Gene
piezo2a
- ID
- ZDB-GENE-131119-76
- Name
- piezo-type mechanosensitive ion channel component 2a
- Symbol
- piezo2a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Enables mechanosensitive monoatomic ion channel activity. Acts upstream of or within aortic valve morphogenesis and outflow tract morphogenesis. Predicted to be active in plasma membrane. Is expressed in bulbus arteriosus and vertebral column.
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Faucherre et al., 2020
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| distal arthrogryposis type 3 | Alliance | Arthrogryposis, distal, type 3 | 114300 |
| distal arthrogryposis type 5 | Alliance | Arthrogryposis, distal, type 5 | 108145 |
| Arthrogryposis, distal, with impaired proprioception and touch | 617146 | ||
| ?Marden-Walker syndrome | 248700 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Piezo family | Piezo non-specific cation channel, cap domain | Piezo, TM25-28 |
|---|---|---|---|---|---|
| UniProtKB:A0A8M9PXR1 | InterPro | 2752 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
piezo2-202
(1)
|
Ensembl | 7,869 nt | ||
| mRNA |
piezo2a.2-201
(1)
|
Ensembl | 3,277 nt |
Interactions and Pathways
No data available
Plasmids
No data available