Gene
ank2b
- ID
- ZDB-GENE-041010-165
- Name
- ankyrin 2b, neuronal
- Symbol
- ank2b Nomenclature History
- Previous Names
-
- ank2
- zgc:101738 (1)
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable aspartic-type endopeptidase activity. Predicted to be involved in protein localization to T-tubule; protein localization to ciliary inversin compartment; and regulation of cardiac muscle contraction. Predicted to act upstream of or within proteolysis and signal transduction. Predicted to be located in cytoplasm and cytoskeleton. Predicted to be active in T-tubule and cilium. Is expressed in central nervous system; cranial ganglion; optic vesicle; and retinal ganglion cell layer. Human ortholog(s) of this gene implicated in ankyrin-B-related cardiac arrhythmia; atrial fibrillation; long QT syndrome; and sick sinus syndrome. Orthologous to human ANK2 (ankyrin 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:101738 (11 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| ankyrin-B-related cardiac arrhythmia | Alliance | Cardiac arrhythmia, ankyrin-B-related | 600919 |
| ankyrin-B-related cardiac arrhythmia | Alliance | Long QT syndrome 4 | 600919 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR001969 | Aspartic peptidase, active site |
| Domain | IPR000488 | Death domain |
| Domain | IPR000906 | ZU5 domain |
| Domain | IPR040745 | Ankyrin, UPA domain |
| Family | IPR051165 | Multifunctional Ankyrin Repeat Domain-Containing Protein |
| Homologous_superfamily | IPR011029 | Death-like domain superfamily |
| Homologous_superfamily | IPR036770 | Ankyrin repeat-containing domain superfamily |
| Repeat | IPR002110 | Ankyrin repeat |
Domain Details Per Protein
Interactions and Pathways
No data available
Plasmids
No data available