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
128407502003Structure of the core domain of human cardiac troponin in the Ca(2+)-saturated form.281
184037582008Shared genetic causes of cardiac hypertrophy in children and adults.100
242912812014Early increases in multiple biomarkers predict subsequent cardiotoxicity in patients with breast cancer treated with doxorubicin, taxanes, and trastuzumab.99
202155912010Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.86
202155912010Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.86
193721852009Developing multiplexed assays for troponin I and interleukin-33 in plasma by peptide immunoaffinity enrichment and targeted mass spectrometry.75
161995422005Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.73
203595942010Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.65
184455792008Unraveling molecular complexity of phosphorylated human cardiac troponin I by top down electron capture dissociation/electron transfer dissociation mass spectrometry.61
200316182009Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.52

Citation

Dessen P

TNNI3 (troponin I3, cardiac type)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

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