Gene
acta2
- ID
- ZDB-GENE-030131-1229
- Name
- actin alpha 2, smooth muscle
- Symbol
- acta2 Nomenclature History
- Previous Names
-
- sma (1)
- wu:fb63d03
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to have ATP binding activity. Involved in heart contraction. Predicted to localize to several cellular components, including cell body; filopodium; and lamellipodium. Human ortholog(s) of this gene implicated in Moyamoya disease; megacystis-microcolon-intestinal hypoperistalsis syndrome; and thoracic aortic aneurysm. Is expressed in several structures, including cardiovascular system; gut; mesoderm; musculature system; and swim bladder. Orthologous to several human genes including ACTA2 (actin alpha 2, smooth muscle).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 51 figures from 28 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:92120 (15 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Moyamoya disease | Alliance | Moyamoya disease 5 | 614042 |
| thoracic aortic aneurysm | Alliance | Aortic aneurysm, familial thoracic 6 | 611788 |
| Smooth muscle dysfunction syndrome | 613834 |
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:Q6DHS1
|
377 |
Interactions and Pathways
No data available
Plasmids