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P45379

- TNNT2_HUMAN

UniProt

P45379 - TNNT2_HUMAN

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Protein

Troponin T, cardiac muscle

Gene

TNNT2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

  1. actin binding Source: UniProtKB
  2. structural constituent of cytoskeleton Source: Ensembl
  3. tropomyosin binding Source: UniProtKB
  4. troponin C binding Source: UniProtKB
  5. troponin I binding Source: UniProtKB

GO - Biological processi

  1. ATP catabolic process Source: GOC
  2. atrial cardiac muscle tissue morphogenesis Source: Ensembl
  3. muscle filament sliding Source: UniProtKB
  4. negative regulation of ATPase activity Source: UniProtKB
  5. positive regulation of ATPase activity Source: UniProtKB
  6. regulation of heart contraction Source: UniProtKB
  7. regulation of muscle contraction Source: InterPro
  8. response to calcium ion Source: UniProtKB
  9. sarcomere organization Source: Ensembl
  10. ventricular cardiac muscle tissue morphogenesis Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Muscle protein

Enzyme and pathway databases

ReactomeiREACT_16969. Striated Muscle Contraction.

Names & Taxonomyi

Protein namesi
Recommended name:
Troponin T, cardiac muscle
Short name:
TnTc
Alternative name(s):
Cardiac muscle troponin T
Short name:
cTnT
Gene namesi
Name:TNNT2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:11949. TNNT2.

Subcellular locationi

GO - Cellular componenti

  1. cytosol Source: Reactome
  2. sarcomere Source: BHF-UCL
  3. striated muscle thin filament Source: UniProtKB
  4. troponin complex Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195]: 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.14 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti38 – 381A → V in CMH2. 1 Publication
Corresponds to variant rs200754249 [ dbSNP | Ensembl ].
VAR_067259
Natural varianti80 – 801F → L in CMH2. 1 Publication
VAR_019877
Natural varianti89 – 891I → N in CMH2. 1 Publication
VAR_007605
Natural varianti102 – 1021R → L in CMH2. 1 Publication
VAR_016195
Natural varianti102 – 1021R → Q in CMH2. 1 Publication
VAR_007606
Natural varianti102 – 1021R → W in CMH2. 1 Publication
VAR_016196
Natural varianti104 – 1041R → L in CMH2. 1 Publication
VAR_009194
Natural varianti114 – 1141A → V in CMH2. 1 Publication
VAR_016197
Natural varianti120 – 1201F → I in CMH2. 2 Publications
VAR_007607
Natural varianti120 – 1201F → V in CMH2. 1 Publication
VAR_019878
Natural varianti140 – 1401R → C in CMH2. 1 Publication
VAR_042747
Natural varianti170 – 1701Missing in CMH2.
VAR_007608
Natural varianti173 – 1731E → K in CMH2. 1 Publication
VAR_007609
Natural varianti189 – 1891S → F in CMH2. 1 Publication
VAR_016199
Natural varianti254 – 2541E → D in CMH2. 1 Publication
Corresponds to variant rs45466197 [ dbSNP | Ensembl ].
VAR_007610
Natural varianti281 – 2811N → I in CMH2. 1 Publication
VAR_019879
Natural varianti288 – 2881R → C in CMH2. 3 Publications
VAR_007612
Natural varianti288 – 2881R → P in CMH2. 2 Publications
VAR_007613
Natural varianti296 – 2961R → C in CMH2. 1 Publication
VAR_019880
Cardiomyopathy, dilated 1D (CMD1D) [MIM:601494]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.5 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti141 – 1411R → W in CMD1D. 2 Publications
VAR_043983
Natural varianti151 – 1511R → W in CMD1D. 2 Publications
VAR_016198
Natural varianti210 – 2101Missing in CMD1D. 1 Publication
VAR_022931
Natural varianti215 – 2151R → L in CMD1D. 1 Publication
VAR_043984
Natural varianti220 – 2201Missing in CMD1D. 2 Publications
VAR_043985
Cardiomyopathy, familial restrictive 3 (RCM3) [MIM:612422]: 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

