P45379 (TNNT2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Troponin T, cardiac muscle
Short name=TnTc

Alternative name(s):
Cardiac muscle troponin T
Short name=cTnT

Gene names

Name:

TNNT2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	298 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

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.
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 and 8 are expressed in fetal heart. Isoform 7 is also expressed in failing adult heart.
Post-translational modification	Phosphorylation at Thr-213 by PRKCA induces significant reduction in myofilament calcium sensitivity and actomyosin ATPase activity By similarity.
Involvement in disease	Defects in TNNT2 are the cause of familial hypertrophic cardiomyopathy type 2 (CMH2) [MIM:115195]. Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Ref.6 Ref.14 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.24 Ref.26 Ref.28 Ref.30 Defects in TNNT2 are the cause of cardiomyopathy dilated type 1D (CMD1D) [MIM:601494]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Ref.22 Ref.23 Ref.27 Ref.29 Defects in TNNT2 are the cause of familial restrictive cardiomyopathy type 3 (RCM3) [MIM:612422]. Restrictive cardiomyopathy is a heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. Ref.31
Sequence similarities	Belongs to the troponin T family.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Cardiomyopathy Disease mutation
Molecular function	Muscle protein
PTM	Acetylation Phosphoprotein
Technical term	3D-structure Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological process	ATP catabolic process Inferred from direct assay. Source: GOC muscle filament sliding Inferred from direct assay. Source: UniProtKB negative regulation of ATPase activity Inferred from direct assay. Source: UniProtKB positive regulation of ATPase activity Inferred from direct assay. Source: UniProtKB regulation of heart contraction Inferred from mutant phenotype Ref.27. Source: UniProtKB response to calcium ion Inferred from mutant phenotype Ref.14. Source: UniProtKB ventricular cardiac muscle tissue morphogenesis Inferred from mutant phenotype. Source: BHF-UCL
Cellular component	cytosol Traceable author statement. Source: Reactome troponin complex Inferred from direct assay. Source: UniProtKB
Molecular function	actin binding Inferred from direct assay Ref.14. Source: UniProtKB tropomyosin binding Inferred from direct assay. Source: UniProtKB troponin C binding Inferred from physical interaction Ref.27Ref.14. Source: UniProtKB troponin I binding Inferred from physical interaction Ref.27. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 10 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist. Experimental confirmation may be lacking for some isoforms.

Isoform 1 (identifier: P45379-1)

Also known as: TNT1;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: P45379-2)

The sequence of this isoform differs from the canonical sequence as follows:
     23-23: Missing.

Isoform 3 (identifier: P45379-3)

The sequence of this isoform differs from the canonical sequence as follows:
     54-54: Missing.

Isoform 4 (identifier: P45379-4)

The sequence of this isoform differs from the canonical sequence as follows:
     23-23: Missing.
     54-54: Missing.

Isoform 5 (identifier: P45379-5)

The sequence of this isoform differs from the canonical sequence as follows:
     201-201: Missing.

Isoform 6 (identifier: P45379-6)

Also known as: TNT3;

The sequence of this isoform differs from the canonical sequence as follows:
     23-32: Missing.

Isoform 7 (identifier: P45379-7)

Also known as: TNT4;

The sequence of this isoform differs from the canonical sequence as follows:
     18-32: Missing.

Isoform 8 (identifier: P45379-8)

Also known as: TNT2;

The sequence of this isoform differs from the canonical sequence as follows:
     18-22: Missing.

Isoform 9 (identifier: P45379-9)

The sequence of this isoform differs from the canonical sequence as follows:
     99-137: Missing.

