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 enable chloride channel activity. Predicted to be involved in chloride transmembrane transport. Predicted to be located in membrane. Predicted to be active in plasma 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 | Anoctamin, transmembrane domain |
|---|---|---|---|---|
|
UniProtKB:A0A8M9PHI6
|
929 | |||
|
UniProtKB:A0A8M9PZA0
|
882 | |||
|
UniProtKB:A0A8M9P700
|
931 | |||
|
UniProtKB:A0A8M3APA6
|
917 |
Interactions and Pathways
No data available
Plasmids
No data available