TCAP titin-cap [Homo sapiens (human)] - Gene

Summary

Official Symbol: TCAPprovided by HGNC
Official Full Name: titin-capprovided by HGNC
Primary source: HGNC:HGNC:11610
See related: Ensembl:ENSG00000173991 MIM:604488; AllianceGenome:HGNC:11610
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TELE; CMD1N; CMH25; T-cap; LGMD2G; LGMDR7; telethonin
Summary: 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. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward heart (RPKM 1072.6) See more
Orthologs: mouse all
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Genomic context

Location:: 17q12

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (39665349..39666554)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (40528914..40530119)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (37821602..37822807)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TCAP gene is not a common cause of cardiomyopathy in Iranian patients.
Title: TCAP gene is not a common cause of cardiomyopathy in Iranian patients.
The clinical features and TCAP mutation spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7.
Title: The clinical features and TCAP mutation spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7.
Distal myopathy due to TCAP variants in four unrelated Chinese patients.
Title: Distal myopathy due to TCAP variants in four unrelated Chinese patients.
Telethonin variants found in Brugada syndrome, J-wave pattern ECG, and ARVC reduce peak Nav 1.5 currents in HEK-293 cells.
Title: Telethonin variants found in Brugada syndrome, J-wave pattern ECG, and ARVC reduce peak Na(v) 1.5 currents in HEK-293 cells.
Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathy.
Title: Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathy.
limb-girdle muscular dystrophy type 2G appears to be a common form among Bulgarian Muslims. Homozygosity for c.75G>A, p.Trp25X is associated with a homogeneous clinical presentation, but the clinical course and severity of the disease show inter- and intra-familial variation.
Title: Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation.
based on the crystal structure in which Z1Z2 and telethonin1-90 assemble into a 2:1 complex, a single chain fusion protein was designed, comprising two Z1Z2 modules that are connected by flexible linkers N- and C-terminally of the telethonin1-90. Expression of this fusion protein, named ZTZ, affords high yields of soluble expressed and purified protein
Title: Expression and purification of a difficult sarcomeric protein: Telethonin.
Data indicate LGMD2G protein TCAP association with limb girdle muscular dystrophy 2G (LGMD2G).
Title: Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G.
Report TCAP mutations in dilated cardiomyopathy.
Title: The genetics of dilated cardiomyopathy: a prioritized candidate gene study of LMNA, TNNT2, TCAP, and PLN.
cardiac telethonin is constitutively bis-phosphorylated and suggest that such phosphorylation is critical for normal telethonin function, which may include maintenance of transverse tubule organization and intracellular Ca(2+) transients.
Title: Phosphoregulation of the titin-cap protein telethonin in cardiac myocytes.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive limb-girdle muscular dystrophy type 2G MedGen: C1866008 OMIM: 601954 GeneReviews: Not available	Compare labs
Hypertrophic cardiomyopathy 25 MedGen: C4225408 OMIM: 607487 GeneReviews: Dilated Cardiomyopathy Overview	Compare labs
Primary dilated cardiomyopathy MedGen: C0007193 GeneReviews: Dilated Cardiomyopathy Overview	Compare labs
Primary familial hypertrophic cardiomyopathy MedGen: C0949658 GeneReviews: Hypertrophic Cardiomyopathy Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66625 (e-PCR)
- UniSTS:71999

RH41770 (e-PCR)
- UniSTS:55459

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables BMP binding	IPI Inferred from Physical Interaction more info	PubMed
enables FATZ binding	IPI Inferred from Physical Interaction more info	PubMed
enables molecular adaptor activity	EXP Inferred from Experiment more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein-macromolecule adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables structural constituent of muscle	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of muscle	IMP Inferred from Mutant Phenotype more info	PubMed
enables titin Z domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables titin binding	IBA Inferred from Biological aspect of Ancestor more info
enables titin binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in adult heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle hypertrophy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle hypertrophy in response to stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle tissue morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cardiac muscle tissue morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac myofibril assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cardiac myofibril assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detection of mechanical stimulus	TAS Traceable Author Statement more info	PubMed
involved_in detection of muscle stretch	IBA Inferred from Biological aspect of Ancestor more info
involved_in detection of muscle stretch	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in otic vesicle formation	IEA Inferred from Electronic Annotation more info
involved_in protein-containing complex assembly	TAS Traceable Author Statement more info	PubMed
involved_in response to muscle stretch	TAS Traceable Author Statement more info	PubMed
involved_in sarcomere organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sarcomere organization	TAS Traceable Author Statement more info	PubMed
involved_in sarcomerogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in sarcomerogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle contraction	IEP Inferred from Expression Pattern more info	PubMed
involved_in skeletal muscle myosin thick filament assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle myosin thick filament assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle thin filament assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle thin filament assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in somitogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in I band	ISS Inferred from Sequence or Structural Similarity more info
is_active_in Z disc	IBA Inferred from Biological aspect of Ancestor more info
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: telethonin

Names: 19 kDa sarcomeric protein; limb girdle muscular dystrophy 2G (autosomal recessive); teneurin C-terminal associated peptide; titin cap protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.