Isoform 10 (identifier: P45379-10)

The sequence of this isoform differs from the canonical sequence as follows:
     201-203: Missing.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Initiator methionine

1

1

Removed

Chain

2 – 298

297

Troponin T, cardiac muscle

PRO_0000186173

Amino acid modifications

Modified residue

2

1

N-acetylserine By similarity

Modified residue

2

1

Phosphoserine; by CK2 By similarity

Modified residue

204

1

Phosphothreonine; by PKC/PRKCA By similarity

Modified residue

208

1

Phosphoserine; by PKC/PRKCA By similarity

Modified residue

213

1

Phosphothreonine; by PKC/PRKCA and RAF1 By similarity

Modified residue

294

1

Phosphothreonine; by PKC/PRKCA By similarity

Natural variations

Alternative sequence

18 – 32

15

Missing in isoform 7.

VSP_006642

Alternative sequence

18 – 22

5

Missing in isoform 8.

VSP_006641

Alternative sequence

23 – 32

10

Missing in isoform 6.

VSP_006643

Alternative sequence

23

1

Missing in isoform 2 and isoform 4.

VSP_006644

Alternative sequence

54

1

Missing in isoform 3 and isoform 4.

VSP_006645

Alternative sequence

99 – 137

39

Missing in isoform 9.

VSP_006646

Alternative sequence

201 – 203

3

Missing in isoform 10.

VSP_006648

Alternative sequence

201

1

Missing in isoform 5.

VSP_006647

Natural variant

80

1

F → L in CMH2. Ref.24

VAR_019877

Natural variant

89

1

I → N in CMH2. Ref.14

VAR_007605

Natural variant

102

1

R → L in CMH2. Ref.16

VAR_016195

Natural variant

102

1

R → Q in CMH2. Ref.14

VAR_007606

Natural variant

102

1

R → W in CMH2. Ref.17

VAR_016196

Natural variant

104

1

R → L in CMH2. Ref.19

VAR_009194

Natural variant

114

1

A → V in CMH2. Ref.20

VAR_016197

Natural variant

120

1

F → I in CMH2. Ref.6 Ref.15

VAR_007607

Natural variant

120

1

F → V in CMH2. Ref.24

VAR_019878

Natural variant

139

1

R → K.

VAR_013021

Natural variant

140

1

R → C in CMH2. Ref.28

VAR_042747

Natural variant

140

1

R → K.
Corresponds to variant rs2996496 [ dbSNP | Ensembl ].

VAR_029450

Natural variant

141

1

R → W in CMD1D. Ref.27

VAR_043983

Natural variant

151

1

R → W in CMD1D. Ref.23 Ref.29

VAR_016198

Natural variant

170

1

Missing in CMH2.

VAR_007608

Natural variant

173

1

E → K in CMH2. Ref.15

VAR_007609

Natural variant

189

1

S → F in CMH2. Ref.21

VAR_016199

Natural variant

210

1

Missing in CMD1D.

VAR_022931

Natural variant

215

1

R → L in CMD1D. Ref.27

VAR_043984

Natural variant

220

1

Missing in CMD1D.

VAR_043985

Natural variant

221

1

I → T.
Corresponds to variant rs45520032 [ dbSNP | Ensembl ].

VAR_042748

Natural variant

231

1

I → T.
Corresponds to variant rs45520032 [ dbSNP | Ensembl ].

VAR_057310

Natural variant

249

1

S → T.

VAR_013022

Natural variant

254

1

E → D in CMH2. Ref.15
Corresponds to variant rs45466197 [ dbSNP | Ensembl ].

VAR_007610

Natural variant

263

1

K → R. Ref.11

VAR_007611

Natural variant

279

1

N → Y.
Corresponds to variant rs4523540 [ dbSNP | Ensembl ].

VAR_029451

Natural variant

281

1

N → I in CMH2. Ref.24

VAR_019879

Natural variant

288

1

R → C in CMH2. Ref.15 Ref.30

VAR_007612

Natural variant

288

1

R → P in CMH2. Ref.18 Ref.26

VAR_007613

Natural variant

296

1

R → C in CMH2. Ref.24

VAR_019880

Experimental info

Sequence conflict

242

1

K → E in CAA70840. Ref.11

Secondary structure

1

.

.

.

.

.

298

Helix Strand Turn

Details...

