ENSG00000159251
Homo sapiens | |
Features
| Gene ID: | ENSG00000159251 | | | | | Biological name : | ACTC1 | | | | | Synonyms : | ACTC1 / actin, alpha, cardiac muscle 1 / P68032 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 15 | | Strand: | -1 | | Band: | q14 | | Gene start: | 34788096 | | Gene end: | 34796139 | | | | | Corresponding Affymetrix probe sets: | 205132_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000290378
NCBI entrez gene - 70
See in Manteia.
OMIM - 102540
RefSeq - NM_005159
RefSeq Peptide - NP_005150
swissprot - P68032
Ensembl - ENSG00000159251
| | | | | Related genetic diseases (OMIM): | 612098 - Cardiomyopathy, hypertrophic, 11, 612098 | | | 612794 - Atrial septal defect 5, 612794 | | | 613424 - Cardiomyopathy, dilated, 1R, 613424 |
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:0001631 | Atrial septal defect | "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators] |
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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:0001639 | Hypertrophic cardiomyopathy | |
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| | HP:0001644 | Dilated cardiomyopathy | |
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| | HP:0001712 | Left ventricular hypertrophy | |
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| | HP:0001723 | Restrictive cardiomyopathy | |
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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:0004308 | Ventricular arrhythmia | |
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| | HP:0011675 | Arrhythmia | "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792] |
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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)
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