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
- Predicted to have actin filament binding activity. Involved in skeletal myofibril assembly. Predicted to localize to actin filament. Human ortholog(s) of this gene implicated in nemaline myopathy 1. Is expressed in several structures, including adaxial cell; alar plate midbrain region; axis; brain; and musculature system. 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 myopathy 4A | Alliance | Congenital myopathy 4A, autosomal dominant | 255310 |
| nemaline myopathy 1 | Alliance | Congenital myopathy 4B, autosomal recessive | 609284 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | DNA repair protein XRCC4-like, C-terminal | Tropomyosin |
|---|---|---|---|
|
UniProtKB:A0A8M2B6C5
|
248 | ||
|
UniProtKB:A0A8M2B602
|
284 | ||
|
UniProtKB:A0A2R8Q650
|
284 | ||
|
UniProtKB:A0A8M2B695
|
248 | ||
|
UniProtKB:I3ISQ1
|
284 | ||
|
UniProtKB:Q6P0W3
|
284 | ||
|
UniProtKB:Q803M1
|
248 |
Interactions and Pathways
No data available
Plasmids
No data available