Gene
ano5b
- ID
- ZDB-GENE-061215-108
- Name
- anoctamin 5b
- Symbol
- ano5b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to have protein dimerization activity. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in Miyoshi muscular dystrophy 3; autosomal recessive limb-girdle muscular dystrophy type 2L; gnathodiaphyseal dysplasia; and isolated elevated serum creatine phosphokinase levels. Orthologous to human ANO5 (anoctamin 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2005
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu1092 (1 image)
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 |
|---|---|---|---|
| autosomal recessive limb-girdle muscular dystrophy type 2L | Alliance | Muscular dystrophy, limb-girdle, autosomal recessive 12 | 611307 |
| gnathodiaphyseal dysplasia | Alliance | Gnathodiaphyseal dysplasia | 166260 |
| Miyoshi muscular dystrophy 3 | Alliance | Miyoshi muscular dystrophy 3 | 613319 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Anoctamin | Anoctamin, dimerisation domain | Anoctamin, transmembrane domain |
|---|---|---|---|---|
|
UniProtKB:A1A5Z4
|
900 | |||
|
UniProtKB:A0A8M2BGR8
|
930 | |||
|
UniProtKB:A0A8M3BB15
|
878 |
Interactions and Pathways
No data available
Plasmids
No data available