Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8557
Gene name Gene Name - the full gene name approved by the HGNC.	Titin-cap
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TCAP
Synonyms (NCBI Gene) Gene synonyms aliases	CMD1N, CMH25, LGMD2G, LGMDR7, T-cap, TELE, telethonin
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q12
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(22)

SNP ID	Visualize variation	Clinical significance	Consequence
rs45495192	C>A,G,T	Likely-pathogenic, likely-benign	Stop gained, missense variant, coding sequence variant
rs104894655	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs141019458	G>A	Pathogenic	Coding sequence variant, stop gained
rs143233087	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs146502276	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign, uncertain-significance	Coding sequence variant, synonymous variant
rs146906267	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs372538567	G>A	Conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs397516861	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs397516862	GAG>-	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Inframe deletion, coding sequence variant
rs552865793	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs773317399	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs775636212	C>A,T	Pathogenic, uncertain-significance	Missense variant, synonymous variant, coding sequence variant
rs778568339	->AGGTGTCG	Pathogenic	Frameshift variant, coding sequence variant
rs778851652	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs779699520	G>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs786205076	GG>-	Pathogenic	Coding sequence variant, splice donor variant
rs794729178	G>A,C,T	Likely-pathogenic	Intron variant
rs863224933	->GAGGTGT	Likely-pathogenic	Coding sequence variant, stop gained
rs886044421	->TGTGAGC	Likely-pathogenic	Inframe indel, coding sequence variant, stop gained
rs1555606959	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555606976	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567864804	A>G	Likely-pathogenic	Initiator codon variant, missense variant

Show/Hide all(33)

miRTarBase ID	miRNA	Experiments
MIRT2124637	hsa-miR-137	CLIP-seq
MIRT2124638	hsa-miR-371-3p	CLIP-seq
MIRT2124639	hsa-miR-371b-3p	CLIP-seq
MIRT2124640	hsa-miR-4473	CLIP-seq
MIRT2124641	hsa-miR-4671-3p	CLIP-seq
MIRT2124642	hsa-miR-4715-3p	CLIP-seq
MIRT2124643	hsa-miR-4727-5p	CLIP-seq
MIRT2124644	hsa-miR-4729	CLIP-seq
MIRT2124645	hsa-miR-4769-3p	CLIP-seq
MIRT2124646	hsa-miR-515-3p	CLIP-seq
MIRT2124647	hsa-miR-519e	CLIP-seq
MIRT2124648	hsa-miR-593	CLIP-seq
MIRT2347013	hsa-miR-1283	CLIP-seq
MIRT2347014	hsa-miR-1285	CLIP-seq
MIRT2347015	hsa-miR-149	CLIP-seq
MIRT2347016	hsa-miR-3064-5p	CLIP-seq
MIRT2347017	hsa-miR-3176	CLIP-seq
MIRT2347018	hsa-miR-3187-5p	CLIP-seq
MIRT2347019	hsa-miR-326	CLIP-seq
MIRT2347020	hsa-miR-330-3p	CLIP-seq
MIRT2347021	hsa-miR-330-5p	CLIP-seq
MIRT2347022	hsa-miR-378g	CLIP-seq
MIRT2347023	hsa-miR-3922-3p	CLIP-seq
MIRT2347024	hsa-miR-3943	CLIP-seq
MIRT2347025	hsa-miR-4323	CLIP-seq
MIRT2347026	hsa-miR-4470	CLIP-seq
MIRT2347027	hsa-miR-4486	CLIP-seq
MIRT2347028	hsa-miR-4757-5p	CLIP-seq
MIRT2347029	hsa-miR-4793-5p	CLIP-seq
MIRT2347030	hsa-miR-4794	CLIP-seq
MIRT2347031	hsa-miR-520d-5p	CLIP-seq
MIRT2347032	hsa-miR-524-5p	CLIP-seq
MIRT2347033	hsa-miR-612	CLIP-seq

