ENSG00000129991
Homo sapiens | |
Features
| Gene ID: | ENSG00000129991 | | | | | Biological name : | TNNI3 | | | | | Synonyms : | P19429 / TNNI3 / troponin I3, cardiac type | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 19 | | Strand: | -1 | | Band: | q13.42 | | Gene start: | 55151767 | | Gene end: | 55157773 | | | | | Corresponding Affymetrix probe sets: | 205742_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000466729
Ensembl peptide - ENSP00000341838
Ensembl peptide - ENSP00000465258
NCBI entrez gene - 7137
See in Manteia.
OMIM - 191044
RefSeq - NM_000363
RefSeq Peptide - NP_000354
swissprot - Q6FGX2
swissprot - K7EJP0
swissprot - K7EN02
swissprot - P19429
Ensembl - ENSG00000129991
| | | | | Related genetic diseases (OMIM): | 115210 - Cardiomyopathy, familial restrictive, 1, 115210 | | | 611880 - ?Cardiomyopathy, dilated, 2A, 611880 | | | 613286 - Cardiomyopathy, dilated, 1FF, 613286 | | | 613690 - Cardiomyopathy, hypertrophic, 7, 613690 |
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:0000007 | Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct 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:0001425 | Heterogeneous | |
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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:0001644 | Dilated cardiomyopathy | |
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| | HP:0001714 | Ventricular hypertrophy | |
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| | HP:0001723 | Restrictive cardiomyopathy | |
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| | HP:0001874 | Abnormality of neutrophil | |
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| | HP:0002119 | Ventriculomegaly | |
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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:0003621 | Juvenile onset | |
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| | HP:0005110 | Atrial fibrillation | |
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| | HP:0011462 | Young adult onset | "Onset of disease at the age of between 15 and 40 years." [DDD:hfirth] |
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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 | | ENSG00000118194 | TNNT2 / P45379 / troponin T2, cardiac type | / complex | | ENSG00000130595 | TNNT3 / P45378 / troponin T3, fast skeletal type | / complex | | ENSG00000105048 | TNNT1 / P13805 / troponin T1, slow skeletal type | / complex | | ENSG00000072062 | P17612 / PRKACA / protein kinase cAMP-activated catalytic subunit alpha | / reaction | | ENSG00000101470 | TNNC2 / P02585 / troponin C2, fast skeletal type | / complex |
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