TNNT2 (troponin T2, cardiac type)

2009-02-01 Affiliation

Identity

HGNC

TNNT2

LOCATION

1q32.1

LOCUSID

7139

ALIAS

CMD1D,CMH2,CMPD2,LVNC6,RCM3,TnTC,cTnT

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: 7139
MIM: 191045
HGNC: 11949
Ensembl: ENSG00000118194

Variants:

dbSNP: 7139
ClinVar: 7139
TCGA: ENSG00000118194
COSMIC: TNNT2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000118194	ENST00000236918	P45379
ENSG00000118194	ENST00000360372	P45379
ENSG00000118194	ENST00000367315	A0A0A0MRJ4
ENSG00000118194	ENST00000367317	A0A0A0MRJ5
ENSG00000118194	ENST00000367318	P45379
ENSG00000118194	ENST00000367320	P45379
ENSG00000118194	ENST00000367322	A0A499FJM7
ENSG00000118194	ENST00000412633	P45379
ENSG00000118194	ENST00000421663	Q7Z554
ENSG00000118194	ENST00000422165	P45379
ENSG00000118194	ENST00000422165	C9JDF8
ENSG00000118194	ENST00000438742	E7EPW4
ENSG00000118194	ENST00000455702	E7EPN8
ENSG00000118194	ENST00000458432	Q7Z554
ENSG00000118194	ENST00000509001	P45379
ENSG00000118194	ENST00000656932	P45379
ENSG00000118194	ENST00000658476	A0A590UK91
ENSG00000118194	ENST00000660295	P45379
ENSG00000118194	ENST00000662159	A0A590UKC2
ENSG00000118194	ENST00000663843	A0A590UJV2
ENSG00000118194	ENST00000666449	A0A590UK21

Expression (GTEx)

500

1000

1500

2000

2500

3000

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
Cardiac muscle contraction	KEGG	hsa04260
Cardiac muscle contraction	KEGG	ko04260
Hypertrophic cardiomyopathy (HCM)	KEGG	ko05410
Hypertrophic cardiomyopathy (HCM)	KEGG	hsa05410
Dilated cardiomyopathy	KEGG	ko05414
Dilated cardiomyopathy	KEGG	hsa05414
Adrenergic signaling in cardiomyocytes	KEGG	hsa04261
Adrenergic signaling in cardiomyocytes	KEGG	ko04261
Muscle contraction	REACTOME	R-HSA-397014
Striated Muscle Contraction	REACTOME	R-HSA-390522

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association
PA162375571	ACTC1	Gene	DataAnnotation	associated
PA231	LMNA	Gene	DataAnnotation	associated
PA28707	GLA	Gene	DataAnnotation	associated
PA31351	MYBPC3	Gene	DataAnnotation	associated
PA31374	MYH7	Gene	DataAnnotation	associated
PA31380	MYL2	Gene	DataAnnotation	associated
PA31381	MYL3	Gene	DataAnnotation	associated
PA33752	PRKAG2	Gene	DataAnnotation	associated
PA36636	TNNI3	Gene	DataAnnotation	associated
PA36690	TPM1	Gene	DataAnnotation	associated
PA443632	Cardiomyopathy, Dilated	Disease	DataAnnotation	associated
PA443633	Cardiomyopathy, Hypertrophic	Disease	DataAnnotation	associated

References

Pubmed ID	Year	Title	Citations
37252999	2023	Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function.	4
37252999	2023	Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function.	4
33884582	2022	Isogenic human pluripotent stem cell disease models reveal ABRA deficiency underlies cTnT mutation-induced familial dilated cardiomyopathy.	6
34686997	2022	Evaluation of Cardiac Troponin and Adverse Outcomes After Aneurysmal Subarachnoid Hemorrhage: A Systematic Review and Meta-Analysis.	2
34998858	2022	The ratio of cardiac troponin T to troponin I may indicate non-necrotic troponin release among COVID-19 patients.	6
35067102	2022	Allele-specific silencing by RNAi of R92Q and R173W mutations in cardiac troponin T.	0
35926901	2022	Coronary Atherosclerosis, Cardiac Troponin, and Interleukin-6 in Patients With Chest Pain: The PROMISE Trial Results.	12
36318533	2022	Diagnostic and prognostic performance of the ratio between high-sensitivity cardiac troponin I and troponin T in patients with chest pain.	1
36368163	2022	Cardiac troponin T as a postmortem biomarker for acute myocardial infarction.	1
36613463	2022	De Novo Asp219Val Mutation in Cardiac Tropomyosin Associated with Hypertrophic Cardiomyopathy.	5
33884582	2022	Isogenic human pluripotent stem cell disease models reveal ABRA deficiency underlies cTnT mutation-induced familial dilated cardiomyopathy.	6
34686997	2022	Evaluation of Cardiac Troponin and Adverse Outcomes After Aneurysmal Subarachnoid Hemorrhage: A Systematic Review and Meta-Analysis.	2
34998858	2022	The ratio of cardiac troponin T to troponin I may indicate non-necrotic troponin release among COVID-19 patients.	6
35067102	2022	Allele-specific silencing by RNAi of R92Q and R173W mutations in cardiac troponin T.	0
35926901	2022	Coronary Atherosclerosis, Cardiac Troponin, and Interleukin-6 in Patients With Chest Pain: The PROMISE Trial Results.	12

Citation

Dessen P

TNNT2 (troponin T2, cardiac type)

Atlas Genet Cytogenet Oncol Haematol. 2009-02-01

Online version: http://atlasgeneticsoncology.org/gene/50664/teaching-explorer/deep-insight-explorer/favicon/manifest.json