Details for: TNNT2

Gene ID: 7139

Symbol: TNNT2

Ensembl ID: ENSG00000118194

Description: troponin T2, cardiac type

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 22.7581
    Cell Significance Index: 65.2200
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 9.5248
    Cell Significance Index: 140.6200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 8.5758
    Cell Significance Index: 658.1000
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.9788
    Cell Significance Index: 13.1400
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.3183
    Cell Significance Index: 18.9600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 1.2685
    Cell Significance Index: 77.7700
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.8968
    Cell Significance Index: 7.1600
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.8877
    Cell Significance Index: 9.6500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.8431
    Cell Significance Index: 56.6900
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.8248
    Cell Significance Index: 19.9800
  • Cell Name: myoblast (CL0000056)
    Fold Change: 0.6177
    Cell Significance Index: 6.0700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2819
    Cell Significance Index: 53.6600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2193
    Cell Significance Index: 21.7000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2171
    Cell Significance Index: 196.0100
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: 0.1778
    Cell Significance Index: 0.2300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1430
    Cell Significance Index: 28.6900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1145
    Cell Significance Index: 3.3000
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.0850
    Cell Significance Index: 1.2200
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.0798
    Cell Significance Index: 0.6900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0790
    Cell Significance Index: 3.5800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0684
    Cell Significance Index: 11.1200
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 0.0577
    Cell Significance Index: 0.1300
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.0547
    Cell Significance Index: 0.5200
  • Cell Name: embryonic fibroblast (CL2000042)
    Fold Change: 0.0481
    Cell Significance Index: 0.2300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0333
    Cell Significance Index: 0.9300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0295
    Cell Significance Index: 3.4400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0098
    Cell Significance Index: 4.3500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0088
    Cell Significance Index: 0.3100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0030
    Cell Significance Index: 1.0900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0005
    Cell Significance Index: 0.3000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0036
    Cell Significance Index: -0.0900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0038
    Cell Significance Index: -0.4700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0065
    Cell Significance Index: -12.3000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.0140
    Cell Significance Index: -1.5300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0148
    Cell Significance Index: -2.6700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0152
    Cell Significance Index: -11.2300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0153
    Cell Significance Index: -11.2400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0160
    Cell Significance Index: -12.1000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0211
    Cell Significance Index: -11.8900
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.0226
    Cell Significance Index: -0.2900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0316
    Cell Significance Index: -1.6400
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0393
    Cell Significance Index: -1.9800
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0405
    Cell Significance Index: -1.6600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0449
    Cell Significance Index: -12.9100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0525
    Cell Significance Index: -3.7100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0535
    Cell Significance Index: -10.6100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0565
    Cell Significance Index: -9.6500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0607
    Cell Significance Index: -8.3400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.0656
    Cell Significance Index: -4.5400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0717
    Cell Significance Index: -1.2300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0779
    Cell Significance Index: -10.0700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0799
    Cell Significance Index: -9.1600
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0852
    Cell Significance Index: -0.9700
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.0863
    Cell Significance Index: -1.3400
  • Cell Name: serous secreting cell of bronchus submucosal gland (CL4033005)
    Fold Change: -0.0917
    Cell Significance Index: -0.9200
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0980
    Cell Significance Index: -2.3900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1048
    Cell Significance Index: -2.2700
  • Cell Name: airway submucosal gland duct basal cell (CL4033024)
    Fold Change: -0.1098
    Cell Significance Index: -0.9600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1122
    Cell Significance Index: -11.4600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1143
    Cell Significance Index: -6.0000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1184
    Cell Significance Index: -7.4600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1259
    Cell Significance Index: -5.8700
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: -0.1322
    Cell Significance Index: -0.5800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1362
    Cell Significance Index: -2.8500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1463
    Cell Significance Index: -11.5900
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.1487
    Cell Significance Index: -1.6300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1521
    Cell Significance Index: -3.9100
  • Cell Name: mural cell (CL0008034)
    Fold Change: -0.1618
    Cell Significance Index: -1.9700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1664
    Cell Significance Index: -9.3400
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1702
    Cell Significance Index: -4.2500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1712
    Cell Significance Index: -12.7600
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: -0.1783
    Cell Significance Index: -2.2100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1835
    Cell Significance Index: -11.8400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1911
    Cell Significance Index: -6.6400
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.1929
    Cell Significance Index: -2.6500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.1931
    Cell Significance Index: -11.5900
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.1951
    Cell Significance Index: -2.6000
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.1965
    Cell Significance Index: -2.6500
  • Cell Name: muscle cell (CL0000187)
    Fold Change: -0.2028
    Cell Significance Index: -1.9400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2039
    Cell Significance Index: -12.5400
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.2071
    Cell Significance Index: -3.5400
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2140
    Cell Significance Index: -7.8600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2182
    Cell Significance Index: -9.6500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2298
    Cell Significance Index: -10.8000
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.2322
    Cell Significance Index: -1.7900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2543
    Cell Significance Index: -9.6300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2608
    Cell Significance Index: -7.1000
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.2718
    Cell Significance Index: -6.2800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2763
    Cell Significance Index: -8.8000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2876
    Cell Significance Index: -8.4700
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: -0.2913
    Cell Significance Index: -1.7200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3000
    Cell Significance Index: -10.5100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.3154
    Cell Significance Index: -8.4500
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.3226
    Cell Significance Index: -8.2200
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.3314
    Cell Significance Index: -3.6100
  • Cell Name: perineurial cell (CL0002576)
    Fold Change: -0.3431
    Cell Significance Index: -3.5400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3439
    Cell Significance Index: -11.2600
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: -0.3467
    Cell Significance Index: -7.2300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.3479
    Cell Significance Index: -9.2900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.3480
    Cell Significance Index: -9.1500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** TNNT2 is a member of the troponin family, which is a group of regulatory proteins essential for muscle contraction. The cardiac type of troponin T2 is specifically expressed in cardiac muscle cells and is characterized by its high degree of homology with other troponin T isoforms. TNNT2 is a small, globular protein that binds to tropomyosin and troponin C, regulating the interaction between actin and myosin filaments. This regulation is critical for the precise control of muscle contraction, allowing for the fine-tuning of force generation and relaxation. **Pathways and Functions:** TNNT2 is involved in several key pathways that regulate muscle contraction, including: 1. **Cardiac muscle contraction:** TNNT2 plays a central role in regulating cardiac muscle contraction, working in conjunction with troponin C and tropomyosin to control the interaction between actin and myosin filaments. 2. **Muscle filament sliding:** TNNT2 regulates the sliding of myosin filaments along actin filaments, allowing for the generation of force during muscle contraction. 3. **Regulation of heart contraction:** TNNT2 is involved in the regulation of heart contraction, working to fine-tune the force generated by the heart muscle. 4. **Regulation of muscle contraction:** TNNT2 regulates muscle contraction in various tissues, including skeletal muscle and cardiac muscle. **Clinical Significance:** Dysregulation of TNNT2 has been implicated in various cardiac and muscular disorders, including: 1. **Cardiac hypertrophy:** Overexpression of TNNT2 has been linked to cardiac hypertrophy, a condition characterized by the thickening of the heart muscle. 2. **Dilated cardiomyopathy:** Mutations in the TNNT2 gene have been associated with dilated cardiomyopathy, a condition characterized by the enlargement of the heart and impaired cardiac function. 3. **Muscular dystrophy:** TNNT2 has been implicated in various forms of muscular dystrophy, including myotonic dystrophy and limb-girdle muscular dystrophy. 4. **Arrhythmias:** Abnormalities in TNNT2 expression have been linked to arrhythmias, including atrial fibrillation and ventricular tachycardia. In conclusion, TNNT2 is a critical component of the cardiac troponin complex, playing a pivotal role in regulating cardiac muscle contraction. Its dysregulation has been implicated in various cardiac and muscular disorders, highlighting the importance of TNNT2 in maintaining cardiac and muscular homeostasis. Further research is necessary to fully elucidate the functions and clinical significance of TNNT2, but it is clear that this gene is a key player in the regulation of muscle contraction and cardiac function.