MIMi115195. phenotype.
601494. phenotype.
612422. phenotype.
Orphaneti154. Familial isolated dilated cardiomyopathy.
155. Familial isolated hypertrophic cardiomyopathy.
75249. Familial isolated restrictive cardiomyopathy.
54260. Left ventricular noncompaction.
PharmGKBiPA36638.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11RemovedBy similarity
Chaini2 – 298297Troponin T, cardiac musclePRO_0000186173Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylserineBy similarity
Modified residuei2 – 21Phosphoserine; by CK2By similarity
Modified residuei204 – 2041Phosphothreonine; by PKC/PRKCABy similarity
Modified residuei208 – 2081Phosphoserine; by PKC/PRKCABy similarity
Modified residuei213 – 2131Phosphothreonine; by PKC/PRKCA and RAF1By similarity
Modified residuei294 – 2941Phosphothreonine; by PKC/PRKCABy similarity

Post-translational modificationi

Phosphorylation at Thr-213 by PRKCA induces significant reduction in myofilament calcium sensitivity and actomyosin ATPase activity.By similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

PaxDbiP45379.
PRIDEiP45379.

2D gel databases

UCD-2DPAGEP45379.

PTM databases

PhosphoSiteiP45379.

Expressioni

Tissue specificityi

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.

Gene expression databases

BgeeiP45379.
CleanExiHS_TNNT2.
ExpressionAtlasiP45379. baseline and differential.
GenevestigatoriP45379.

Organism-specific databases

HPAiCAB015371.
HPA015774.
HPA017888.

Interactioni

Protein-protein interaction databases

BioGridi112993. 7 interactions.
IntActiP45379. 1 interaction.
MINTiMINT-3015968.
STRINGi9606.ENSP00000350511.

Structurei

Secondary structure

1
298
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi214 – 23118Combined sources
Helixi236 – 27944Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1J1DX-ray2.61B/E193-298[»]
1J1EX-ray3.30B/E193-298[»]
ProteinModelPortaliP45379.
SMRiP45379. Positions 210-284.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP45379.

Family & Domainsi

Sequence similaritiesi

Belongs to the troponin T family.Curated

Phylogenomic databases

eggNOGiNOG299534.
GeneTreeiENSGT00390000013611.
HOGENOMiHOG000231049.
HOVERGENiHBG052790.
InParanoidiP45379.
KOiK12045.
OrthoDBiEOG7W155J.
PhylomeDBiP45379.
TreeFamiTF313321.

Family and domain databases

InterProiIPR027707. TNNT.
IPR001978. Troponin.
[Graphical view]
PANTHERiPTHR11521. PTHR11521. 1 hit.
PfamiPF00992. Troponin. 1 hit.
[Graphical view]

Sequences (12)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 12 isoformsi produced by alternative splicing. Align

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

Isoform 1 (identifier: P45379-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MSDIEEVVEE YEEEEQEEAA VEEEEDWRED EDEQEEAAEE DAEAEAETEE
60 70 80 90 100
TRAEEDEEEE EAKEAEDGPM EESKPKPRSF MPNLVPPKIP DGERVDFDDI
110 120 130 140 150
HRKRMEKDLN ELQALIEAHF ENRKKEEEEL VSLKDRIERR RAERAEQQRI
160 170 180 190 200
RNEREKERQN RLAEERARRE EEENRRKAED EARKKKALSN MMHFGGYIQK
210 220 230 240 250
QAQTERKSGK RQTEREKKKK ILAERRKVLA IDHLNEDQLR EKAKELWQSI
260 270 280 290
YNLEAEKFDL QEKFKQQKYE INVLRNRIND NQKVSKTRGK AKVTGRWK
Length:298
Mass (Da):35,924
Last modified:January 23, 2007 - v3
Checksum:i69974F2200CD5BEF
GO
Isoform 2 (identifier: P45379-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:297
Mass (Da):35,794
Checksum:i7A88F02291D9BFFB
GO
Isoform 3 (identifier: P45379-3) [UniParc]FASTAAdd to Basket

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

Show »
Length:297
Mass (Da):35,794
Checksum:iD2B458D8909A0404
GO
Isoform 4 (identifier: P45379-4) [UniParc]FASTAAdd to Basket

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

Show »
Length:296
Mass (Da):35,665
Checksum:iED0B5849847E101A
GO
Isoform 5 (identifier: P45379-5) [UniParc]FASTAAdd to Basket

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

Show »
Length:297
Mass (Da):35,795
Checksum:iA19DAF593FFCC93C
GO
Isoform 6 (identifier: P45379-6) [UniParc]FASTAAdd to Basket

