Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7137
Gene name Gene Name - the full gene name approved by the HGNC.	Troponin I3, cardiac type
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TNNI3
Synonyms (NCBI Gene) Gene synonyms aliases	CMD1FF, CMD2A, CMH7, RCM1, TNNC1, cTnI
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19q13.42
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(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
rs104894728	T>C	Pathogenic	Coding sequence variant, missense variant
rs104894729	C>A,G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104894730	T>C	Pathogenic	Coding sequence variant, missense variant
rs121917760	A>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121917761	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs193922409	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267607127	C>T	Pathogenic	Missense variant, coding sequence variant
rs267607128	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267607129	G>C	Pathogenic	Missense variant, coding sequence variant
rs267607130	T>G	Pathogenic	Missense variant, coding sequence variant
rs368861241	G>A	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs377258542	G>C,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs397516340	C>A	Likely-pathogenic	Splice acceptor variant
rs397516347	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs397516348	G>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs397516349	C>T	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397516351	TTC>-	Pathogenic	Inframe deletion, coding sequence variant
rs397516352	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs397516353	G>A	Pathogenic	Coding sequence variant, missense variant
rs397516354	C>A,G,T	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397516355	C>A,T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant
rs397516356	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs397516357	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397516358	C>A,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs727503499	G>A	Pathogenic	Coding sequence variant, missense variant
rs727503500	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs727503501	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs727503503	C>T	Pathogenic	Coding sequence variant, missense variant
rs727503504	G>A,C,T	Likely-pathogenic, uncertain-significance, pathogenic	Synonymous variant, coding sequence variant, missense variant
rs727503506	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs727504242	G>A	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs727504243	G>A,T	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs727504275	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504285	G>A,C	Likely-pathogenic, uncertain-significance	Synonymous variant, coding sequence variant, missense variant
rs727504365	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880231	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs730881066	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs730881069	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs730881071	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730881072	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730881075	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730881076	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730881077	T>C	Pathogenic	Coding sequence variant, missense variant
rs730881078	T>G	Pathogenic	Coding sequence variant, missense variant
rs730881079	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730881081	T>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730881082	T>A	Pathogenic	Coding sequence variant, missense variant
rs730881085	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730881087	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730881090	G>A,C	Likely-pathogenic	Synonymous variant, coding sequence variant, missense variant
rs730881091	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs772607683	->T	Pathogenic	Coding sequence variant, frameshift variant
rs777702465	A>T	Pathogenic	Splice donor variant
rs876661394	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs1057521530	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs1085308019	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1114167340	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1568858210	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1599907512	->A	Uncertain-significance, likely-pathogenic	Coding sequence variant, stop gained

Show/Hide all(1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020004	hsa-miR-375	Microarray	20215506

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
MEF2A	Unknown	10652194
SP1	Unknown	10652194

Show/Hide all(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
GO:0003779	Function	Actin binding	IDA	10806205
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	10806205, 12525172, 12721663, 12809519, 12840750, 16516408, 18986304, 21569246, 23369981, 25910212, 28514442, 29997244, 32296183, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005861	Component	Troponin complex	IBA
GO:0005861	Component	Troponin complex	IDA	7957210, 10806205, 10850966, 12093807
GO:0005861	Component	Troponin complex	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	ISS
GO:0006937	Process	Regulation of muscle contraction	IEA
GO:0006940	Process	Regulation of smooth muscle contraction	IEA
GO:0006941	Process	Striated muscle contraction	IEA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISS
GO:0010882	Process	Regulation of cardiac muscle contraction by calcium ion signaling	IMP	25771144
GO:0019855	Function	Calcium channel inhibitor activity	IPI	12809519
GO:0019901	Function	Protein kinase binding	IPI	12721663
GO:0019904	Function	Protein domain specific binding	IPI	11984006
GO:0030016	Component	Myofibril	IEA
GO:0030017	Component	Sarcomere	IEA
GO:0030017	Component	Sarcomere	NAS	12840750
GO:0030017	Component	Sarcomere	TAS	16754800
GO:0030049	Process	Muscle filament sliding	NAS	12840750
GO:0030172	Function	Troponin C binding	IPI	7957210, 11735257, 15542288
GO:0031014	Function	Troponin T binding	IPI	15542288
GO:0032780	Process	Negative regulation of ATP-dependent activity	IDA	7957210, 11735257
GO:0032780	Process	Negative regulation of ATP-dependent activity	IMP	10806205
GO:0043292	Component	Contractile muscle fiber	IEA
GO:0048306	Function	Calcium-dependent protein binding	IPI	7957210
GO:0051015	Function	Actin filament binding	IPI	25771144
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IMP	11815426, 16754800
GO:0060047	Process	Heart contraction	IMP	12531876
GO:0060048	Process	Cardiac muscle contraction	IBA
GO:0060048	Process	Cardiac muscle contraction	IEA
GO:0060048	Process	Cardiac muscle contraction	IMP	11735257
GO:0060048	Process	Cardiac muscle contraction	NAS	12840750
GO:0097512	Component	Cardiac myofibril	IMP	25771144
GO:1990584	Component	Cardiac Troponin complex	IEA
GO:1990584	Component	Cardiac Troponin complex	IMP	25771144
GO:1990584	Component	Cardiac Troponin complex	IPI	12840750

