Details of ATP1A2 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| ATP1A2 | KIAA0778 | P50993 | AT1A2_HUMAN | 477
| Q5JW74
| Q86UZ5 | Sodium/potassium-tra |
Disease |
|---|
| Disease |
OMIM id |
| Familial hemiplegic migraine 2 (FHM2) [MIM:602481]: A subtype of migraine with aura associated with hemiparesis in some families. Migraine is a disabling symptom complex of periodic headaches |
nausea |
Alternating hemiplegia of childhood 1 (AHC1) [MIM:104290]: A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing |
nystagmus |
Phenotypes
Abnormality of binocular vision, Abnormality of central motor function, Abnormality of eye movement, Abnormality of fluid regulation, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle physiology, Abnormality of pyramidal motor function, Abnormality of temperature regulation, Abnormality of the central nervous system, Abnormality of the cerebrum, Abnormality of the ear, Abnormality of the eye, Abnormality of the forebrain, Abnormality of the inner ear, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of vision, All, Aphasia, Apraxia, Autosomal dominant inheritance, Blurred vision, Cerebral edema, Chorea, Choreoathetosis, Cognitive impairment, Coma, Confusion, Diplopia, Drowsiness, Dysarthria, Dysphasia, Dystonia, Edema, Fever, Functional abnormality of the inner ear, Generalized seizures, Generalized tonic-clonic seizures, Headache, Hearing abnormality, Hearing impairment, Hemianopic blurring of vision, Hemiparesis, Hemiplegia, Hemiplegia/hemiparesis, Heterogeneous, Incomplete penetrance, Intellectual disability, Involuntary movements, Mental deterioration, Migraine, Migraine with aura, Mode of inheritance, Morphological abnormality of the central nervous system, Neurological speech impairment, Nystagmus, Onset and clinical course, Paralysis due to lesions of the principle motor tracts, Phenotypic abnormality, Phenotypic variability, Reduced consciousness/confusion, Seizures, Sensorineural hearing impairment, Tetraplegia, Vertigo, Vestibular dysfunction, Visual impairment.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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