Identity
HGNC
LOCATION
2q31.2
LOCUSID
ALIAS
CMD1G,CMH9,CMPD4,EOMFC,HMERF,LGMD2J,LGMDR10,MYLK5,SALMY,TMD
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 7273
MIM: 188840
HGNC: 12403
Ensembl: ENSG00000155657
Variants:
dbSNP: 7273
ClinVar: 7273
TCGA: ENSG00000155657
COSMIC: TTN
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37221934 | 2024 | Severe cardiac conduction disease associated with titin gene mutation. | 0 |
| 37230314 | 2024 | Left Atrial Function in Patients with Titin Cardiomyopathy. | 1 |
| 37935568 | 2024 | Titin copy number variations associated with dominant inherited phenotypes. | 0 |
| 37962957 | 2024 | Truncated titin is structurally integrated into the human dilated cardiomyopathic sarcomere. | 2 |
| 37999665 | 2024 | Skeletal Muscle Involvement in Patients With Truncations of Titin and Familial Dilated Cardiomyopathy. | 0 |
| 38148006 | 2024 | Biallelic truncating TTN variants in M-band encoding exons cause a fetal lethal titinopathy. | 0 |
| 38155593 | 2024 | Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin. | 0 |
| 38203744 | 2024 | The Utility of Urinary Titin to Diagnose and Predict the Prognosis of Acute Myocardial Infarction. | 0 |
| 38226618 | 2024 | TTN truncation variants produce sarcomere-integrating proteins of uncertain functional significance. | 1 |
| 38381767 | 2024 | The TTN p. Tyr4418Ter mutation causes cardiomyopathy in human and mice. | 0 |
| 38429495 | 2024 | Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. | 2 |
| 38430701 | 2024 | Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene. | 0 |
| 38666471 | 2024 | TTN Mutation in Endometrial Endometrioid Carcinoma Is Associated with Poor Clinical Outcomes and High Tumor Mutation Burden. | 0 |
| 38937733 | 2024 | Identification of four TTN variants in three families with fetal akinesia deformation sequence. | 0 |
| 37221934 | 2024 | Severe cardiac conduction disease associated with titin gene mutation. | 0 |
Citation
Dessen P
TTN (titin)
Atlas Genet Cytogenet Oncol Haematol. 2003-11-01
Online version: http://atlasgeneticsoncology.org/gene/42726/ttn-(titin)