Also known as: TNT3

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

Show »
Length:288
Mass (Da):34,590
Checksum:iF7956C33F94255B0
GO
Isoform 7 (identifier: P45379-7) [UniParc]FASTAAdd to Basket

Also known as: TNT4

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

Show »
Length:283
Mass (Da):34,091
Checksum:iE70D862729679EF5
GO
Isoform 8 (identifier: P45379-8) [UniParc]FASTAAdd to Basket

Also known as: TNT2

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

Show »
Length:293
Mass (Da):35,424
Checksum:iD2E545EC0C3034DE
GO
Isoform 9 (identifier: P45379-9) [UniParc]FASTAAdd to Basket

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

Show »
Length:259
Mass (Da):31,137
Checksum:iA0B999CC0E2005AB
GO
Isoform 10 (identifier: P45379-10) [UniParc]FASTAAdd to Basket

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

Show »
Length:295
Mass (Da):35,596
Checksum:i51ADF1E637A72DDC
GO
Isoform 11 (identifier: P45379-11) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     23-32: Missing.
     201-203: Missing.

Note: No experimental confirmation available.

Show »
Length:285
Mass (Da):34,263
Checksum:iF0547EE868527B3D
GO
Isoform 12 (identifier: P45379-12) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     54-54: Missing.
     99-137: Missing.
     201-203: Missing.

Show »
Length:255
Mass (Da):30,681
Checksum:iD20694B11931D87A
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti242 – 2421K → E in CAA70840. (PubMed:9689598)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti38 – 381A → V in CMH2. 1 Publication
Corresponds to variant rs200754249 [ dbSNP | Ensembl ].
VAR_067259
Natural varianti80 – 801F → L in CMH2. 1 Publication
VAR_019877
Natural varianti89 – 891I → N in CMH2. 1 Publication
VAR_007605
Natural varianti102 – 1021R → L in CMH2. 1 Publication
VAR_016195
Natural varianti102 – 1021R → Q in CMH2. 1 Publication
VAR_007606
Natural varianti102 – 1021R → W in CMH2. 1 Publication
VAR_016196
Natural varianti104 – 1041R → L in CMH2. 1 Publication
VAR_009194
Natural varianti114 – 1141A → V in CMH2. 1 Publication
VAR_016197
Natural varianti120 – 1201F → I in CMH2. 2 Publications
VAR_007607
Natural varianti120 – 1201F → V in CMH2. 1 Publication
VAR_019878
Natural varianti139 – 1391R → K.
VAR_013021
Natural varianti140 – 1401R → C in CMH2. 1 Publication
VAR_042747
Natural varianti140 – 1401R → K.
Corresponds to variant rs2996496 [ dbSNP | Ensembl ].
VAR_029450
Natural varianti141 – 1411R → W in CMD1D. 2 Publications
VAR_043983
Natural varianti151 – 1511R → W in CMD1D. 2 Publications
VAR_016198
Natural varianti170 – 1701Missing in CMH2.
VAR_007608
Natural varianti173 – 1731E → K in CMH2. 1 Publication
VAR_007609
Natural varianti189 – 1891S → F in CMH2. 1 Publication
VAR_016199
Natural varianti210 – 2101Missing in CMD1D. 1 Publication
VAR_022931
Natural varianti215 – 2151R → L in CMD1D. 1 Publication
VAR_043984
Natural varianti220 – 2201Missing in CMD1D. 2 Publications
VAR_043985
Natural varianti221 – 2211I → T.
Corresponds to variant rs45520032 [ dbSNP | Ensembl ].
VAR_042748
Natural varianti231 – 2311I → T.
Corresponds to variant rs45520032 [ dbSNP | Ensembl ].
VAR_057310
Natural varianti249 – 2491S → T.
VAR_013022
Natural varianti254 – 2541E → D in CMH2. 1 Publication
Corresponds to variant rs45466197 [ dbSNP | Ensembl ].
VAR_007610
Natural varianti263 – 2631K → R.1 Publication
VAR_007611
Natural varianti279 – 2791N → Y.
Corresponds to variant rs4523540 [ dbSNP | Ensembl ].
VAR_029451
Natural varianti281 – 2811N → I in CMH2. 1 Publication
VAR_019879
Natural varianti288 – 2881R → C in CMH2. 3 Publications
VAR_007612
Natural varianti288 – 2881R → P in CMH2. 2 Publications
VAR_007613
Natural varianti296 – 2961R → C in CMH2. 1 Publication
VAR_019880

