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 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. 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