TNNT1 (troponin T1, slow skeletal type)

2018-11-01  

Identity

HGNC
TNNT1
LOCATION
19q13.42
LOCUSID
7138
ALIAS
ANM,NEM5,STNT,TNT,TNTS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7138
MIM: 191041
HGNC: 11948
Ensembl: ENSG00000105048

Variants:

dbSNP: 7138
ClinVar: 7138
TCGA: ENSG00000105048
COSMIC: TNNT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105048ENST00000291901P13805
ENSG00000105048ENST00000356783P13805
ENSG00000105048ENST00000536926Q3B759
ENSG00000105048ENST00000585321Q3B759
ENSG00000105048ENST00000586649M0QY38
ENSG00000105048ENST00000587089K7EKB5
ENSG00000105048ENST00000587465Q3B759
ENSG00000105048ENST00000587758P13805
ENSG00000105048ENST00000588147M0QX01
ENSG00000105048ENST00000588426K7ELB0
ENSG00000105048ENST00000588981P13805
ENSG00000105048ENST00000589226M0QZY5
ENSG00000105048ENST00000589745K7EKM3
ENSG00000105048ENST00000593046M0QZU8
ENSG00000105048ENST00000593194K7EQL4

Expression (GTEx)

0
500
1000
1500
2000
2500
3000
3500
4000
4500
5000
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Muscle contractionREACTOMER-HSA-397014
Striated Muscle ContractionREACTOMER-HSA-390522

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
388534572024Troponin T1 in tumorigenesis and immune modulation: Insights into multiple cancers and kidney renal clear cell carcinoma.1
388534572024Troponin T1 in tumorigenesis and immune modulation: Insights into multiple cancers and kidney renal clear cell carcinoma.1
368716742023Slow skeletal muscle troponin T acts as a potential prognostic biomarker and therapeutic target for hepatocellular carcinoma.1
376321332023WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.0
368716742023Slow skeletal muscle troponin T acts as a potential prognostic biomarker and therapeutic target for hepatocellular carcinoma.1
376321332023WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.0
350533262022Biomarkers-in-Cardiology 8 RE-VISITED-Consistent Safety of Early Discharge with a Dual Marker Strategy Combining a Normal hs-cTnT with a Normal Copeptin in Low-to-Intermediate Risk Patients with Suspected Acute Coronary Syndrome-A Secondary Analysis of the Randomized Biomarkers-in-Cardiology 8 Trial.1
351650042022TNNT1 myopathy with novel compound heterozygous mutations.3
350533262022Biomarkers-in-Cardiology 8 RE-VISITED-Consistent Safety of Early Discharge with a Dual Marker Strategy Combining a Normal hs-cTnT with a Normal Copeptin in Low-to-Intermediate Risk Patients with Suspected Acute Coronary Syndrome-A Secondary Analysis of the Randomized Biomarkers-in-Cardiology 8 Trial.1
351650042022TNNT1 myopathy with novel compound heterozygous mutations.3
329942792021Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.6
329942792021Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.6
315125532020TNNT1, a prognostic indicator in colon adenocarcinoma, regulates cell behaviors and mediates EMT process.13
318303372020TNNT1, negatively regulated by miR-873, promotes the progression of colorectal cancer.17
319708032020Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians.4

Citation

Dessen P

TNNT1 (troponin T1, slow skeletal type)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57640/tnnt1-(troponin-t1-slow-skeletal-type)