Genular Protein ID: 144542255

Symbol: TNNT2_HUMAN

Name: Troponin T, cardiac muscle

UniProtKB Accession Codes:

P45379 A2TDB9 A8K3K6 O60214 Q99596 Q99597 Q9BUF6 Q9UM96

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 4 CPTC 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 EMBL 32 EMDB 2 Ensembl 8 EvolutionaryTrace 1 ExpressionAtlas 1 GO 20 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 15 PDBsum 15 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 11 RNAct 1 Reactome 1 RefSeq 14 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8344420

Title: Molecular cloning and developmental expression of human cardiac troponin T.

PubMed ID: 8344420

DOI: 10.1016/0014-5793(93)80981-y

PubMed ID: 8088824

Title: Human cardiac troponin T: identification of fetal isoforms and assignment of the TNNT2 locus to chromosome 1q.

PubMed ID: 8088824

DOI: 10.1006/geno.1994.1271

PubMed ID: 8576938

Title: Molecular cloning of human cardiac troponin T isoforms: expression in developing and failing heart.

PubMed ID: 8576938

DOI: 10.1016/s0022-2828(95)91587-7

PubMed ID: 7534662

Title: Molecular basis of human cardiac troponin T isoforms expressed in the developing, adult, and failing heart.

PubMed ID: 7534662

DOI: 10.1161/01.res.76.4.681

PubMed ID: 7895342

Title: Human cardiac troponin T: cloning and expression of new isoforms in the normal and failing heart.

PubMed ID: 7895342

DOI: 10.1161/01.res.76.4.687

PubMed ID: 9482583

Title: A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy.

PubMed ID: 9482583

DOI: 10.1002/(sici)1098-1004(1998)11:2<179::aid-humu12>3.0.co;2-w

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9689598

Title: Genomic organisation, alternative splicing and polymorphisms of the human cardiac troponin T gene.

