Qt Syndrome 1 |
|
|
| Brugada Syndrome |
|
|
| Beckwith-Wiedemann Syndrome |
|
|
| Long Qt Syndrome |
|
|
| Familial Atrial Fibrillation |
|
|
| Patent Ductus Arteriosus 1 |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | KCNJ11 | VGNC | VGNC:42259 |
| Mus musculus | KCNJ11 | MGD | MGI:107501 |
| Rattus norvegicus | KCNJ11 | RGD | RGD:69247 |
| Bos taurus | KCNJ11 | VGNC | VGNC:30455 |
| Felis catus | KCNJ11 | VGNC | VGNC:67911 |
| Others | KCNJ11 | NCBI |