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 located in several cellular components, including cytoskeleton; dense body; and focal adhesion. Predicted to be active in actin filament. Is expressed in several structures, including brain; eye; integument; musculature system; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in Baraitser-Winter syndrome 1; Baraitser-Winter syndrome 2; autosomal dominant nonsyndromic deafness 20; and thrombocytopenia. 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 |
| Becker nevus, syndromic or isolated, somatic mosaic | 604919 | ||
| Congenital smooth muscle hamartoma with or without hemihypertrophy, somatic mosaic | 620470 | ||
| Dystonia-deafness syndrome 1 | 607371 | ||
| Thrombocytopenia 8, with dysmorphic features and developmental delay | 620475 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Actin/actin-like conserved site | Actin, conserved site | Actin family | ATPase, nucleotide binding domain |
|---|---|---|---|---|---|---|
| UniProtKB:Q7ZVF9 | InterPro | 375 | ||||
| UniProtKB:A8WG05 | InterPro | 375 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| aberrant processed transcript |
actb2-207
(1)
|
Ensembl | 1,118 nt | ||
| mRNA |
actb2-201
(1)
|
Ensembl | 1,762 nt | ||
| mRNA |
actb2-206
(1)
|
Ensembl | 1,789 nt | ||
| mRNA |
actb2-208
(1)
|
Ensembl | 1,145 nt | ||
| ncRNA |
actb2-003
(1)
|
Ensembl | 730 nt | ||
| ncRNA |
actb2-004
(1)
|
Ensembl | 857 nt | ||
| ncRNA |
actb2-005
(1)
|
Ensembl | 867 nt | ||
| ncRNA |
actb2-006
(1)
|
Ensembl | 842 nt |
Interactions and Pathways
No data available
Plasmids