Basic Information

Symbol
TTN
RNA class
mRNA
Alias
Titin LGMD2J CMPD4 MYLK5 CMH9 TMD Rhabdomyosarcoma Antigen MU-RMS-40.14 Connectin FLJ32040 CMD1G Cardiomyopathy, Dilated 1G (Autosomal Dominant) EC 2.7.11.1 LGMDR10 CMYO5 CMYP5 EOMFC HMERF SALMY
Location (GRCh38)
2:178525989-178830802
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_001267550.2
Sequence length
109224.0 nt
GC content
0.4407

Transcripts

ID Sequence Length GC content
NM_001256850.1 NCBI
GAGCAGUCGUGCAUUCCCAGCCUCGCCUCGGGUGUAGGGAUUGCAUAGA… 104301 nt 0.4395
NM_001267550.2 NCBI
GAGCAGUCGUGCAUUCCCAGCCUCGCCUCGGGUGUAGGGAUUGCAUAGA… 109224 nt 0.4407
NM_003319.4 NCBI
GAGCAGUCGUGCAUUCCCAGCCUCGCCUCGGGUGUAGGGAUUGCAUAGA… 82029 nt 0.4395
NM_133378.4 NCBI
GAGCAGUCGUGCAUUCCCAGCCUCGCCUCGGGUGUAGGGAUUGCAUAGA… 101520 nt 0.4398
NM_133379.5 NCBI
GAGCAGUCGUGCAUUCCCAGCCUCGCCUCGGGUGUAGGGAUUGCAUAGA… 18220 nt 0.4171
NM_133432.3 NCBI
GAGCAGUCGUGCAUUCCCAGCCUCGCCUCGGGUGUAGGGAUUGCAUAGA… 82404 nt 0.4396
NM_133437.4 NCBI
GAGCAGUCGUGCAUUCCCAGCCUCGCCUCGGGUGUAGGGAUUGCAUAGA… 82605 nt 0.4394
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]

Forensic Context

No relevant information is available at the moment.