Helix

214 – 231

18

Helix

236 – 279

44

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (TNT1) [UniParc]. Last modified January 23, 2007. Version 3. Checksum: 69974F2200CD5BEF	FASTA	298	35,924
	10 20 30 40 50 60 MSDIEEVVEE YEEEEQEEAA VEEEEDWRED EDEQEEAAEE DAEAEAETEE TRAEEDEEEE 70 80 90 100 110 120 EAKEAEDGPM EESKPKPRSF MPNLVPPKIP DGERVDFDDI HRKRMEKDLN ELQALIEAHF 130 140 150 160 170 180 ENRKKEEEEL VSLKDRIERR RAERAEQQRI RNEREKERQN RLAEERARRE EEENRRKAED 190 200 210 220 230 240 EARKKKALSN MMHFGGYIQK QAQTERKSGK RQTEREKKKK ILAERRKVLA IDHLNEDQLR 250 260 270 280 290 EKAKELWQSI YNLEAEKFDL QEKFKQQKYE INVLRNRIND NQKVSKTRGK AKVTGRWK
	Isoform 2 [UniParc]. Checksum: 7A88F02291D9BFFB	FASTA	297	35,794
	10 20 30 40 50 60 MSDIEEVVEE YEEEEQEEAA VEEEDWREDE DEQEEAAEED AEAEAETEET RAEEDEEEEE 70 80 90 100 110 120 AKEAEDGPME ESKPKPRSFM PNLVPPKIPD GERVDFDDIH RKRMEKDLNE LQALIEAHFE 130 140 150 160 170 180 NRKKEEEELV SLKDRIERRR AERAEQQRIR NEREKERQNR LAEERARREE EENRRKAEDE 190 200 210 220 230 240 ARKKKALSNM MHFGGYIQKQ AQTERKSGKR QTEREKKKKI LAERRKVLAI DHLNEDQLRE 250 260 270 280 290 KAKELWQSIY NLEAEKFDLQ EKFKQQKYEI NVLRNRINDN QKVSKTRGKA KVTGRWK
	Isoform 3 [UniParc]. Checksum: D2B458D8909A0404	FASTA	297	35,794
	10 20 30 40 50 60 MSDIEEVVEE YEEEEQEEAA VEEEEDWRED EDEQEEAAEE DAEAEAETEE TRAEDEEEEE 70 80 90 100 110 120 AKEAEDGPME ESKPKPRSFM PNLVPPKIPD GERVDFDDIH RKRMEKDLNE LQALIEAHFE 130 140 150 160 170 180 NRKKEEEELV SLKDRIERRR AERAEQQRIR NEREKERQNR LAEERARREE EENRRKAEDE 190 200 210 220 230 240 ARKKKALSNM MHFGGYIQKQ AQTERKSGKR QTEREKKKKI LAERRKVLAI DHLNEDQLRE 250 260 270 280 290 KAKELWQSIY NLEAEKFDLQ EKFKQQKYEI NVLRNRINDN QKVSKTRGKA KVTGRWK
	Isoform 4 [UniParc]. Checksum: ED0B5849847E101A	FASTA	296	35,665
	10 20 30 40 50 60 MSDIEEVVEE YEEEEQEEAA VEEEDWREDE DEQEEAAEED AEAEAETEET RAEDEEEEEA 70 80 90 100 110 120 KEAEDGPMEE SKPKPRSFMP NLVPPKIPDG ERVDFDDIHR KRMEKDLNEL QALIEAHFEN 130 140 150 160 170 180 RKKEEEELVS LKDRIERRRA ERAEQQRIRN EREKERQNRL AEERARREEE ENRRKAEDEA 190 200 210 220 230 240 RKKKALSNMM HFGGYIQKQA QTERKSGKRQ TEREKKKKIL AERRKVLAID HLNEDQLREK 250 260 270 280 290 AKELWQSIYN LEAEKFDLQE KFKQQKYEIN VLRNRINDNQ KVSKTRGKAK VTGRWK
	Isoform 5 [UniParc]. Checksum: A19DAF593FFCC93C	FASTA	297	35,795
	10 20 30 40 50 60 MSDIEEVVEE YEEEEQEEAA VEEEEDWRED EDEQEEAAEE DAEAEAETEE TRAEEDEEEE 70 80 90 100 110 120 EAKEAEDGPM EESKPKPRSF MPNLVPPKIP DGERVDFDDI HRKRMEKDLN ELQALIEAHF 130 140 150 160 170 180 ENRKKEEEEL VSLKDRIERR RAERAEQQRI RNEREKERQN RLAEERARRE EEENRRKAED 190 200 210 220 230 240 EARKKKALSN MMHFGGYIQK AQTERKSGKR QTEREKKKKI LAERRKVLAI DHLNEDQLRE 250 260 270 280 290 KAKELWQSIY NLEAEKFDLQ EKFKQQKYEI NVLRNRINDN QKVSKTRGKA KVTGRWK
