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

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7139
Gene name Gene Name - the full gene name approved by the HGNC.	Troponin T2, cardiac type
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TNNT2
Synonyms (NCBI Gene) Gene synonyms aliases	CMD1D, CMH2, CMPD2, LVNC6, RCM3, TnTC, cTnT
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q32.1
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration.

Show/Hide all(89)

SNP ID	Visualize variation	Clinical significance	Consequence
rs45466197	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs45501500	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs45520032	A>G	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs45525839	G>A,C,T	Likely-pathogenic, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant, missense variant
rs45578238	CTT>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, inframe deletion
rs45586240	G>A,T	Likely-pathogenic, uncertain-significance, likely-benign, pathogenic	Coding sequence variant, synonymous variant, missense variant
rs74315379	G>A,T	Likely-benign, benign, pathogenic	Missense variant, coding sequence variant, synonymous variant
rs74315380	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs111344408	C>A,G	Likely-pathogenic, uncertain-significance	Splice acceptor variant
rs111377893	C>A,G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs111692981	T>A,C,G	Uncertain-significance, pathogenic	Splice acceptor variant
rs113051005	C>A,G,T	Likely-pathogenic	Splice donor variant
rs113471285	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs113984578	A>C,T	Likely-pathogenic	Splice donor variant
rs121964855	A>T	Pathogenic	Missense variant, coding sequence variant
rs121964856	C>A,T	Likely-pathogenic, pathogenic	Missense variant, intron variant, coding sequence variant
rs121964857	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121964858	A>C,G,T	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, intron variant, coding sequence variant
rs121964860	C>A,G,T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121964861	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs141121678	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs141805127	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs141837529	T>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, initiator codon variant
rs193922620	C>G,T	Uncertain-significance, likely-pathogenic	Intron variant
rs200754249	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, pathogenic, benign-likely-benign	Missense variant, coding sequence variant, 5 prime UTR variant
rs201753429	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs369181536	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs370729174	T>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant, 5 prime UTR variant
rs376923877	G>A,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, missense variant
rs397516451	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516452	C>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516454	A>C,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516455	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs397516456	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant, intron variant
rs397516457	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs397516459	C>A,T	Pathogenic, likely-pathogenic, uncertain-significance	Synonymous variant, coding sequence variant, missense variant, intron variant
rs397516461	C>T	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs397516463	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs397516464	C>G,T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516465	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516466	C>T	Pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516470	CTC>-	Pathogenic	Coding sequence variant, inframe deletion
rs397516471	C>A,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs397516480	AAG>-	Conflicting-interpretations-of-pathogenicity	Intron variant
rs397516482	T>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516484	C>G,T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs483352832	G>A	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs727503512	G>A,C,T	Uncertain-significance, pathogenic	Synonymous variant, coding sequence variant, missense variant
rs727503513	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, intron variant
rs727504244	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs727504245	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs727504246	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504247	C>A,T	Uncertain-significance, likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant
rs727504255	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504277	TCC>-	Likely-pathogenic	Coding sequence variant, inframe deletion, intron variant
rs727504331	A>C,G	Likely-pathogenic, pathogenic	Synonymous variant, coding sequence variant, missense variant, intron variant
rs727504488	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs727505233	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730881096	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730881097	C>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730881099	C>A,T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant, intron variant
rs730881100	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730881101	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730881102	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730881104	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730881109	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730881112	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730881113	C>G,T	Uncertain-significance, likely-pathogenic	Intron variant
rs730881114	C>A	Pathogenic	Splice acceptor variant
rs730881115	G>-	Uncertain-significance, likely-pathogenic	Coding sequence variant, frameshift variant
rs730881116	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs730881119	->G	Pathogenic	Coding sequence variant, frameshift variant
rs730881121	G>A	Pathogenic	Coding sequence variant, missense variant
rs730881122	T>G	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs730881125	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs748970759	G>A,T	Uncertain-significance, likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs780087395	->C	Pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs863225119	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs863225120	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs869312881	C>T	Pathogenic	Missense variant, coding sequence variant, intron variant
rs876658027	GA>AC	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1085307889	C>T	Likely-pathogenic	Splice acceptor variant
rs1228403814	T>C	Likely-pathogenic	5 prime UTR variant, initiator codon variant, missense variant
rs1289914935	C>A,T	Likely-pathogenic	5 prime UTR variant, initiator codon variant, missense variant
rs1553279294	T>C	Pathogenic	Coding sequence variant, missense variant
rs1558225569	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1571608729	C>-	Likely-pathogenic	Splice donor variant, coding sequence variant, intron variant
rs1571627006	C>G	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1571627587	TCATTC>-	Pathogenic	Coding sequence variant, inframe deletion, intron variant

Show/Hide all(1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018337	hsa-miR-335-5p	Microarray	18185580