MIM	HGNC	e!Ensembl
191044	11947	ENSG00000129991

Protein

UniProt ID

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

MADGSSDAAREPRPAPAPIRRRSSNYRAYATEPHAKKKSKISASRKLQLKTLLLQIAKQE
LEREAEERRGEKGRALSTRCQPLELAGLGFAELQDLCRQLHARVDKVDEERYDIEAKVTK
NITEIADLTQKIFDLRGKFKRPTLRRVRISADAMMQALLGARAKESLDLRAHLKQVKKED
TEKENREVGDWRKNIDALSGMEGRKKKFES

Sequence length

210

Interactions

View interactions

Show/Hide Causal Diseases (6)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
cardiomyopathy	Cardiomyopathy	rs397516347, rs104894727, rs727504243, rs397516355, rs397516349, rs727504285, rs727504242, rs104894724, rs727504275, rs397516353, rs397516357	N/A
Cardiomyopathy	Cardiomyopathy, familial restrictive, 1, Primary dilated cardiomyopathy	rs104894724, rs727503499, rs121917760, rs397516355, rs104894728, rs727503504, rs1114167340, rs104894729, rs397516352, rs397516356, rs777702465, rs104894730	N/A
Dilated Cardiomyopathy	Dilated cardiomyopathy 1FF	rs267607130, rs267607129, rs397516355	N/A
Hypertrophic cardiomyopathy	hypertrophic cardiomyopathy	rs727503500, rs727503503, rs397516354, rs104894727, rs727504243, rs121917760, rs397516349, rs727503504, rs727504285, rs730881091, rs727504242, rs1245885836, rs397516355, rs397516353, rs1568858210 View all (9 more)	N/A
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy 7, Primary familial hypertrophic cardiomyopathy	rs727503499, rs397516354, rs104894727, rs397516357, rs397516347, rs730881091, rs397516349, rs104894728, rs267607127, rs727504285, rs727504242, rs2147283135, rs104894724, rs104894729, rs267607128 View all (4 more)	N/A
Restrictive cardiomyopathy	restrictive cardiomyopathy	rs727503504, rs730880231, rs104894729, rs727503499	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Long QT Syndrome	long qt syndrome	N/A	N/A	ClinVar
Ventricular Cardiomyopathy	arrhythmogenic right ventricular cardiomyopathy	N/A	N/A	GenCC