	Isoform 6 (TNT3) [UniParc]. Checksum: F7956C33F94255B0	FASTA	288	34,590
	10 20 30 40 50 60 MSDIEEVVEE YEEEEQEEAA VEEQEEAAEE DAEAEAETEE TRAEEDEEEE EAKEAEDGPM 70 80 90 100 110 120 EESKPKPRSF MPNLVPPKIP DGERVDFDDI HRKRMEKDLN ELQALIEAHF ENRKKEEEEL 130 140 150 160 170 180 VSLKDRIERR RAERAEQQRI RNEREKERQN RLAEERARRE EEENRRKAED EARKKKALSN 190 200 210 220 230 240 MMHFGGYIQK QAQTERKSGK RQTEREKKKK ILAERRKVLA IDHLNEDQLR EKAKELWQSI 250 260 270 280 YNLEAEKFDL QEKFKQQKYE INVLRNRIND NQKVSKTRGK AKVTGRWK
	Isoform 7 (TNT4) [UniParc]. Checksum: E70D862729679EF5	FASTA	283	34,091
	10 20 30 40 50 60 MSDIEEVVEE YEEEEQEEQE EAAEEDAEAE AETEETRAEE DEEEEEAKEA EDGPMEESKP 70 80 90 100 110 120 KPRSFMPNLV PPKIPDGERV DFDDIHRKRM EKDLNELQAL IEAHFENRKK EEEELVSLKD 130 140 150 160 170 180 RIERRRAERA EQQRIRNERE KERQNRLAEE RARREEEENR RKAEDEARKK KALSNMMHFG 190 200 210 220 230 240 GYIQKQAQTE RKSGKRQTER EKKKKILAER RKVLAIDHLN EDQLREKAKE LWQSIYNLEA 250 260 270 280 EKFDLQEKFK QQKYEINVLR NRINDNQKVS KTRGKAKVTG RWK
	Isoform 8 (TNT2) [UniParc]. Checksum: D2E545EC0C3034DE	FASTA	293	35,424
	10 20 30 40 50 60 MSDIEEVVEE YEEEEQEEEE DWREDEDEQE EAAEEDAEAE AETEETRAEE DEEEEEAKEA 70 80 90 100 110 120 EDGPMEESKP KPRSFMPNLV PPKIPDGERV DFDDIHRKRM EKDLNELQAL IEAHFENRKK 130 140 150 160 170 180 EEEELVSLKD RIERRRAERA EQQRIRNERE KERQNRLAEE RARREEEENR RKAEDEARKK 190 200 210 220 230 240 KALSNMMHFG GYIQKQAQTE RKSGKRQTER EKKKKILAER RKVLAIDHLN EDQLREKAKE 250 260 270 280 290 LWQSIYNLEA EKFDLQEKFK QQKYEINVLR NRINDNQKVS KTRGKAKVTG RWK
	Isoform 9 [UniParc]. Checksum: A0B999CC0E2005AB	FASTA	259	31,137
	10 20 30 40 50 60 MSDIEEVVEE YEEEEQEEAA VEEEEDWRED EDEQEEAAEE DAEAEAETEE TRAEEDEEEE 70 80 90 100 110 120 EAKEAEDGPM EESKPKPRSF MPNLVPPKIP DGERVDFDER RRAERAEQQR IRNEREKERQ 130 140 150 160 170 180 NRLAEERARR EEEENRRKAE DEARKKKALS NMMHFGGYIQ KQAQTERKSG KRQTEREKKK 190 200 210 220 230 240 KILAERRKVL AIDHLNEDQL REKAKELWQS IYNLEAEKFD LQEKFKQQKY EINVLRNRIN 250 DNQKVSKTRG KAKVTGRWK
	Isoform 10 [UniParc]. Checksum: 51ADF1E637A72DDC	FASTA	295	35,596
	10 20 30 40 50 60 MSDIEEVVEE YEEEEQEEAA VEEEEDWRED EDEQEEAAEE DAEAEAETEE TRAEEDEEEE 70 80 90 100 110 120 EAKEAEDGPM EESKPKPRSF MPNLVPPKIP DGERVDFDDI HRKRMEKDLN ELQALIEAHF 130 140 150 160 170 180 ENRKKEEEEL VSLKDRIERR RAERAEQQRI RNEREKERQN RLAEERARRE EEENRRKAED 190 200 210 220 230 240 EARKKKALSN MMHFGGYIQK TERKSGKRQT EREKKKKILA ERRKVLAIDH LNEDQLREKA 250 260 270 280 290 KELWQSIYNL EAEKFDLQEK FKQQKYEINV LRNRINDNQK VSKTRGKAKV TGRWK

References

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[1]	"Molecular cloning and developmental expression of human cardiac troponin T." Mesnard L., Samson F., Espinasse I., Durand J., Neveux J.-Y., Mercadier J.-J. FEBS Lett. 328:139-144(1993) [PubMed: 8344420] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 6). Tissue: Heart.
[2]	"Human cardiac troponin T: identification of fetal isoforms and assignment of the TNNT2 locus to chromosome 1q." Townsend P.J., Farza H., Macgeoch C., Spurr N.K., Wade R., Gahlman R., Yacoub M.H., Barton P.J.R. Genomics 21:311-316(1994) [PubMed: 8088824] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 6). Tissue: Heart muscle.
[3]	"Molecular cloning of human cardiac troponin T isoforms: expression in developing and failing heart." Townsend P.J., Barton P.J.R., Yacoub M.H., Farza H. J. Mol. Cell. Cardiol. 27:2223-2236(1995) [PubMed: 8576938] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING. Tissue: Fetal heart.
[4]	"Molecular basis of human cardiac troponin T isoforms expressed in the developing, adult, and failing heart." Anderson P.A., Greig A., Mark T.M., Malouf N.N., Oakeley A.E., Ungerleider R.M., Allen P.D., Kay B.K. Circ. Res. 76:681-686(1995) [PubMed: 7534662] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 6; 7 AND 8). Tissue: Heart.
[5]	"Human cardiac troponin T: cloning and expression of new isoforms in the normal and failing heart." Mesnard L., Logeart D., Taviaux S., Diriong S., Mercadier J.-J., Samson F. Circ. Res. 76:687-692(1995) [PubMed: 7895342] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4; 5; 6 AND 10). Tissue: Fetal heart.
[6]	"A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy." Gerull B., Osterziel K.-J., Witt C., Dietz R., Thierfelder L. Hum. Mutat. 11:179-182(1998) [PubMed: 9482583] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 6), VARIANT CMH2 ILE-120. Tissue: Heart muscle.
[7]	"Genomic organization of the human cardiac troponin T gene (TNNT2) and characterization of the candidate promoter region." D'Cruz L.G., Oberoi J., Mughal F., Steffensen U., Steffensen M., Kubo T., Mogensen J., McKoy G., O'Donnoghue A., Pondel M., McKenna W.J., Carter N.D., Baboonian C. Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 6).
[8]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6). Tissue: Heart.
[9]	NHLBI resequencing and genotyping service (RS&G) Submitted (DEC-2006) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[10]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[11]	"Genomic organisation, alternative splicing and polymorphisms of the human cardiac troponin T gene." Farza H., Townsend P.J., Carrier L., Barton P.J., Mesnard L., Bahrend E., Forissier J.F., Fiszman M., Yacoub M.H., Schwartz K. J. Mol. Cell. Cardiol. 30:1247-1253(1998) [PubMed: 9689598] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 191-229 AND 231-288, ALTERNATIVE SPLICING, VARIANT ARG-263. Tissue: Blood.
[12]	"The major protein expression profile and two-dimensional protein database of human heart." Kovalyov L.I., Shishkin S.S., Efimochkin A.S., Kovalyova M.A., Ershova E.S., Egorov T.A., Musalyamov A.K. Electrophoresis 16:1160-1169(1995) [PubMed: 7498159] [Abstract] Cited for: PROTEIN SEQUENCE OF 70-76 AND 177-182. Tissue: Heart.
[13]	"Structure of the core domain of human cardiac troponin in the Ca(2+)-saturated form." Takeda S., Yamashita A., Maeda K., Maeda Y. Nature 424:35-41(2003) [PubMed: 12840750] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.61 ANGSTROMS) OF 193-298.
[14]	"Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere." Thierfelder L., Watkins H., Macrae C., Lamas R., McKenna W.J., Vosberg H.-P., Seidman J.G., Seidman C.E. Cell 77:701-712(1994) [PubMed: 8205619] [Abstract] Cited for: VARIANTS CMH2 ASN-89 AND GLN-102.
[15]	"Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy." Watkins H., McKenna W.J., Thierfelder L., Suk H.J., Anan R., O'Donoghue A., Spirito P., Matsumori A., Moravec C.S., Seidman J.G., Seidman C.E. N. Engl. J. Med. 332:1058-1064(1995) [PubMed: 7898523] [Abstract] Cited for: VARIANTS CMH2 ILE-120; LYS-173; ASP-254 AND CYS-288.
[16]	"Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy." Forissier J.F., Carrier L., Farza H., Bonne G., Bercovici J., Richard P., Hainque B., Townsend P.J., Yacoub M.H., Faure S., Dubourg O., Millaire A., Hagege A.A., Desnos M., Komajda M., Schwartz K. Circulation 94:3069-3073(1996) [PubMed: 8989109] [Abstract] Cited for: VARIANT CMH2 LEU-102.
[17]	"Sudden death due to troponin T mutations." Moolman J.C., Corfield V.A., Posen B., Ngumbela K., Seidman C., Brink P.A., Watkins H. J. Am. Coll. Cardiol. 29:549-555(1997) [PubMed: 9060892] [Abstract] Cited for: VARIANT CMH2 TRP-102.
[18]	"A novel missense Arg 278 Pro mutation in the troponin T gene (TNNT2)." Erdmann J., Wischke S., Kallisch H., Riedel K., Heidenreich M., Fleck E., Regitz-Zagrosek V. Hum. Mutat. 12:364-364(1998) Cited for: VARIANT CMH2 PRO-288.
[19]	"A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy." Varnava A., Baboonian C., Davison F., de Cruz L., Elliott P.M., Davies M.J., McKenna W.J. Heart 82:621-624(1999) [PubMed: 10525521] [Abstract] Cited for: VARIANT CMH2 LEU-104.
[20]	"Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy." Nakajima-Taniguchi C., Matsui H., Fujio Y., Nagata S., Kishimoto T., Yamauchi-Takihara K. J. Mol. Cell. Cardiol. 29:839-843(1997) [PubMed: 9140840] [Abstract] Cited for: VARIANT CMH2 VAL-114.
[21]	"Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy." Ho C.Y., Lever H.M., DeSanctis R., Farver C.F., Seidman J.G., Seidman C.E. Circulation 102:1950-1955(2000) [PubMed: 11034944] [Abstract] Cited for: VARIANT CMH2 PHE-189.
[22]	"Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy." Kamisago M., Sharma S.D., DePalma S.R., Solomon S., Sharma P., McDonough B., Smoot L., Mullen M.P., Woolf P.K., Wigle E.D., Seidman J.G., Seidman C.E. N. Engl. J. Med. 343:1688-1696(2000) [PubMed: 11106718] [Abstract] Cited for: VARIANT CMD1D LYS-210 DEL.
[23]	"Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy." Li D., Czernuszewicz G.Z., Gonzalez O., Tapscott T., Karibe A., Durand J.B., Brugada R., Hill R., Gregoritch J.M., Anderson J.L., Quinones M., Bachinski L.L., Roberts R. Circulation 104:2188-2193(2001) [PubMed: 11684629] [Abstract] Cited for: VARIANT CMD1D TRP-151.
[24]	"Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy." Richard P., Charron P., Carrier L., Ledeuil C., Cheav T., Pichereau C., Benaiche A., Isnard R., Dubourg O., Burban M., Gueffet J.-P., Millaire A., Desnos M., Schwartz K., Hainque B., Komajda M. Circulation 107:2227-2232(2003) [PubMed: 12707239] [Abstract] Cited for: VARIANTS CMH2 LEU-80; VAL-120; ILE-281 AND CYS-296.
[25]	Erratum Richard P., Charron P., Carrier L., Ledeuil C., Cheav T., Pichereau C., Benaiche A., Isnard R., Dubourg O., Burban M., Gueffet J.-P., Millaire A., Desnos M., Schwartz K., Hainque B., Komajda M. Circulation 109:3258-3258(2004)
[26]	"Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy." Erdmann J., Daehmlow S., Wischke S., Senyuva M., Werner U., Raible J., Tanis N., Dyachenko S., Hummel M., Hetzer R., Regitz-Zagrosek V. Clin. Genet. 64:339-349(2003) [PubMed: 12974739] [Abstract] Cited for: VARIANT CMH2 PRO-288.
[27]	"Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy." Mogensen J., Murphy R.T., Shaw T., Bahl A., Redwood C., Watkins H., Burke M., Elliott P.M., McKenna W.J. J. Am. Coll. Cardiol. 44:2033-2040(2004) [PubMed: 15542288] [Abstract] Cited for: VARIANTS CMD1D TRP-141; LEU-215 AND LYS-220 DEL.
[28]	"Mutations profile in Chinese patients with hypertrophic cardiomyopathy." Song L., Zou Y., Wang J., Wang Z., Zhen Y., Lou K., Zhang Q., Wang X., Wang H., Li J., Hui R. Clin. Chim. Acta 351:209-216(2005) [PubMed: 15563892] [Abstract] Cited for: VARIANT CMH2 CYS-140.
[29]	"Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene." Villard E., Duboscq-Bidot L., Charron P., Benaiche A., Conraads V., Sylvius N., Komajda M. Eur. Heart J. 26:794-803(2005) [PubMed: 15769782] [Abstract] Cited for: VARIANT CMD1D TRP-151.
[30]	"Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling." Ingles J., Doolan A., Chiu C., Seidman J., Seidman C., Semsarian C. J. Med. Genet. 42:E59-E59(2005) [PubMed: 16199542] [Abstract] Cited for: VARIANT CMH2 CYS-288.
[31]	"Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene." Peddy S.B., Vricella L.A., Crosson J.E., Oswald G.L., Cohn R.D., Cameron D.E., Valle D., Loeys B.L. Pediatrics 117:1830-1833(2006) [PubMed: 16651346] [Abstract] Cited for: INVOLVEMENT IN RCM3.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

