Gene
actb2
- ID
- ZDB-GENE-000329-3
- Name
- actin, beta 2
- Symbol
- actb2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to be a structural constituent of postsynaptic actin cytoskeleton. Predicted to be involved in synaptic vesicle endocytosis. Predicted to localize to several cellular components, including actin filament; dense body; and focal adhesion. Human ortholog(s) of this gene implicated in Baraitser-Winter syndrome and autosomal dominant nonsyndromic deafness 20. Is expressed in several structures, including blastomere; brain; eye; musculature system; and pleuroperitoneal region. Orthologous to several human genes including ACTB (actin beta).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 23 figures from 18 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:56040 (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 |
|---|---|---|---|
| Baraitser-Winter syndrome 1 | Alliance | Baraitser-Winter syndrome 1 | 243310 |
| ?Dystonia, juvenile-onset | 607371 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Actin/actin-like conserved site | Actin, conserved site | Actin family | ATPase, nucleotide binding domain |
|---|---|---|---|---|---|
|
UniProtKB:A0FKD7
|
30 | ||||
|
UniProtKB:A8WG05
|
375 | ||||
|
UniProtKB:Q7ZVF9
|
375 | ||||
|
UniProtKB:F1QC15
|
128 | ||||
|
UniProtKB:B2GTB1
|
375 |
Interactions and Pathways
No data available
Plasmids