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)

178525989 - 178830802

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000155657 (version 78.38)

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
 
TTN-203
 
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PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

TTN-002 ENSP00000343764
ENST00000342992
Q8WZ42
Show all »
Show » Show » 33423 3713.5 No 0
TTN-003 ENSP00000434586
ENST00000460472
Q8WZ42
Show all »
Show » Show » 26926 2992.9 No 1
TTN-004 ENSP00000405517
ENST00000436599
Q8WZ42
Show all »
Show » Show » 213 23.2 No 0
TTN-005 ENSP00000401501
ENST00000414766
H7C1P9
Show all »
Show » 962 109.2 No 0
TTN-006 ENSP00000396805
ENST00000425332
Show » 241 26.7 No 0
TTN-007 ENSP00000392336
ENST00000426232
A2TKE3
Show all »
Show » 256 28.2 No 0
TTN-008 ENSP00000408004
ENST00000446966
A2TKE4
Show all »
Show » 373 41.5 No 0
TTN-009 ENSP00000394672
ENST00000412264
C9JQJ2
Show all »
Show » Show » 49 5.3 No 0
TTN-010 ENSP00000354117
ENST00000360870
Q8WZ42
Show all »
Show » Show » 5604 631.6 No 0
TTN-011 ENSP00000399176
ENST00000448510
Show » 173 20 No 0
TTN-018 ENSP00000467141
ENST00000589042
A2TKE6
Show all »
Show » Show » 35991 3994.6 No 0
TTN-019 ENSP00000465570
ENST00000591111
Q8WZ42
Show all »
Show » Show » 34350 3816 No 0
TTN-201 ENSP00000340554
ENST00000342175
C9JQJ2
Show all »
Show » Show » 27118 3013.9 No 1
TTN-202 ENSP00000352154
ENST00000359218
Q8WZ42
Show all »
Show » Show » 27051 3006.7 No 0
TTN-203 ENSP00000483597
ENST00000615779
Q8WZ42
Show all »
Show » Show » 34350 3816 No 0