TNNT1 (troponin T1, slow skeletal type)

2018-11-01 Affiliation

Identity

HGNC

TNNT1

LOCATION

19q13.42

LOCUSID

7138

ALIAS

ANM,NEM5,STNT,TNT,TNTS

FUSION GENES

Show Gene Fusions

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: 7138
MIM: 191041
HGNC: 11948
Ensembl: ENSG00000105048

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000105048	ENST00000291901	P13805
ENSG00000105048	ENST00000356783	P13805
ENSG00000105048	ENST00000536926	Q3B759
ENSG00000105048	ENST00000585321	Q3B759
ENSG00000105048	ENST00000586649	M0QY38
ENSG00000105048	ENST00000587089	K7EKB5
ENSG00000105048	ENST00000587465	Q3B759
ENSG00000105048	ENST00000587758	P13805
ENSG00000105048	ENST00000588147	M0QX01
ENSG00000105048	ENST00000588426	K7ELB0
ENSG00000105048	ENST00000588981	P13805
ENSG00000105048	ENST00000589226	M0QZY5
ENSG00000105048	ENST00000589745	K7EKM3
ENSG00000105048	ENST00000593046	M0QZU8
ENSG00000105048	ENST00000593194	K7EQL4

Expression (GTEx)

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

Pathway	Source	External ID
Muscle contraction	REACTOME	R-HSA-397014
Striated Muscle Contraction	REACTOME	R-HSA-390522

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
26774798	2016	TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure-function relationships.	31
15665378	2005	Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy.	20
21111984	2010	Serum levels of high-sensitivity troponin T: a novel marker for cardiac remodeling in hypertrophic cardiomyopathy.	19
23244308	2012	Epigenome-wide analysis in familial hypercholesterolemia identified new loci associated with high-density lipoprotein cholesterol concentration.	15
21784424	2011	Arterial stiffness is associated with minimally elevated high-sensitivity cardiac, troponin T levels in a community-dwelling population.	12
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.	11
26296490	2016	Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1).	11
18579801	2008	Adaptation by alternative RNA splicing of slow troponin T isoforms in type 1 but not type 2 Charcot-Marie-Tooth disease.	10
22239123	2012	Cardiac troponin T levels and exercise stress testing in patients with suspected coronary artery disease: the Akershus Cardiac Examination (ACE) 1 study.	10

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