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
- Is predicted to enable inward rectifier potassium channel activity. Involved in potassium ion import across plasma membrane and regulation of ion transmembrane transport. Acts upstream of or within establishment of pigment granule localization; melanocyte differentiation; and melanocyte migration. Predicted to be located in membrane. Predicted to be integral component of membrane. Is expressed in brain; caudal fin; eye; gonad; and integument. 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
- 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