ENSG00000148408
Homo sapiens | |
Features
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)
| O00555 / CACNA1A / calcium voltage-gated channel subunit alpha1 A | ENSG00000141837 | 65 | | Q15878 / CACNA1E / calcium voltage-gated channel subunit alpha1 E | ENSG00000198216 | 55 | | Q13936 / CACNA1C / calcium voltage-gated channel subunit alpha1 C | ENSG00000151067 | 36 | | Q01668 / CACNA1D / calcium voltage-gated channel subunit alpha1 D | ENSG00000157388 | 36 | | Q13698 / CACNA1S / calcium voltage-gated channel subunit alpha1 S | ENSG00000081248 | 33 | | O60840 / CACNA1F / calcium voltage-gated channel subunit alpha1 F | ENSG00000102001 | 33 | | NALCN / Q8IZF0 / sodium leak channel, non-selective | ENSG00000102452 | 16 | | Q8NEC5 / CATSPER1 / cation channel sperm associated 1 | ENSG00000175294 | 7 |
Protein motifs (from Interpro)
| IPR002048 | EF-hand domain | | IPR002077 | Voltage-dependent calcium channel, alpha-1 subunit | | IPR005447 | Voltage-dependent calcium channel, N-type, alpha-1 subunit | | IPR005821 | Ion transport domain | | IPR014873 | Voltage-dependent calcium channel, alpha-1 subunit, IQ domain | | IPR031649 | Voltage-dependent L-type calcium channel, IQ-associated domain |
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:0000473 | Torticollis | |
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| | HP:0001272 | Cerebellar atrophy | |
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| | HP:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] |
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| | HP:0001336 | Myoclonus | "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators] |
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| | HP:0001618 | Dysphonia | |
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| | HP:0002120 | Cerebral cortical atrophy | |
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| | HP:0002346 | Head tremor | |
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| | HP:0002356 | Writer s cramp | |
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| | HP:0002451 | Limb dystonia | |
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| | HP:0002530 | Axial dystonia | |
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| | HP:0003581 | Onset in adulthood | |
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| | HP:0003676 | Progressive disorder | |
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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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Interacting proteins (from Reactome)
| ENSG00000166862 | CACNG2 / Q9Y698 / calcium voltage-gated channel auxiliary subunit gamma 2 | / complex | | ENSG00000167535 | CACNB3 / P54284 / calcium voltage-gated channel auxiliary subunit beta 3 | / complex |
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