Show/Hide Text Mining Associations (81)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Brain Ischemia	Inhibit	21959857
Brugada Syndrome	Associate	16020591
Carcinoma Non Small Cell Lung	Associate	24817928
Carcinoma Squamous Cell	Associate	24817928
Cardiomyopathies	Associate	20043329, 20124440, 22194935, 26212819, 28359509, 28719430, 28815794, 32885985, 34502534, 35544052, 35705319, 36252119, 37949661
Cardiomyopathy Dilated	Associate	23923004, 26458567, 28436080, 29093449, 30070845, 30150400, 30395933, 33901537, 33947203, 34213952, 37457373
Cardiomyopathy Familial Hypertrophic 1	Associate	22876777
Cardiomyopathy Familial Restrictive 1	Associate	29176140
Cardiomyopathy Hypertrophic	Associate	10806205, 12109867, 15607392, 16020591, 16199542, 20043329, 20359594, 20641121, 21896538, 22429680, 22857948, 22876777, 23396983, 23924931, 24020864 View all (23 more)
Cardiomyopathy Hypertrophic Familial	Associate	10806205, 22112859, 22857948, 25940119, 26199943, 28498465
Cardiomyopathy Restrictive	Associate	12531876, 25940119, 27557662, 29176140, 30953456, 34502534, 35614389, 37646638, 38193576
Cardiotoxicity	Associate	28094846
Cardiovascular Diseases	Associate	31014085, 37708555
Cerebral Hemorrhage	Associate	31851767
Chest Pain	Associate	22642594
Ciuffo Syndrome	Associate	15607392
Congenital Methemoglobinemia	Stimulate	36837579
Coronary Artery Disease	Associate	32757795
Coronary Disease	Associate	31014085
Coronary Vessel Anomalies	Associate	22704287
Cyanosis	Stimulate	36837579
Death	Associate	20641121, 25405803, 31995186
Death	Stimulate	30895632
Death Sudden	Associate	25606687
Death Sudden Cardiac	Associate	12109867, 22876777, 32885985, 37787257
Diabetes Mellitus	Associate	23270513
Diastrophic dysplasia	Stimulate	23199721
Disease	Associate	26741492
Fabry Disease	Associate	27322070
Fabry Disease	Stimulate	30754056
familial dilated cardiomyopathy	Associate	20215591, 26199943
Genetic Diseases Inborn	Associate	32917333
Glaucoma Related Pigment Dispersion Syndrome	Associate	12109867
Heart Arrest	Associate	15607392
Heart Defects Congenital	Associate	24899611
Heart Diseases	Associate	15607392, 23924931, 25771144, 27322070, 27557662, 37005753
Heart Failure	Associate	21751783, 24814372, 24899611, 26199943, 28359509, 31014085, 36074967
Heart Failure	Stimulate	30895632
Hereditary Breast and Ovarian Cancer Syndrome	Associate	35893033
Hypertension Pulmonary	Associate	39542781
Hypertrophy	Associate	32815737
Hypertrophy Left Ventricular	Associate	16020591
Hypertrophy Left Ventricular	Stimulate	27322070
Hypoxia Brain	Associate	34685725
Infarction	Associate	32457432
Isolated Noncompaction of the Ventricular Myocardium	Associate	34502534
MASS syndrome	Associate	22704287
Mitochondrial Diseases	Inhibit	23924931
Mitochondrial Diseases	Associate	26741492
Muscle Hypotonia	Associate	30395933
Muscular Diseases	Associate	27803423, 37457373
Myocardial Infarction	Associate	21330421, 25405803, 29691270, 31014085, 34685725, 35389756, 37203392, 39395935
Myocardial Infarction	Stimulate	28338188, 37708555
Myocardial Stunning	Associate	26919894
NADH cytochrome B5 reductase deficiency	Stimulate	36837579
Nemaline myopathy 5	Associate	30395933
Neoplasms	Associate	24817928
Obesity	Associate	23408508
Paroxysmal ventricular fibrillation	Associate	37949661
Pericarditis Constrictive	Associate	35614389
Pneumonia	Associate	24899611
Renal Insufficiency	Associate	25405803
ST Elevation Myocardial Infarction	Associate	21356205
Stroke	Associate	20641121
Systemic carnitine deficiency	Associate	12109867
Tachycardia	Associate	30895632
Ventricular Dysfunction Left	Associate	20043329, 32885985
Ventricular Fibrillation	Associate	12109867
Virus Diseases	Associate	27997912
Weight Loss	Associate	23475851
Wounds and Injuries	Associate	29691270

TNNI3 (troponin I3, cardiac type)