Show/Hide all(37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IDA	2530435, 12093807
GO:0003779	Function	Actin binding	IDA	8205619
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005523	Function	Tropomyosin binding	IBA
GO:0005523	Function	Tropomyosin binding	IDA	10850966
GO:0005523	Function	Tropomyosin binding	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005861	Component	Troponin complex	IBA
GO:0005861	Component	Troponin complex	IDA	2530435, 12093807, 12186860
GO:0005861	Component	Troponin complex	IEA
GO:0005865	Component	Striated muscle thin filament	IDA	12186860
GO:0006937	Process	Regulation of muscle contraction	IEA
GO:0006941	Process	Striated muscle contraction	IEA
GO:0008016	Process	Regulation of heart contraction	IMP	15542288
GO:0030017	Component	Sarcomere	NAS	12840750
GO:0030017	Component	Sarcomere	TAS	16754800
GO:0030049	Process	Muscle filament sliding	IDA	12186860, 15923195
GO:0030049	Process	Muscle filament sliding	NAS	12840750
GO:0030172	Function	Troponin C binding	IBA
GO:0030172	Function	Troponin C binding	IEA
GO:0030172	Function	Troponin C binding	IPI	8205619, 15542288
GO:0031013	Function	Troponin I binding	IBA
GO:0031013	Function	Troponin I binding	IEA
GO:0031013	Function	Troponin I binding	IPI	15542288
GO:0032780	Process	Negative regulation of ATP-dependent activity	IDA	10850966, 12093807
GO:0032781	Process	Positive regulation of ATP-dependent activity	IDA	10850966, 12186860
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0045214	Process	Sarcomere organization	IBA
GO:0051592	Process	Response to calcium ion	IDA	2530435
GO:0051592	Process	Response to calcium ion	IMP	8205619
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IMP	16754800
GO:0060048	Process	Cardiac muscle contraction	IBA
GO:0060048	Process	Cardiac muscle contraction	IDA	25771144
GO:0060048	Process	Cardiac muscle contraction	NAS	12840750
GO:0097512	Component	Cardiac myofibril	IDA	25771144
GO:1990584	Component	Cardiac Troponin complex	IDA	25771144
GO:1990584	Component	Cardiac Troponin complex	IPI	12840750

MIM	HGNC	e!Ensembl
191045	11949	ENSG00000118194

Protein

UniProt ID

P45379

Protein name

Troponin T, cardiac muscle (TnTc) (Cardiac muscle troponin T) (cTnT)

Protein function

Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.

PDB

1J1D , 1J1E , 4Y99 , 6KN7 , 6KN8 , 7UTI , 7UTL , 8FMM , 8FMN , 8FMO , 8FMP , 8FMQ , 8FMR , 8FMS , 8FMT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00992	Troponin	103 → 241	Troponin	Family
PF00992	Troponin	235 → 295	Troponin	Family

Tissue specificity

TISSUE SPECIFICITY: Heart. The fetal heart shows a greater expression in the atrium than in the ventricle, while the adult heart shows a greater expression in the ventricle than in the atrium. Isoform 6 predominates in normal adult heart. Isoforms 1, 7 an

Sequence

MSDIEEVVEEYEEEEQEEAAVEEEEDWREDEDEQEEAAEEDAEAEAETEETRAEEDEEEE
EAKEAEDGPMEESKPKPRSFMPNLVPPKIPDGERVDFDDIHRKRMEKDLNELQALIEAHF
ENRKKEEEELVSLKDRIERRRAERAEQQRIRNEREKERQNRLAEERARREEEENRRKAED
EARKKKALSNMMHFGGYIQKQAQTERKSGKRQTEREKKKKILAERRKVLAIDHLNEDQLR
EKAKELWQSIYNLEAEKFDLQEKFKQQKYEINVLRNRINDNQKVSKTRGKAKVTGRWK

Sequence length

298

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	rs397516463, rs397516456, rs111377893, rs730881119, rs727504247, rs121964858, rs45578238	N/A
Cardiomyopathy	Primary dilated cardiomyopathy, Primary familial dilated cardiomyopathy	rs397516461, rs45525839, rs397516454, rs74315379, rs1571627006, rs74315380, rs397516464, rs397516471, rs727503512, rs45578238, rs876658027	N/A
Dilated Cardiomyopathy	Dilated cardiomyopathy 1D, familial isolated dilated cardiomyopathy	rs74315379, rs45525839, rs727504255, rs730881116, rs74315380, rs397516463, rs121964855, rs397516471, rs111377893, rs727504246, rs397516457, rs121964860, rs397516464, rs121964858, rs45578238, rs727503512, rs397516455 View all (2 more)	N/A
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy 2, Primary familial hypertrophic cardiomyopathy	rs727503513, rs397516456, rs45578238, rs727504255, rs121964855, rs730881116, rs45525839, rs111377893, rs397516463, rs1571627587, rs727504246, rs397516470, rs121964856, rs74315380, rs727504247 View all (8 more)	N/A
Hypertrophic cardiomyopathy	hypertrophic cardiomyopathy	rs727504255, rs1553279294, rs397516463, rs730881116, rs397516456, rs111377893, rs121964855, rs727504246, rs397516470, rs397516457, rs730881122, rs121964856, rs727504247, rs727504331, rs397516455, rs376923877, rs121964858, rs727504277 View all (3 more)	N/A
Restrictive cardiomyopathy	restrictive cardiomyopathy	rs727503513	N/A

Show/Hide Unknown Diseases (4)

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.
Costello Syndrome	costello syndrome	N/A	N/A	ClinVar
Left Ventricular Hypertrophy	left ventricular hypertrophy	N/A	N/A	ClinVar
Ventricular Cardiomyopathy	arrhythmogenic right ventricular cardiomyopathy	N/A	N/A	GenCC
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White pattern	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (62)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acute Disease	Associate	22277685
Amputation Congenital	Stimulate	22277685
Aphasia Conduction	Associate	20458009
Apical Hypertrophic Cardiomyopathy	Associate	19293840, 22292720, 24594054, 37029482, 39849562
Arrhythmias Cardiac	Associate	32098556
Atrial Fibrillation	Associate	34732054
Barth Syndrome	Inhibit	40555742
Bohring syndrome	Associate	32969603
Brain Ischemia	Associate	20840783
Cardiomyopathies	Associate	12952912, 18651846, 20124440, 20458009, 22194935, 23074333, 23861158, 26212819, 26507537, 26811534, 28669108, 28815794, 28973951, 33986259, 35067102 View all (6 more)
Cardiomyopathies	Stimulate	22685114, 26896474
Cardiomyopathy Dilated	Associate	15542288, 18651846, 19293840, 20031601, 20201937, 22292720, 22464770, 23586019, 24037902, 24119082, 24205113, 25110706, 26095046, 26400351, 26458567 View all (19 more)
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Associate	26507537, 34853230
Cardiomyopathy Hypertrophic	Associate	12084606, 16199542, 18258667, 18651846, 19087273, 20031601, 20038417, 21896538, 22292720, 22429680, 22857948, 22869457, 23233322, 23396983, 23494605 View all (25 more)
Cardiomyopathy Hypertrophic Familial	Associate	12952912, 22112859, 22579624, 22857948, 35861968
Cardiomyopathy Restrictive	Associate	18651846, 30953456, 32098556, 35614389
Cardiovascular Diseases	Associate	23219305, 31014085
CD59 Deficiency	Associate	37692165
Chest Pain	Associate	32719074
Cognition Disorders	Associate	26884081
Colorectal Neoplasms	Stimulate	32627044
Coronary Disease	Associate	31746393
Coronary Occlusion	Associate	25999098
Crisponi syndrome	Associate	31748410
Death	Associate	21139111, 26494378, 28588090
Death	Stimulate	22277685
Death Sudden	Associate	12084606, 20038417, 23494605, 24119082, 26507537, 32098556
Death Sudden Cardiac	Associate	12952912, 23494605, 28669108, 37252999, 37787257
Diabetic Nephropathies	Associate	35637650
Down Syndrome	Associate	31201803
Fabry Disease	Associate	31308319
familial dilated cardiomyopathy	Associate	15542288, 18651846, 19412328, 24205113, 26498512, 33941202
Fibrosis	Stimulate	26999566
Genetic Diseases Inborn	Associate	26507537
Heart Diseases	Associate	21139111, 21962825, 23861158, 28669108, 33025817, 40430031
Heart Diseases	Stimulate	23924931, 23964755
Heart Failure	Associate	15542288, 20124440, 22685114, 23219305, 24119082, 28669108, 31014085, 33025817, 35861968
Hypertension	Associate	26494378
Hypertrophy	Associate	20038417
Hypertrophy Left Ventricular	Associate	18651846, 21139111
Hypertrophy Left Ventricular	Stimulate	23219305
Kidney Failure Chronic	Associate	26494378
Mitochondrial Diseases	Stimulate	23924931
Muscle Neoplasms	Associate	21962825
Muscular Diseases	Stimulate	21962825
Muscular Diseases	Associate	27803423, 29622161, 35389756
Myocardial Infarction	Associate	28588090, 28751286, 29475914, 35389756, 39395935
Myocardial Infarction	Stimulate	29622161
Myositis Inclusion Body	Stimulate	19813068
Myotonic Dystrophy	Associate	34371182
Necrosis	Associate	20840783
Neoplasms	Associate	33507690
Pericarditis Constrictive	Associate	35614389
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	24204736
Sarcoidosis	Associate	27803423
Signs and Symptoms	Associate	27803423
Syncope	Associate	28669108
Tricuspid Valve Insufficiency	Associate	31770195
Ventricular Dysfunction	Associate	26507537
Ventricular Dysfunction Left	Associate	24204736, 32098556, 34066613, 35861968
Ventricular Fibrillation	Associate	24119082
Wounds and Injuries	Associate	29691270

TNNT2 (troponin T2, cardiac type)