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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 establishment of pigment granule localization; melanocyte differentiation; and melanocyte migration. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be active in plasma 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
Expression
All Expression Data
3 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
21 figures from 9 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With kcnj13 Human Ortholog
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
Associated With kcnj13 Via Experimental Models
Gene Ontology
Protein Domains
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
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations