Gene
kcnj13
- ID
- ZDB-GENE-070129-1
- Name
- potassium inwardly rectifying channel subfamily J member 13
- Symbol
- kcnj13 Nomenclature History
- Previous Names
-
- kir7.1 (1)
- jag
- jaguar
- obe
- obelix
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to enable inward rectifier potassium channel activity. Acts upstream of or within several processes, including establishment of pigment granule localization; melanocyte differentiation; and melanocyte migration. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including caudal fin; eye; heart; integument; and pleuroperitoneal region. Used to study Leber congenital amaurosis. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 16 and snowflake vitreoretinal degeneration. Orthologous to human KCNJ13 (potassium inwardly rectifying channel subfamily J member 13).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 25 figures from 11 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Leber congenital amaurosis 16 | Alliance | Leber congenital amaurosis 16 | 614186 |
| snowflake vitreoretinal degeneration | Alliance | Snowflake vitreoretinal degeneration | 193230 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Leber congenital amaurosis | kcnj13td15/td15 | standard conditions | Toms et al., 2019 |
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 | 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, Kir, cytoplasmic | Potassium channel, inwardly rectifying, transmembrane domain |
|---|---|---|---|---|---|---|
|
UniProtKB:Q0KIZ7
|
362 |
| Type | Name | Length (nt) | Analysis |
|---|---|---|---|
| antisense |
ottdart00000060027
(1)
|
1536 nt | |
| mRNA |
kcnj13-202
(1)
|
6855 nt |
Interactions and Pathways
No data available
Plasmids