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 have inward rectifier potassium channel activity. Involved in establishment of pigment granule localization; melanocyte differentiation; and melanocyte migration. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 16 and snowflake vitreoretinal degeneration. Is expressed in brain; caudal fin; eye; gonad; and integument. Orthologous to human KCNJ13 (potassium inwardly rectifying channel subfamily J member 13).
- 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
- 24 figures from 10 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 | IPR008062 | Inward rectifier potassium channel 13 |
| 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 13 | 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