TTN

GENE INFORMATION

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Gene name

TTN (HGNC Symbol)

Synonyms

CMD1G, CMH9, CMPD4, FLJ32040, LGMD2J, MYLK5, TMD

Description

Titin (HGNC Symbol)

Entrez gene summary

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]

Chromosome

2

Cytoband

q31.2

Chromosome location (bp)

179390716 - 179695529

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000155657 (version 75.37)

Entrez gene

7273

UniProt

Q8WZ42 (UniProt - Evidence at protein level)

neXtProt

NX_Q8WZ42

Antibodypedia

TTN antibodies
 

PROTEIN VIEW

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TTN-002
 
TTN-003
 
TTN-004
 
TTN-005
 
TTN-006
 
TTN-007
 
TTN-008
 
TTN-009
 
TTN-010
 
TTN-011
 
TTN-018
 
TTN-019
 
TTN-201
 
TTN-202
 
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