Details of ATXN2 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| ATXN2 | ATX2 | SCA2 | TNRC13 | Q99700
| A6NLD4
| Q6ZQZ7 | Ataxin-2 |
Phenotypes
Abnormal muscle tone, Abnormal retinal pigmentation, Abnormality of central motor function, Abnormality of coordination, Abnormality of extrapyramidal motor function, Abnormality of eye movement, Abnormality of higher mental function, Abnormality of movement, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of ocular smooth pursuit, Abnormality of pyramidal motor function, Abnormality of saccadic eye movements, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the bladder, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the cerebral ventricles, Abnormality of the esophagus, Abnormality of the eye, Abnormality of the fourth ventricle, Abnormality of the fundus, Abnormality of the gastrointestinal tract, Abnormality of the genitourinary system, Abnormality of the hindbrain, Abnormality of the lower urinary tract, Abnormality of the metencephalon, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the peripheral nervous system, Abnormality of the posterior segment of the eye, Abnormality of the retina, Abnormality of the retinal pigment epithelium, Abnormality of the spinal cord, Abnormality of the spinocerebellar tracts, Abnormality of the urinary system, All, Amyotrophy, Apraxia, Ataxia, Autosomal dominant inheritance, Bradykinesia, Cognitive impairment, Dementia, Dilated fourth ventricle, Distal amyotrophy, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysmetric saccades, Dysphagia, Fasciculations, Functional abnormality of the bladder, Gaze-evoked nystagmus, Genetic anticipation, Hypertonia, Hyporeflexia, Impaired horizontal smooth pursuit, Impaired smooth pursuit, Impaired vibratory sensation, Involuntary movements, Limb ataxia, Mental deterioration, Mode of inheritance, Morphological abnormality of the central nervous system, Muscular hypotonia, Myoclonus, Neurological speech impairment, Nystagmus, Oculomotor apraxia, Olivopontocerebellar atrophy, Ophthalmoparesis, Ophthalmoplegia, Parkinsonism, Peripheral neuropathy, Phenotypic abnormality, Postural instability, Progressive cerebellar ataxia, Reduced tendon reflexes, Retinitis pigmentosa, Rigidity, Sensory impairment, Slow saccadic eye movements, Spasticity, Spinocerebellar tract degeneration, Urinary bladder sphincter dysfunction, Ventriculomegaly.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
Fatal error: Uncaught TypeError: count(): Argument #1 ($var) must be of type Countable|array, string given in /var/www/html/dbin/cnsb/metazoa/php/gene_details.php:895
Stack trace:
#0 {main}
thrown in /var/www/html/dbin/cnsb/metazoa/php/gene_details.php on line 895
