Gene
ano5a
- ID
- ZDB-GENE-091013-2
- Name
- anoctamin 5a
- Symbol
- ano5a Nomenclature History
- Previous Names
-
- si:dkey-261m9.4
- tmem16ea (1)
- Type
- protein_coding_gene
- Location
- Chr: 25 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
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
|
UniProtKB:A0A8M9PHI6
|
929 | ||
|
UniProtKB:A0A8M9PZA0
|
882 | ||
|
UniProtKB:A0A8M9P700
|
931 | ||
|
UniProtKB:A0A8M3APA6
|
917 |
Interactions and Pathways
No data available
Plasmids
No data available