ENSG00000114854
Homo sapiens | |
Features
| Gene ID: | ENSG00000114854 | | | | | Biological name : | TNNC1 | | | | | Synonyms : | P63316 / TNNC1 / troponin C1, slow skeletal and cardiac type | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 3 | | Strand: | -1 | | Band: | p21.1 | | Gene start: | 52451102 | | Gene end: | 52454070 | | | | | Corresponding Affymetrix probe sets: | 209904_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000232975
Ensembl peptide - ENSP00000420596
NCBI entrez gene - 7134
See in Manteia.
OMIM - 191040
RefSeq - NM_003280
RefSeq Peptide - NP_003271
swissprot - C9JDI3
swissprot - P63316
swissprot - Q6FH91
Ensembl - ENSG00000114854
| | | | | Related genetic diseases (OMIM): | 611879 - Cardiomyopathy, dilated, 1Z, 611879 | | | 613243 - Cardiomyopathy, hypertrophic, 13, 613243 |
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:0001639 | Hypertrophic cardiomyopathy | |
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| | HP:0001644 | Dilated cardiomyopathy | |
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| | HP:0001663 | Ventricular fibrillation | |
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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:0011711 | Left anterior fascicular block | "Conduction block in the anterior division of the left bundle branch of the bundle of His." [DDD:dbrown] |
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| | HP:0011712 | Right bundle branch block | "A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG." [DDD:dbrown, HPO:probinson] |
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| | HP:0100578 | Lipoatrophy | "Localized loss of fat tissue." [HPO:sdoelken] |
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| | HP:0100749 | Chest pain | |
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Interacting proteins (from Reactome)
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