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei18 – 3215Missing in isoform 7. 1 PublicationVSP_006642Add
BLAST
Alternative sequencei18 – 225Missing in isoform 8. 1 PublicationVSP_006641
Alternative sequencei23 – 3210Missing in isoform 6 and isoform 11. 6 PublicationsVSP_006643
Alternative sequencei23 – 231Missing in isoform 2 and isoform 4. 1 PublicationVSP_006644
Alternative sequencei54 – 541Missing in isoform 3, isoform 4 and isoform 12. 2 PublicationsVSP_006645
Alternative sequencei99 – 13739Missing in isoform 9 and isoform 12. 1 PublicationVSP_006646Add
BLAST
Alternative sequencei201 – 2033Missing in isoform 10, isoform 11 and isoform 12. 3 PublicationsVSP_006648
Alternative sequencei201 – 2011Missing in isoform 5. 1 PublicationVSP_006647

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
BC002653 mRNA. Translation: AAH02653.1.
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.
CCDSiCCDS30968.1. [P45379-11]
CCDS30969.1. [P45379-6]
CCDS60390.1. [P45379-12]
CCDS73003.1. [P45379-1]
PIRiA54671. TPHUTC.
RefSeqiNP_000355.2. NM_000364.3. [P45379-10]
NP_001001430.1. NM_001001430.2. [P45379-6]
NP_001001431.1. NM_001001431.2. [P45379-11]
NP_001001432.1. NM_001001432.2.
NP_001263274.1. NM_001276345.1. [P45379-1]
NP_001263275.1. NM_001276346.1. [P45379-12]
NP_001263276.1. NM_001276347.1. [P45379-6]
XP_006711571.1. XM_006711508.1. [P45379-6]
XP_006711575.1. XM_006711512.1. [P45379-11]
XP_006711576.1. XM_006711513.1. [P45379-7]
UniGeneiHs.533613.

Genome annotation databases

EnsembliENST00000236918; ENSP00000236918; ENSG00000118194. [P45379-1]
ENST00000360372; ENSP00000353535; ENSG00000118194. [P45379-12]
ENST00000367318; ENSP00000356287; ENSG00000118194. [P45379-6]
ENST00000367320; ENSP00000356289; ENSG00000118194. [P45379-12]
ENST00000367322; ENSP00000356291; ENSG00000118194. [P45379-11]
ENST00000509001; ENSP00000422031; ENSG00000118194. [P45379-6]
GeneIDi7139.
KEGGihsa:7139.
UCSCiuc001gwf.4. human. [P45379-1]
uc001gwg.4. human. [P45379-11]
uc001gwi.4. human. [P45379-3]
uc009wzt.2. human. [P45379-6]

Polymorphism databases

DMDMi21264536.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
BC002653 mRNA. Translation: AAH02653.1 .
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 .
CCDSi CCDS30968.1. [P45379-11 ]
CCDS30969.1. [P45379-6 ]
CCDS60390.1. [P45379-12 ]
CCDS73003.1. [P45379-1 ]
PIRi A54671. TPHUTC.
RefSeqi NP_000355.2. NM_000364.3. [P45379-10 ]
NP_001001430.1. NM_001001430.2. [P45379-6 ]
NP_001001431.1. NM_001001431.2. [P45379-11 ]
NP_001001432.1. NM_001001432.2.
NP_001263274.1. NM_001276345.1. [P45379-1 ]
NP_001263275.1. NM_001276346.1. [P45379-12 ]
NP_001263276.1. NM_001276347.1. [P45379-6 ]
XP_006711571.1. XM_006711508.1. [P45379-6 ]
XP_006711575.1. XM_006711512.1. [P45379-11 ]
XP_006711576.1. XM_006711513.1. [P45379-7 ]
UniGenei Hs.533613.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
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 [» ]
ProteinModelPortali P45379.
SMRi P45379. Positions 210-284.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112993. 7 interactions.
IntActi P45379. 1 interaction.
MINTi MINT-3015968.
STRINGi 9606.ENSP00000350511.

Chemistry

ChEMBLi CHEMBL2095202.

