Gene
kcnj11
- ID
- ZDB-GENE-060308-2
- Name
- potassium inwardly rectifying channel subfamily J member 11
- Symbol
- kcnj11 Nomenclature History
- Previous Names
-
- Kir6.2 (1)
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to have inward rectifier potassium channel activity. Involved in type B pancreatic cell development. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in familial hyperinsulinemic hypoglycemia 2 and glucose metabolism disease (multiple). Orthologous to human KCNJ11 (potassium inwardly rectifying channel subfamily J member 11).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from O'Hare et al., 2016
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| familial hyperinsulinemic hypoglycemia 2 | Alliance | Hyperinsulinemic hypoglycemia, familial, 2 | 601820 |
| maturity-onset diabetes of the young type 13 | Alliance | Maturity-onset diabetes of the young, type 13 | 616329 |
| transient neonatal diabetes mellitus | Alliance | Diabetes mellitus, transient neonatal 3 | 610582 |
| Diabetes, permanent neonatal 2, with or without neurologic features | 618856 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR040445 | Potassium channel, inwardly rectifying, transmembrane domain |
| Domain | IPR041647 | Inward rectifier potassium channel, C-terminal |
| Family | IPR003279 | Potassium channel, inwardly rectifying, Kir6.2 |
| Family | IPR016449 | Potassium channel, inwardly rectifying, Kir |
| Homologous_superfamily | IPR013518 | Potassium channel, inwardly rectifying, Kir, cytoplasmic |
| Homologous_superfamily | IPR014756 | Immunoglobulin E-set |
Domain Details Per Protein
| Protein | Length | Immunoglobulin E-set | Inward rectifier potassium channel, C-terminal | Potassium channel, inwardly rectifying, Kir | Potassium channel, inwardly rectifying, Kir6.2 | Potassium channel, inwardly rectifying, Kir, cytoplasmic | Potassium channel, inwardly rectifying, transmembrane domain |
|---|---|---|---|---|---|---|---|
|
UniProtKB:Q2HX26
|
381 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
kcnj11-201
(1)
|
Ensembl | 1,146 nt |
Interactions and Pathways
No data available
Plasmids