Gene
kank2
- ID
- ZDB-GENE-040724-121
- Name
- KN motif and ankyrin repeat domains 2
- Symbol
- kank2 Nomenclature History
- Previous Names
-
- si:busm1-118j2.12
- si:ch73-108m21.1
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Involved in glomerular basement membrane development and glomerular visceral epithelial cell development. Predicted to localize to cytoplasm and cytoskeleton. Human ortholog(s) of this gene implicated in nephrotic syndrome type 16. Is expressed in head; nervous system; pectoral fin; segmental plate; and trunk. Orthologous to human KANK2 (KN motif and ankyrin repeat domains 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Hensley et al., 2016
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Gee et al., 2015
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| nephrotic syndrome type 16 | Alliance | Nephrotic syndrome, type 16 | 617783 |
| palmoplantar keratoderma and woolly hair | Alliance | Palmoplantar keratoderma and woolly hair | 616099 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Ankyrin repeat | Ankyrin repeat-containing domain superfamily | Kank N-terminal motif | KN motif and ankyrin repeat domain-containing protein 1-4 |
|---|---|---|---|---|---|
|
UniProtKB:X1WE18
|
1085 | ||||
|
UniProtKB:A0A8M9PIR3
|
1085 |
Interactions and Pathways
No data available
Plasmids