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
Is predicted to enable protein-macromolecule adaptor activity; titin Z domain binding activity; and titin binding activity. Is predicted to be a structural constituent of muscle. Involved in several processes, including detection of muscle stretch; myofibril assembly; and striated muscle contraction. Acts upstream of or within T-tubule organization and heart contraction. 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
Expression
All Expression Data
7 figures from 5 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
5 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With tcap Human Ortholog
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
Associated With tcap Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR015667 Telethonin
Homologous_superfamily IPR023111 Titin-like domain superfamily
Domain Details Per Protein
Protein Length Telethonin Titin-like domain superfamily
UniProtKB:E9QCX4 179
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations