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TNNT2 (troponin T2, cardiac type)

Gene

7139

Troponin T2, cardiac type

TNNT2

CMD1D, CMH2, CMPD2, LVNC6, RCM3, TnTC, cTnT

1q32.1

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. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. Transcripts for this gene undergo alternative splicing that results in many tissue-specific isoforms, however, the full-length nature of some of these variants has not yet been determined. [provided by RefSeq, Jul 2008]

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(27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IDA	8205619
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005523	Function	Tropomyosin binding	IBA	21873635
GO:0005523	Function	Tropomyosin binding	IDA	10850966
GO:0005829	Component	Cytosol	TAS
GO:0005861	Component	Troponin complex	IBA	21873635
GO:0005861	Component	Troponin complex	IDA	12186860
GO:0005865	Component	Striated muscle thin filament	IDA	12186860
GO:0006936	Process	Muscle contraction	IBA	21873635
GO:0006937	Process	Regulation of muscle contraction	IEA
GO:0008016	Process	Regulation of heart contraction	IMP	15542288
GO:0030017	Component	Sarcomere	TAS	16754800
GO:0030049	Process	Muscle filament sliding	IDA	12186860, 15923195
GO:0030049	Process	Muscle filament sliding	TAS
GO:0030172	Function	Troponin C binding	IBA	21873635
GO:0030172	Function	Troponin C binding	IPI	8205619, 15542288
GO:0031013	Function	Troponin I binding	IBA	21873635
GO:0031013	Function	Troponin I binding	IPI	15542288
GO:0032780	Process	Negative regulation of ATPase activity	IDA	10850966
GO:0032781	Process	Positive regulation of ATPase activity	IDA	10850966, 12186860
GO:0045214	Process	Sarcomere organization	IBA	21873635
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	21873635
GO:0060048	Process	Cardiac muscle contraction	IDA	25771144
GO:0097512	Component	Cardiac myofibril	IDA	25771144
GO:1990584	Component	Cardiac Troponin complex	IDA	25771144

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

Family and domains

Pfam

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

Sequence

MSDIEEVVEEYEEEEQEEAAVEEEEDWREDEDEQEEAAEEDAEAEAETEETRAEEDEEEE
EAKEAEDGPMEESKPKPRSFMPNLVPPKIPDGERVDFDDIHRKRMEKDLNELQALIEAHF
ENRKKEEEELVSLKDRIERRRAERAEQQRIRNEREKERQNRLAEERARREEEENRRKAED
EARKKKALSNMMHFGGYIQKQAQTERKSGKRQTEREKKKKILAERRKVLAIDHLNEDQLR
EKAKELWQSIYNLEAEKFDLQEKFKQQKYEINVLRNRINDNQKVSKTRGKAKVTGRWK

Sequence length

298

Interactions

View interactions

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