ENSG00000118194
Homo sapiens | |
Features
| Gene ID: | ENSG00000118194 | | | | | Biological name : | TNNT2 | | | | | Synonyms : | P45379 / TNNT2 / troponin T2, cardiac type | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 1 | | Strand: | -1 | | Band: | q32.1 | | Gene start: | 201359008 | | Gene end: | 201377762 | | | | | Corresponding Affymetrix probe sets: | 1563655_at (Human Genome U133 Plus 2.0 Array) 215389_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000387874
Ensembl peptide - ENSP00000356291
Ensembl peptide - ENSP00000395163
Ensembl peptide - ENSP00000422031
Ensembl peptide - ENSP00000414036
Ensembl peptide - ENSP00000408731
Ensembl peptide - ENSP00000404134
Ensembl peptide - ENSP00000402238
Ensembl peptide - ENSP00000236918
Ensembl peptide - ENSP00000353535
Ensembl peptide - ENSP00000356284
Ensembl peptide - ENSP00000356286
Ensembl peptide - ENSP00000356287
Ensembl peptide - ENSP00000356289
NCBI entrez gene - 7139
See in Manteia.
OMIM - 191045
RefSeq - XM_017002217
RefSeq - NM_001001432
RefSeq - NM_001276345
RefSeq - NM_001276346
RefSeq - NM_001276347
RefSeq - XM_006711508
RefSeq - XM_006711509
RefSeq - XM_011509938
RefSeq - XM_011509939
RefSeq - XM_011509940
RefSeq - XM_011509941
RefSeq - XM_011509942
RefSeq - XM_011509943
RefSeq - XM_011509944
RefSeq - XM_011509946
RefSeq - XM_017002216
RefSeq - NM_000364
RefSeq - NM_001001430
RefSeq - NM_001001431
RefSeq Peptide - NP_001001431
RefSeq Peptide - NP_001001432
RefSeq Peptide - NP_001263274
RefSeq Peptide - NP_001263275
RefSeq Peptide - NP_001263276
RefSeq Peptide - NP_000355
RefSeq Peptide - NP_001001430
swissprot - A0A0A0MRJ4
swissprot - E7EPW4
swissprot - E7EPN8
swissprot - C9JM61
swissprot - C9JDF8
swissprot - A0A0A0MRJ5
swissprot - P45379
swissprot - Q7Z554
Ensembl - ENSG00000118194
| | | | | Related genetic diseases (OMIM): | 115195 - Cardiomyopathy, hypertrophic, 2, 115195 | | | 601494 - Cardiomyopathy, dilated, 1D, 601494 | | | 612422 - Cardiomyopathy, familial restrictive, 3, 612422 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| | HP:0000982 | Palmoplantar keratoderma | |
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| | HP:0001635 | Congestive heart failure | "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators] |
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| | HP:0001638 | Cardiomyopathy | |
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| | HP:0001639 | Hypertrophic cardiomyopathy | |
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| | HP:0001644 | Dilated cardiomyopathy | |
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| | HP:0001699 | Sudden death | |
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| | HP:0001712 | Left ventricular hypertrophy | |
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| | HP:0001874 | Abnormality of neutrophil | |
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| | HP:0003198 | Myopathy | |
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| | HP:0003236 | Elevated serum creatine phosphokinase | |
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| | HP:0003457 | Abnormal EMG findings | "Abnormal results of investigations using electromyography (EMG)." [HPO:curators] |
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| | HP:0005110 | Atrial fibrillation | |
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| | HP:0030682 | Left ventricular noncompaction | "Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer." [PMID:16670098, PMID:25443708] |
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| | HP:0100578 | Lipoatrophy | "Localized loss of fat tissue." [HPO:sdoelken] |
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Interacting proteins (from Reactome)
| ENSG00000114854 | TNNC1 / P63316 / troponin C1, slow skeletal and cardiac type | / complex | | ENSG00000130598 | TNNI2 / P48788 / troponin I2, fast skeletal type | / complex | | ENSG00000159173 | TNNI1 / P19237 / troponin I1, slow skeletal type | / complex | | ENSG00000129991 | TNNI3 / P19429 / troponin I3, cardiac type | / complex | | ENSG00000101470 | TNNC2 / P02585 / troponin C2, fast skeletal type | / complex |
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