Show/Hide all(58)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001756	Process	Somitogenesis	IEA
GO:0003009	Process	Skeletal muscle contraction	IBA
GO:0003009	Process	Skeletal muscle contraction	IEP	9817758
GO:0003009	Process	Skeletal muscle contraction	NAS	16407954
GO:0003300	Process	Cardiac muscle hypertrophy	IMP	15582318
GO:0005515	Function	Protein binding	IPI	10984498, 11842093, 11846417, 15582318, 16407954, 16713569, 16962094, 17921333, 19622741, 23414517, 24860983, 28514442, 32296183, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007512	Process	Adult heart development	IEA
GO:0007512	Process	Adult heart development	IMP	9817758
GO:0008307	Function	Structural constituent of muscle	IBA
GO:0008307	Function	Structural constituent of muscle	IMP	9817758
GO:0008307	Function	Structural constituent of muscle	TAS	9350988
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0014898	Process	Cardiac muscle hypertrophy in response to stress	IMP	12507422
GO:0030017	Component	Sarcomere	IEA
GO:0030018	Component	Z disc	IBA
GO:0030018	Component	Z disc	IDA	9817758, 17921333
GO:0030018	Component	Z disc	IEA
GO:0030049	Process	Muscle filament sliding	NAS	16407954
GO:0030240	Process	Skeletal muscle thin filament assembly	IBA
GO:0030240	Process	Skeletal muscle thin filament assembly	IMP	9817758
GO:0030241	Process	Skeletal muscle myosin thick filament assembly	IBA
GO:0030241	Process	Skeletal muscle myosin thick filament assembly	IMP	9817758
GO:0030674	Function	Protein-macromolecule adaptor activity	IBA
GO:0030674	Function	Protein-macromolecule adaptor activity	IDA	15582318
GO:0030916	Process	Otic vesicle formation	IEA
GO:0031432	Function	Titin binding	IBA
GO:0031432	Function	Titin binding	IPI	9817758, 11846417, 15582318
GO:0031674	Component	I band	IEA
GO:0031674	Component	I band	ISS
GO:0035994	Process	Response to muscle stretch	TAS	17921333
GO:0035995	Process	Detection of muscle stretch	IBA
GO:0035995	Process	Detection of muscle stretch	IMP	12507422
GO:0036122	Function	BMP binding	IPI	17921333
GO:0044325	Function	Transmembrane transporter binding	IPI	11697903
GO:0045214	Process	Sarcomere organization	IMP	9817758
GO:0045214	Process	Sarcomere organization	NAS	16407954
GO:0045214	Process	Sarcomere organization	TAS	17921333
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0048729	Process	Tissue morphogenesis	IEA
GO:0048769	Process	Sarcomerogenesis	IBA
GO:0048769	Process	Sarcomerogenesis	IMP	9817758
GO:0050982	Process	Detection of mechanical stimulus	TAS	17921333
GO:0051373	Function	FATZ binding	IPI	15582318
GO:0055003	Process	Cardiac myofibril assembly	IBA
GO:0055003	Process	Cardiac myofibril assembly	IMP	9817758
GO:0055003	Process	Cardiac myofibril assembly	NAS	16407954
GO:0055008	Process	Cardiac muscle tissue morphogenesis	IBA
GO:0055008	Process	Cardiac muscle tissue morphogenesis	IMP	9817758
GO:0055013	Process	Cardiac muscle cell development	IMP	9817758
GO:0060048	Process	Cardiac muscle contraction	IBA
GO:0060048	Process	Cardiac muscle contraction	IMP	12507422, 15582318
GO:0060048	Process	Cardiac muscle contraction	NAS	16407954
GO:0060090	Function	Molecular adaptor activity	EXP	16713295
GO:0065003	Process	Protein-containing complex assembly	TAS	9817758
GO:0070080	Function	Titin Z domain binding	IPI	11846417
GO:1990733	Component	Titin-telethonin complex	IPI	16407954

MIM	HGNC	e!Ensembl
604488	11610	ENSG00000173991

Protein

UniProt ID

O15273

Protein name

Telethonin (Titin cap protein)

Protein function

Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk.

PDB

1YA5 , 2F8V

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09470	Telethonin	3 → 167	Telethonin protein	Domain

Tissue specificity

TISSUE SPECIFICITY: Heart and skeletal muscle.

Sequence

MATSELSCEVSEENCERREAFWAEWKDLTLSTRPEEGCSLHEEDTQRHETYHQQGQCQVL
VQRSPWLMMRMGILGRGLQEYQLPYQRVLPLPIFTPAKMGATKEEREDTPIQLQELLALE
TALGGQCVDRQEVAEITKQLPPVVPVSKPGALRRSLSRSMSQEAQRG

Sequence length

167

Interactions

View interactions

	KEGG		Reactome
	Cytoskeleton in muscle cells		Striated Muscle Contraction

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Cardiomyopathy	Primary dilated cardiomyopathy	rs104894655	N/A
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy	rs104894655, rs1567864804, rs773317399, rs141019458	N/A
Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2G	rs778568339, rs104894655, rs1555606959, rs778851652, rs786205076, rs45495192, rs794729178, rs863224933, rs1555606976	N/A

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Brugada Syndrome	brugada syndrome	N/A	N/A	ClinVar
Long QT Syndrome	long qt syndrome	N/A	N/A	ClinVar
Myopathy	dilated cardiomyopathy	N/A	N/A	GenCC
ventricular tachycardia	Ventricular tachycardia	N/A	N/A	ClinVar
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White pattern	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	16849520
Alzheimer Disease	Associate	24965283
Atrial Fibrillation	Associate	32565061
Cardiomyopathies	Associate	15582318, 16352453, 33595762
Cardiomyopathy Dilated	Associate	15582318, 16352453, 20201937, 24037902, 34011823, 37752589
Cardiomyopathy Hypertrophic	Associate	15582318, 16352453, 32565061, 37752589
familial dilated cardiomyopathy	Associate	19412328
Glycogen Storage Disease Type II	Associate	31931849
Heart Diseases	Associate	33595762
Heart Failure	Associate	32565061
Hypertrophy	Inhibit	25055047
Immunologic Deficiency Syndromes	Inhibit	18948002
Immunologic Deficiency Syndromes	Associate	18948002, 37752589
Intestinal Pseudo Obstruction	Associate	18408010, 21959314, 37752589
Lung Diseases	Associate	36100284
Lung Diseases Interstitial	Associate	36100284
Lymphedema Congenital Recessive	Associate	31931849
Mobility Limitation	Associate	25055047
Muscle Weakness	Associate	25055047
Muscular Dystrophies	Associate	36100284
Muscular Dystrophies Limb Girdle	Associate	22029105, 32576226, 36463458
Muscular Dystrophy Limb Girdle Type 2G	Associate	12379311, 18948002, 22029105, 25055047, 30944467, 36463458, 37752589, 37974208
Myopathies Nemaline	Associate	12379311
Neoplasms	Associate	16849520
Neuromuscular Diseases	Associate	12379311
Osteosarcoma	Associate	29760609
Peroneal Neuropathies	Associate	25055047
Rhabdomyolysis	Associate	36100284
Scleroderma Systemic	Associate	36100284

TCAP (titin-cap)