S64668 mRNA. Translation: AAB27731.1. Sequence problems.
X74819 mRNA. Translation: CAA52818.1.
L40162 mRNA. Translation: AAA67422.1.
X79855 mRNA. Translation: CAA56235.1.
X79856 mRNA. Translation: CAA56236.1.
X79857 mRNA. Translation: CAA56237.1.
X79858 mRNA. Translation: CAA56238.1.
AF004422 , AF004409, AF004410, AF004411, AF004412, AF004413, AF004414, AF004415, AF004416, AF004417, AF004418, AF004419, AF004420, AF004421 Genomic DNA. Translation: AAC39590.1.
AY044273 Genomic DNA. Translation: AAK92231.1.
AK290621 mRNA. Translation: BAF83310.1.
EF179183 Genomic DNA. Translation: ABN05286.1.
AC119427 Genomic DNA. No translation available.
Y09626 Genomic DNA. Translation: CAA70839.1.
Y09627 Genomic DNA. Translation: CAA70840.1.
Y09628 Genomic DNA. Translation: CAA70841.1.
S71126 mRNA. Translation: AAB30956.1.
S71127, S71128 Genomic DNA. Translation: AAB30957.1.

IPI

IPI00021292.
IPI00218306.
IPI00218307.
IPI00218308.
IPI00218309.
IPI00218313.
IPI00471956.
IPI00478301.
IPI00654551.
IPI00747844.

PIR

TPHUTC. A54671.

RefSeq

NP_000355.2. NM_000364.2.
NP_001001430.1. NM_001001430.1.
NP_001001431.1. NM_001001431.1.
NP_001001432.1. NM_001001432.1.

UniGene

Hs.533613.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1J1D	X-ray	2.61	B/E	193-298	[»]
1J1E	X-ray	3.30	B/E	193-298	[»]

ProteinModelPortal

P45379.

SMR

P45379. Positions 210-284.

ModBase

Search...

Protein-protein interaction databases

STRING

P45379.

PTM databases

PhosphoSite

P45379.

Polymorphism databases

DMDM

21264536.

2D gel databases

UCD-2DPAGE

P45379.

Proteomic databases

PRIDE

P45379.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000357848; ENSP00000350511; ENSG00000118194.
ENST00000421663; ENSP00000404134; ENSG00000118194.

GeneID

7139.

KEGG

hsa:7139.

UCSC

uc001gwi.1. human.
uc009wzq.1. human.

Organism-specific databases

CTD

7139.

GeneCards

GC01M201328.

HGNC

HGNC:11949. TNNT2.

HPA

CAB015371.
HPA015774.
HPA017888.

MIM

115195. phenotype.
191045. gene.
601494. phenotype.
612422. phenotype.

neXtProt

NX_P45379.

Orphanet

154. Familial isolated dilated cardiomyopathy.
155. Familial isolated hypertrophic cardiomyopathy.
218432. Familial restrictive cardiomyopathy type 3.
54260. Left ventricular noncompaction.

PharmGKB

PA36638.

GenAtlas

Search...

Phylogenomic databases

HOGENOM

HBG445600.

HOVERGEN

HBG052790.

InParanoid

P45379.

OMA

QKYDLEK.

PhylomeDB

P45379.

Enzyme and pathway databases

Reactome

REACT_17044. Muscle contraction.

Gene expression databases

ArrayExpress

P45379.

Bgee

P45379.

CleanEx

HS_TNNT2.

Genevestigator

P45379.

GermOnline

ENSG00000118194. Homo sapiens.

Family and domain databases

InterPro

IPR001978. Troponin.
[Graphical view]

KO

K12045.

Pfam

PF00992. Troponin. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

SOURCE

Search...

Entry information

Entry name

TNNT2_HUMAN

Accession

Primary (citable) accession number: P45379
Secondary accession number(s): A2TDB9 , A8K3K6, O60214, Q99596, Q99597, Q9UM96

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1995
Last sequence update:	January 23, 2007
Last modified:	January 25, 2012
This is version 122 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.