• Gene id: 8557

Gene Summary

• Gene Symbol: TCAP   Gene   UCSC   Ensembl
• Aliases: CMD1N, CMH25, LGMD2G, LGMDR7, T-cap, TELE, telethonin
• Gene name: titin-cap
• Alternate names: telethonin, 19 kDa sarcomeric protein, limb girdle muscular dystrophy 2G (autosomal recessive), teneurin C-terminal associated peptide, titin cap protein,
• Gene location: 17q12 (39665348: 39666553)     Exons: 2     NC_000017.11
• Gene summary(Entrez): Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. Thi
• OMIM: 604488

Protein Summary

• Protein general information: O15273  
  • Name: Telethonin (Titin cap protein)
  • Length: 167  
  • Mass: 19052
  • Tissue specificity: Heart and skeletal muscle.
• Sequence:

  MATSELSCEVSEENCERREAFWAEWKDLTLSTRPEEGCSLHEEDTQRHETYHQQGQCQVLVQRSPWLMMRMGILG
  RGLQEYQLPYQRVLPLPIFTPAKMGATKEEREDTPIQLQELLALETALGGQCVDRQEVAEITKQLPPVVPVSKPG
  ALRRSLSRSMSQEAQRG

• Structural information:
  • Interpro: IPR015667  IPR023111  
  • PDB: 1YA5 2F8V
  • PDBsum: 1YA5 2F8V
  • DIP: 35730
  • STRING: ENSP00000312624
• Other Databases: GeneCards:  TCAP  Malacards:  TCAP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0055008	cardiac muscle tissue morphogenesis	IBA	biological process
GO:0055003	cardiac myofibril assembly	IBA	biological process
GO:0035995	detection of muscle stretch	IBA	biological process
GO:0031432	titin binding	IBA	molecular function
GO:0030241	skeletal muscle myosin thick filament assembly	IBA	biological process
GO:0030240	skeletal muscle thin filament assembly	IBA	biological process
GO:0008307	structural constituent of muscle	IBA	molecular function
GO:0070080	titin Z domain binding	IBA	molecular function
GO:0060048	cardiac muscle contraction	IBA	biological process
GO:0048769	sarcomerogenesis	IBA	biological process
GO:0048739	cardiac muscle fiber development	IBA	biological process
GO:0030674	protein-macromolecule adaptor activity	IBA	molecular function
GO:0030018	Z disc	IBA	cellular component
GO:0003009	skeletal muscle contraction	IBA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0008307	structural constituent of muscle	TAS	molecular function
GO:0065003	protein-containing complex assembly	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0030049	muscle filament sliding	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031674	I band	IEA	cellular component
GO:0001756	somitogenesis	IEA	biological process
GO:0007512	adult heart development	IEA	biological process
GO:0030018	Z disc	IEA	cellular component
GO:0030916	otic vesicle formation	IEA	biological process
GO:0030674	protein-macromolecule adaptor activity	IDA	molecular function
GO:0008307	structural constituent of muscle	IMP	molecular function
GO:0031432	titin binding	IPI	molecular function
GO:0031432	titin binding	IPI	molecular function
GO:0031432	titin binding	IPI	molecular function
GO:0044325	ion channel binding	IPI	molecular function
GO:0051373	FATZ binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070080	titin Z domain binding	IPI	molecular function
GO:0036122	BMP binding	IPI	molecular function
GO:0030018	Z disc	IDA	cellular component
GO:0030018	Z disc	IDA	cellular component
GO:0014898	cardiac muscle hypertrophy in response to stress	IMP	biological process
GO:0030240	skeletal muscle thin filament assembly	IMP	biological process
GO:0030241	skeletal muscle myosin thick filament assembly	IMP	biological process
GO:0031674	I band	ISS	cellular component
GO:0035994	response to muscle stretch	TAS	biological process
GO:0035995	detection of muscle stretch	IMP	biological process
GO:0050982	detection of mechanical stimulus	TAS	biological process
GO:0055003	cardiac myofibril assembly	IMP	biological process
GO:0055008	cardiac muscle tissue morphogenesis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003009	skeletal muscle contraction	IEP	biological process
GO:0003300	cardiac muscle hypertrophy	IMP	biological process
GO:0007512	adult heart development	IMP	biological process
GO:0045214	sarcomere organization	TAS	biological process
GO:0045214	sarcomere organization	IMP	biological process
GO:0048739	cardiac muscle fiber development	IMP	biological process
GO:0048769	sarcomerogenesis	IMP	biological process
GO:0060048	cardiac muscle contraction	IMP	biological process
GO:0060048	cardiac muscle contraction	IMP	biological process
GO:0030017	sarcomere	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Limb-girdle muscular dystrophy	KEGG:H00593
Dilated cardiomyopathy	KEGG:H00294
Limb-girdle muscular dystrophy	KEGG:H00593
Dilated cardiomyopathy	KEGG:H00294
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)