TNNI3 (troponin I3, cardiac type)

2008-07-01  

Identity

HGNC
LOCATION
19q13.42
LOCUSID
ALIAS
CMD1FF,CMD2A,CMH7,RCM1,TNNC1,cTnI
FUSION GENES

Other Information

Locus ID:

NCBI: 7137
MIM: 191044
HGNC: 11947
Ensembl: ENSG00000129991

Variants:

dbSNP: 7137
ClinVar: 7137
TCGA: ENSG00000129991
COSMIC: TNNI3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000129991ENST00000344887P19429
ENSG00000129991ENST00000344887Q6FGX2
ENSG00000129991ENST00000586858K7EJP0
ENSG00000129991ENST00000588882K7EN02
ENSG00000129991ENST00000665070A0A590UJN1

Expression (GTEx)

0
500
1000
1500
2000
2500
3000
3500
4000
4500

Pathways

PathwaySourceExternal ID
Cardiac muscle contractionKEGGhsa04260
Cardiac muscle contractionKEGGko04260
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
Muscle contractionREACTOMER-HSA-397014
Striated Muscle ContractionREACTOMER-HSA-390522
Cardiac conductionREACTOMER-HSA-5576891
Ion homeostasisREACTOMER-HSA-5578775

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA162375571ACTC1GeneDataAnnotationassociated
PA231LMNAGeneDataAnnotationassociated
PA28707GLAGeneDataAnnotationassociated
PA31351MYBPC3GeneDataAnnotationassociated
PA31374MYH7GeneDataAnnotationassociated
PA31380MYL2GeneDataAnnotationassociated
PA31381MYL3GeneDataAnnotationassociated
PA33752PRKAG2GeneDataAnnotationassociated
PA36638TNNT2GeneDataAnnotationassociated
PA36690TPM1GeneDataAnnotationassociated
PA443632Cardiomyopathy, DilatedDiseaseDataAnnotationassociated
PA443633Cardiomyopathy, HypertrophicDiseaseDataAnnotationassociated

References

Pubmed IDYearTitleCitations
381935762024Gene correction and overexpression of TNNI3 improve impaired relaxation in engineered heart tissue model of pediatric restrictive cardiomyopathy.0
384974522024Impaired Relaxation in Induced Pluripotent Stem Cell-Derived Cardiomyocytes with Pathogenic TNNI3 Mutation of Pediatric Restrictive Cardiomyopathy.0
386831272024Decreased intranuclear cardiac troponin I impairs cardiac autophagy through FOS/ATG5 in ageing hearts.0
389243802024Homozygous TNNI3 frameshift variant in a consanguineous family with lethal infantile dilated cardiomyopathy.0
381935762024Gene correction and overexpression of TNNI3 improve impaired relaxation in engineered heart tissue model of pediatric restrictive cardiomyopathy.0
384974522024Impaired Relaxation in Induced Pluripotent Stem Cell-Derived Cardiomyocytes with Pathogenic TNNI3 Mutation of Pediatric Restrictive Cardiomyopathy.0
386831272024Decreased intranuclear cardiac troponin I impairs cardiac autophagy through FOS/ATG5 in ageing hearts.0
389243802024Homozygous TNNI3 frameshift variant in a consanguineous family with lethal infantile dilated cardiomyopathy.0
363328982023Galectin-3, Acute Kidney Injury and Myocardial Damage in Patients With Acute Heart Failure.4
363328982023Galectin-3, Acute Kidney Injury and Myocardial Damage in Patients With Acute Heart Failure.4
347027752022N-terminal pro-brain natriuretic peptide is an independent predictor of mortality in patients with sepsis.2
349988582022The ratio of cardiac troponin T to troponin I may indicate non-necrotic troponin release among COVID-19 patients.6
351129712022Clinical implications of cardiac troponin-I in patients with hypertensive crisis visiting the emergency department.12
351497782022Role of a lower cutoff of high sensitivity troponin I in identification of early cardiac damage in non-severe patients with COVID-19.4
353517122022Association of serum cardiac troponin I and severity of coronary stenosis in patients with varied renal functions: a retrospective cohort study.0

Citation

Dessen P

TNNI3 (troponin I3, cardiac type)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50254/tnni3