Telethonin

TCAP
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1YA5, 2F8V
Identifiers
Aliases	TCAP, CMD1N, LGMD2G, T-cap, TELE, telethonin, CMH25, titin-cap, LGMDR7
External IDs	OMIM: 604488; MGI: 1330233; HomoloGene: 2724; GeneCards: TCAP; OMA:TCAP - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	39,666,554 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	98,275,779 bp
RNA expression pattern
	Top expressed in
	apex of heart; ; muscle of thigh; ; Skeletal muscle tissue of rectus abdominis; ; right auricle of heart; ; gastrocnemius muscle; ; thoracic diaphragm; ; glutes; ; myocardium of left ventricle; ; triceps brachii muscle; ; body of tongue;
	Top expressed in
	muscle of thigh; ; ankle; ; temporal muscle; ; triceps brachii muscle; ; digastric muscle; ; sternocleidomastoid muscle; ; medial head of gastrocnemius muscle; ; right ventricle; ; knee joint; ; intercostal muscle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein-macromolecule adaptor activity; transmembrane transporter binding; titin Z domain binding; titin binding; BMP binding; protein binding; FATZ binding; structural constituent of muscle;
Cellular component	cytoplasm; cytosol; I band; sarcomere; Z discdkac;
Biological process	somitogenesis; response to muscle stretch; sarcomerogenesis; cardiac muscle contraction; adult heart development; otic vesicle formation; skeletal muscle contraction; cardiac muscle hypertrophy; cardiac muscle tissue morphogenesis; skeletal muscle thin filament assembly; detection of muscle stretch; cardiac myofibril assembly; cardiac muscle hypertrophy in response to stress; detection of mechanical stimulus; muscle filament sliding; sarcomere organization; skeletal muscle myosin thick filament assembly; protein-containing complex assembly;
	Sources:Amigo / QuickGO
Orthologs
	8557
	21393
	ENSG00000173991
	ENSMUSG00000007877
	O15273
	O70548
	NM_003673
	NM_011540
	NP_003664; NP_003664.1
	NP_035670
	Wikidata
View/Edit Human	View/Edit Mouse

Telethonin, also known as Tcap, is a protein that in humans is encoded by the TCAP gene. Telethonin is expressed in cardiac and skeletal muscle at Z-discs and functions to regulate sarcomere assembly, T-tubule function and apoptosis. Telethonin has been implicated in several diseases, including limb-girdle muscular dystrophy, hypertrophic cardiomyopathy, dilated cardiomyopathy and idiopathic cardiomyopathy.