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TTN titin

Gene ID: 7273, updated on 29-Mar-2023
Gene type: protein coding


This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012]

Associated conditions

See all available tests in GTR for this gene

A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.
GeneReviews: Not available
Autosomal recessive limb-girdle muscular dystrophy type 2J
MedGen: C1837342OMIM: 608807GeneReviews: Not available
See labs
Dilated cardiomyopathy 1GSee labs
Early-onset myopathy with fatal cardiomyopathy
MedGen: C2673677OMIM: 611705GeneReviews: Salih Myopathy
See labs
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
GeneReviews: Not available
Genetic variants associated with breast size also influence breast cancer risk.
GeneReviews: Not available
Hypertrophic cardiomyopathy 9
MedGen: C1861065OMIM: 613765GeneReviews: Not available
See labs
Myopathy, myofibrillar, 9, with early respiratory failureSee labs
Primary dilated cardiomyopathySee labs
Tibial muscular dystrophySee labs

Copy number response

Copy number response

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-08-02)

ClinGen Genome Curation PagePubMed

No evidence available (Last evaluated 2021-08-02)

ClinGen Genome Curation Page

Genomic context

Chromosome: 2; NC_000002.12 (178525989..178807423, complement)
Total number of exons:


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