TTN (titin)

2003-11-01  

Identity

HGNC
LOCATION
2q31.2
LOCUSID
ALIAS
CMD1G,CMH9,CMPD4,EOMFC,HMERF,LGMD2J,LGMDR10,MYLK5,SALMY,TMD
FUSION GENES

Other Information

Locus ID:

NCBI: 7273
MIM: 188840
HGNC: 12403
Ensembl: ENSG00000155657

Variants:

dbSNP: 7273
ClinVar: 7273
TCGA: ENSG00000155657
COSMIC: TTN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000155657ENST00000342175A0A0A0MRA3
ENSG00000155657ENST00000342992Q8WZ42
ENSG00000155657ENST00000359218Q8WZ42
ENSG00000155657ENST00000360870Q8WZ42
ENSG00000155657ENST00000412264C9JQJ2
ENSG00000155657ENST00000414766H7C1P9
ENSG00000155657ENST00000425332H7C0U7
ENSG00000155657ENST00000426232H0Y4J7
ENSG00000155657ENST00000436599A0A0C4DG59
ENSG00000155657ENST00000446966A0A1B0GXE3
ENSG00000155657ENST00000448510H7C195
ENSG00000155657ENST00000460472Q8WZ42
ENSG00000155657ENST00000589042A0A0A0MTS7
ENSG00000155657ENST00000591111Q8WZ42
ENSG00000155657ENST00000634225A0A0U1RRH3

Expression (GTEx)

0
50
100
150
200
250
300
350
400

Pathways

PathwaySourceExternal ID
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608
Muscle contractionREACTOMER-HSA-397014
Striated Muscle ContractionREACTOMER-HSA-390522

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
223357392012Truncations of titin causing dilated cardiomyopathy.326
158025642005The kinase domain of titin controls muscle gene expression and protein turnover.186
224667032012RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.170
121985512002Reverse engineering of the giant muscle protein titin.145
263154392015HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.142
152384562004Altered titin expression, myocardial stiffness, and left ventricular function in patients with dilated cardiomyopathy.134
256376292015Myocardial stiffness in patients with heart failure and a preserved ejection fraction: contributions of collagen and titin.129
190231322009Protein kinase G modulates human myocardial passive stiffness by phosphorylation of the titin springs.127
145932052003Calcium-dependent molecular spring elements in the giant protein titin.112
255896322015Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.111

Citation

Dessen P

TTN (titin)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/42726/ttn