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
- Acts upstream of or within glomerular basement membrane development and podocyte development. Predicted to be located in mitochondrion. Predicted to be active in cytoplasm. Is expressed in head; nervous system; pectoral fin; segmental plate; and trunk. Human ortholog(s) of this gene implicated in nephrotic syndrome type 16. 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