Gene
tcap
- ID
- ZDB-GENE-070501-5
- Name
- titin-cap (telethonin)
- Symbol
- tcap Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable protein-macromolecule adaptor activity; titin Z domain binding activity; and titin binding activity. Predicted to be a structural constituent of muscle. Acts upstream of or within several processes, including heart contraction; muscle cell development; and swimming behavior. Located in Z disc. Is expressed in heart; myotome; and skeletal muscle. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2G and hypertrophic cardiomyopathy 25. Orthologous to human TCAP (titin-cap).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 10 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive limb-girdle muscular dystrophy type 2G | Alliance | Muscular dystrophy, limb-girdle, autosomal recessive 7 | 601954 |
| hypertrophic cardiomyopathy 25 | Alliance | Cardiomyopathy, hypertrophic, 25 | 607487 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Telethonin | Titin-like domain superfamily |
|---|---|---|---|
|
UniProtKB:E9QCX4
|
179 |
Interactions and Pathways
No data available
Plasmids