Identity
HGNC
LOCATION
11p15.5
LOCUSID
ALIAS
DA2B2,TNTF,beta-TnTF
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: 7140
MIM: 600692
HGNC: 11950
Ensembl: ENSG00000130595
Variants:
dbSNP: 7140
ClinVar: 7140
TCGA: ENSG00000130595
COSMIC: TNNT3
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Muscle contraction | REACTOME | R-HSA-397014 |
| Striated Muscle Contraction | REACTOME | R-HSA-390522 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34766372 | 2021 | The distal arthrogryposis-linked p.R63C variant promotes the stability and nuclear accumulation of TNNT3. | 1 |
| 34766372 | 2021 | The distal arthrogryposis-linked p.R63C variant promotes the stability and nuclear accumulation of TNNT3. | 1 |
| 29596868 | 2018 | Troponin T3 associates with DNA consensus sequence that overlaps with p53 binding motifs. | 5 |
| 29596868 | 2018 | Troponin T3 associates with DNA consensus sequence that overlaps with p53 binding motifs. | 5 |
| 26774798 | 2016 | TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure-function relationships. | 93 |
| 26915936 | 2016 | Digitotalar dysmorphism: Molecular elucidation. | 0 |
| 26774798 | 2016 | TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure-function relationships. | 93 |
| 26915936 | 2016 | Digitotalar dysmorphism: Molecular elucidation. | 0 |
| 21402185 | 2011 | A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus. | 14 |
| 21402185 | 2011 | A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus. | 14 |
| 20066428 | 2010 | Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2. | 29 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 20634891 | 2010 | Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. | 28 |
| 20066428 | 2010 | Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2. | 29 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
Citation
Dessen P
TNNT3 (troponin T3, fast skeletal type)
Atlas Genet Cytogenet Oncol Haematol. 2003-05-01
Online version: http://atlasgeneticsoncology.org/gene/42646/tnnt3