PTM databases

PhosphoSitei P45379.

Polymorphism databases

DMDMi 21264536.

2D gel databases

UCD-2DPAGE P45379.

Proteomic databases

PaxDbi P45379.
PRIDEi P45379.

Protocols and materials databases

DNASUi 7139.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000236918 ; ENSP00000236918 ; ENSG00000118194 . [P45379-1 ]
ENST00000360372 ; ENSP00000353535 ; ENSG00000118194 . [P45379-12 ]
ENST00000367318 ; ENSP00000356287 ; ENSG00000118194 . [P45379-6 ]
ENST00000367320 ; ENSP00000356289 ; ENSG00000118194 . [P45379-12 ]
ENST00000367322 ; ENSP00000356291 ; ENSG00000118194 . [P45379-11 ]
ENST00000509001 ; ENSP00000422031 ; ENSG00000118194 . [P45379-6 ]
GeneIDi 7139.
KEGGi hsa:7139.
UCSCi uc001gwf.4. human. [P45379-1 ]
uc001gwg.4. human. [P45379-11 ]
uc001gwi.4. human. [P45379-3 ]
uc009wzt.2. human. [P45379-6 ]

Organism-specific databases

CTDi 7139.
GeneCardsi GC01M201328.
GeneReviewsi TNNT2.
HGNCi HGNC:11949. TNNT2.
HPAi CAB015371.
HPA015774.
HPA017888.
MIMi 115195. phenotype.
191045. gene.
601494. phenotype.
612422. phenotype.
neXtProti NX_P45379.
Orphaneti 154. Familial isolated dilated cardiomyopathy.
155. Familial isolated hypertrophic cardiomyopathy.
75249. Familial isolated restrictive cardiomyopathy.
54260. Left ventricular noncompaction.
PharmGKBi PA36638.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG299534.
GeneTreei ENSGT00390000013611.
HOGENOMi HOG000231049.
HOVERGENi HBG052790.
InParanoidi P45379.
KOi K12045.
OrthoDBi EOG7W155J.
PhylomeDBi P45379.
TreeFami TF313321.

Enzyme and pathway databases

Reactomei REACT_16969. Striated Muscle Contraction.

Miscellaneous databases

ChiTaRSi TNNT2. human.
EvolutionaryTracei P45379.
GeneWikii TNNT2.
GenomeRNAii 7139.
NextBioi 27933.
PROi P45379.
SOURCEi Search...

Gene expression databases

Bgeei P45379.
CleanExi HS_TNNT2.
ExpressionAtlasi P45379. baseline and differential.
Genevestigatori P45379.

Family and domain databases

InterProi IPR027707. TNNT.
IPR001978. Troponin.
[Graphical view ]
PANTHERi PTHR11521. PTHR11521. 1 hit.
Pfami PF00992. Troponin. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 6 AND 12).
    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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  11. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 11).
    Tissue: Uterus.
  12. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 191-229 AND 231-288, ALTERNATIVE SPLICING, VARIANT ARG-263.
    Tissue: Blood.
  13. "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] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 70-76 AND 177-182.
    Tissue: Heart.
  14. "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] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.61 ANGSTROMS) OF 193-298.
  15. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMH2 ASN-89 AND GLN-102.
  16. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMH2 ILE-120; LYS-173; ASP-254 AND CYS-288.
  17. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT CMH2 LEU-102.
  18. Cited for: VARIANT CMH2 TRP-102.
  19. "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.
  20. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT CMH2 LEU-104.
  21. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT CMH2 VAL-114.
  22. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT CMH2 PHE-189.
  23. Cited for: VARIANT CMD1D LYS-210 DEL.
  24. Cited for: VARIANT CMD1D TRP-151.
  25. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMH2 LEU-80; VAL-120; ILE-281 AND CYS-296.
  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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN RCM3.
  32. Cited for: VARIANTS CMH2 VAL-38 AND CYS-288, VARIANTS CMD1D TRP-141 AND LYS-220 DEL.

Entry informationi

Entry nameiTNNT2_HUMAN
AccessioniPrimary (citable) accession number: P45379
Secondary accession number(s): A2TDB9
, A8K3K6, O60214, Q99596, Q99597, Q9BUF6, Q9UM96
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: January 23, 2007
Last modified: November 26, 2014
This is version 153 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3