Gene
tpm3
- ID
- ZDB-GENE-030826-16
- Name
- tropomyosin 3
- Symbol
- tpm3 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Is predicted to enable actin filament binding activity. Involved in actin filament organization and muscle contraction. Acts upstream of or within skeletal myofibril assembly. Is expressed in several structures, including adaxial cell; alar plate midbrain region; axis; brain; and musculature system. Human ortholog(s) of this gene implicated in congenital fiber-type disproportion and nemaline myopathy 1. Orthologous to human TPM3 (tropomyosin 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 28 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:77592 (21 images)
- cb674 (15 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Bonnet et al., 2017
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital fiber-type disproportion | Alliance | Myopathy, congenital, with fiber-type disproportion | 255310 |
| nemaline myopathy 1 | Alliance | CAP myopathy 1 | 609284 |
| nemaline myopathy 1 | Alliance | Nemaline myopathy 1, autosomal dominant or recessive | 609284 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | DNA repair protein XRCC4-like, C-terminal | Tropomyosin |
|---|---|---|---|
|
UniProtKB:Q6P0W3
|
284 | ||
|
UniProtKB:A5WW36
|
81 | ||
|
UniProtKB:A0A2R8RR81
|
248 | ||
|
UniProtKB:Q803M1
|
248 | ||
|
UniProtKB:I3ISQ1
|
284 | ||
|
UniProtKB:A0A2R8Q650
|
284 |
Interactions and Pathways
No data available
Plasmids
No data available