PubMed ID: 9689598

DOI: 10.1006/jmcc.1998.0698

PubMed ID: 7498159

Title: The major protein expression profile and two-dimensional protein database of human heart.

PubMed ID: 7498159

DOI: 10.1002/elps.11501601192

PubMed ID: 12840750

Title: Structure of the core domain of human cardiac troponin in the Ca(2+)-saturated form.

PubMed ID: 12840750

DOI: 10.1038/nature01780

PubMed ID: 8205619

Title: Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.

PubMed ID: 8205619

DOI: 10.1016/0092-8674(94)90054-x

PubMed ID: 7898523

Title: Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.

PubMed ID: 7898523

DOI: 10.1056/nejm199504203321603

PubMed ID: 8989109

Title: Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy.

PubMed ID: 8989109

DOI: 10.1161/01.cir.94.12.3069

PubMed ID: 9060892

Title: Sudden death due to troponin T mutations.

PubMed ID: 9060892

DOI: 10.1016/s0735-1097(96)00530-x

PubMed ID: 10525521

Title: A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy.

PubMed ID: 10525521

DOI: 10.1136/hrt.82.5.621

PubMed ID: 9140840

Title: Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy.

PubMed ID: 9140840

DOI: 10.1006/jmcc.1996.0322

PubMed ID: 11034944

Title: Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy.

PubMed ID: 11034944

DOI: 10.1161/01.cir.102.16.1950

PubMed ID: 11106718

Title: Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.

PubMed ID: 11106718

DOI: 10.1056/nejm200012073432304

PubMed ID: 11684629

Title: Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy.

PubMed ID: 11684629

DOI: 10.1161/hc4301.098285

PubMed ID: 12707239

Title: Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

PubMed ID: 12707239

DOI: 10.1161/01.cir.0000066323.15244.54

PubMed ID: 12974739

Title: Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

PubMed ID: 12974739

DOI: 10.1034/j.1399-0004.2003.00151.x

PubMed ID: 15542288

Title: Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy.

PubMed ID: 15542288

DOI: 10.1016/j.jacc.2004.08.027

PubMed ID: 15563892

Title: Mutations profile in Chinese patients with hypertrophic cardiomyopathy.

PubMed ID: 15563892

DOI: 10.1016/j.cccn.2004.09.016

PubMed ID: 15769782

Title: Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene.

PubMed ID: 15769782

DOI: 10.1093/eurheartj/ehi193

PubMed ID: 16199542

Title: Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.

PubMed ID: 16199542

DOI: 10.1136/jmg.2005.033886

PubMed ID: 16651346

Title: Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene.

PubMed ID: 16651346

DOI: 10.1542/peds.2005-2301

PubMed ID: 21846512

Title: Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

PubMed ID: 21846512

DOI: 10.1016/j.ejmg.2011.07.005

Sequence Information:

  • Length: 298
  • Mass: 35924
  • Checksum: 69974F2200CD5BEF
  • Sequence:
    • MSDIEEVVEE YEEEEQEEAA VEEEEDWRED EDEQEEAAEE DAEAEAETEE TRAEEDEEEE 
EAKEAEDGPM EESKPKPRSF MPNLVPPKIP DGERVDFDDI HRKRMEKDLN ELQALIEAHF 
ENRKKEEEEL VSLKDRIERR RAERAEQQRI RNEREKERQN RLAEERARRE EEENRRKAED 
EARKKKALSN MMHFGGYIQK QAQTERKSGK RQTEREKKKK ILAERRKVLA IDHLNEDQLR 
EKAKELWQSI YNLEAEKFDL QEKFKQQKYE INVLRNRIND NQKVSKTRGK AKVTGRWK

Genular Protein ID: 2004892517

Symbol: Q15607_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q15607

Database IDs:

ARBA 5 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 7 Gene3D 1 InterPro 3 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIR 1 PeptideAtlas 1 Pfam 1 RefSeq 1 SAM 1 SMR 1 SUPFAM 1

Citations:

PubMed ID: 8576938

Title: Molecular cloning of human cardiac troponin T isoforms: expression in developing and failing heart.

PubMed ID: 8576938

DOI: 10.1016/S0022-2828(95)91587-7

Sequence Information:

  • Length: 250
  • Mass: 30151
  • Checksum: 975F687EB21B33D6
  • Sequence:
    • MSDIEEVVEE YEEEEQEEQE EAAEEDAEAE AETEETRAEE DEEEEEAKEA EDGPMEESKP 
KPRSFMPNLV PPKIPDGERV DFDDIHRKRM EKDLNELQAL IEAHFENRKK EEEELVSLKD 
RIERRRAERA EQQRIRNERE KERQNRLAEE RARREEEENR RKAEDEARKK KALSNMMHFG 
GYIQKAQTER KSGKRQTERE KKKKILAERR KVLAIDHLNE DQLREKAKEL WQSIYNLEAE 
KFDLQEKFKQ

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.