Gene Gene information from NCBI Gene database.
Entrez ID 7137
Gene name Troponin I3, cardiac type
Gene symbol TNNI3
Synonyms (NCBI Gene)
CMD1FFCMD2ACMH7RCM1TNNC1cTnI
Chromosome 19
Chromosome location 19q13.42
Summary Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating stria
SNPs SNP information provided by dbSNP.
64
SNP ID Visualize variation Clinical significance Consequence
rs7252610 C>A,G,T Likely-benign, conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign Intron variant
rs77615401 G>A Benign-likely-benign, likely-benign, risk-factor, benign Coding sequence variant, missense variant
rs104894724 G>A,C Pathogenic Coding sequence variant, missense variant
rs104894725 T>C,G Pathogenic Coding sequence variant, missense variant
rs104894727 C>A,T Likely-pathogenic, pathogenic, uncertain-significance Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
1
miRTarBase ID miRNA Experiments Reference
MIRT020004 hsa-miR-375 Microarray 20215506
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
MEF2A Unknown 10652194
SP1 Unknown 10652194
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46
GO ID Ontology Definition Evidence Reference
GO:0001570 Process Vasculogenesis IEA
GO:0001570 Process Vasculogenesis ISS
GO:0001980 Process Regulation of systemic arterial blood pressure by ischemic conditions IEA
GO:0001980 Process Regulation of systemic arterial blood pressure by ischemic conditions ISS
GO:0003009 Process Skeletal muscle contraction IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
191044 11947 ENSG00000129991
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P19429
Protein name Troponin I, cardiac muscle (Cardiac troponin I)
Protein function Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
PDB 1J1D , 1J1E , 1LXF , 1MXL , 1OZS , 2KGB , 2KRD , 2L1R , 2MZP , 2N7L , 4Y99 , 5VLN , 5W88 , 5WCL , 6KN7 , 6KN8 , 6MV3 , 7JGI , 7SC2 , 7SC3 , 7SUP , 7SVC , 7SWG , 7SWI , 7SXC , 7SXD , 7UH9 , 7UHA , 7UTI , 7UTL , 8DZV , 8FMM , 8FMN , 8FMO , 8FMP , 8FMQ , 8FMR , 8FMS , 8FMT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11636 Troponin-I_N 1 31 Troponin I residues 1-32 Family
PF00992 Troponin 46 177 Troponin Family
Sequence
Sequence length 210
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  cAMP signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Motor proteins
Cytoskeleton in muscle cells
Hypertrophic cardiomyopathy
Dilated cardiomyopathy
Diabetic cardiomyopathy
  Striated Muscle Contraction
Ion homeostasis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1317
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardiomyopathy Likely pathogenic; Pathogenic rs727504243, rs727504285, rs727504242, rs727504275, rs104894724, rs104894727, rs397516347, rs397516349, rs397516353, rs397516354, rs397516355, rs397516357 RCV002470778
RCV003486687
RCV001798495
RCV004786409
RCV003317736
RCV001798003
RCV000777480
RCV001170617
RCV000777481
RCV001178632
RCV001170616
RCV001170614
RCV001170613
RCV000770565
Cardiomyopathy, familial restrictive, 1 Pathogenic; Likely pathogenic rs2147285302, rs727503499, rs727503504, rs1114167340, rs104894727, rs104894728, rs104894729, rs104894730, rs104894724, rs121917760, rs397516347, rs397516349, rs397516354 RCV002246776
RCV004584615
RCV001254049
RCV000490996
RCV002496340
RCV000013236
RCV000013237
RCV000013238
RCV000013239
RCV000013241
RCV002477081
RCV000763057
RCV000477941
Cardiovascular phenotype Likely pathogenic; Pathogenic rs727504243, rs727504285, rs727504242, rs727504275, rs727503503, rs730881091, rs876661394, rs104894724, rs104894727, rs104894729, rs267607128, rs397516347, rs397516349, rs397516353, rs397516354
View all (1 more)
RCV005761966
RCV002354364
RCV002336315
RCV002354362
RCV003343657
RCV002354396
RCV000248954
RCV000251781
RCV002354157
RCV000619328
RCV002354158
RCV002326734
RCV000621089
RCV002336121
RCV000620118
RCV003162313
RCV000620207
Dilated cardiomyopathy 1FF Likely pathogenic; Pathogenic rs2147283171, rs727503499, rs104894727, rs104894724, rs267607130, rs267607129, rs397516347, rs397516349, rs397516354, rs397516355 RCV001530202
RCV003224802
RCV002496340
RCV004795401
RCV000013243
RCV000013244
RCV002477081
RCV000763057
RCV000477941
RCV002468559
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amyloidosis, hereditary systemic 1 Benign; Likely benign rs77615401 RCV000852767
Dilated cardiomyopathy 1A Uncertain significance rs1555864366 RCV002259377
Dilated Cardiomyopathy, Recessive Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance rs77615401, rs557391836, rs763981651, rs186540595, rs886054636, rs73935313, rs370714315, rs3729710 RCV000367372
RCV000400550
RCV000380497
RCV000289057
RCV000299215
RCV000312062
RCV000263491
RCV000373724
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance rs587780967, rs367809676, rs375447438, rs202159627, rs12973773, rs779144176, rs77615401, rs557391836, rs886054635, rs763981651, rs759922995, rs186540595, rs886054636, rs73935313, rs370714315
View all (10 more)
RCV001133663
RCV000340334
RCV000327605
RCV001130829
RCV001130834
RCV001133666
RCV000277490
RCV000334380
RCV000279315
RCV000339880
RCV000392101
RCV000292428
RCV000392028
RCV000275714
RCV000297174
RCV001130709
RCV000374641
RCV001135032
RCV001133539
RCV001129879
RCV001134902
RCV001132495
RCV001134899
RCV001135162
RCV001130129
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 18569954, 19609893, 22642594, 25180409, 31865362
Alopecia Areata Stimulate 29740659
Apical Hypertrophic Cardiomyopathy Associate 24594054
Arrhythmias Cardiac Associate 20359594
Arrhythmogenic Right Ventricular Dysplasia Associate 33947203, 37949661
Atrial Fibrillation Stimulate 20043329
Atrial Fibrillation Associate 20641121, 26169204
Atrioventricular Block Associate 24367055
Barth Syndrome Inhibit 40555742
Blood Platelet Disorders Stimulate 17650080