Metazoan complexes |
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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 | ATX2_HUMAN | 6311 | ENSG00000204842 | Ataxin-2 | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Spinocerebellar ataxia 2 (SCA2) [MIM:183090]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is characterized by hyporeflexia, myoclonus and action tremor and dopamine-responsive parkinsonism. In some patients, SCA2 presents as pure familial parkinsonism without cerebellar signs. Note=The disease is caused by mutations affecting the gene represented in this entry. SCA2 is caused by expansion of a CAG repeat resulting in about 36 to 52 repeats in some patients. Longer expansions result in earlier the expansion, onset of the disease. | 183090 | Amyotrophic lateral sclerosis 13 (ALS13) [MIM:183090]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5- 10% of the cases. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. An increased risk for developing amyotrophic lateral sclerosis seems to be conferred by CAG repeat intermediate expansions greater than 23 but below the threshold for developing spinocerebellar ataxia. | 183090 |
Phenotypes
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, Abnormal muscle tone, Abnormal retinal pigmentation, 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 | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Atxn2 | Atx2 | atx-2 | Sp-Sca2L |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
DDX5 | ATXN2 | 0.154833617 | DDX5 | ATXN2 | cpx45 | no | yes | no | Known |
KHDRBS1 | ATXN2 | 0.31710968 | KHDRBS1 | ATXN2 | cpx151; cpx45 | no | yes | no | Known |
KHDRBS2 | ATXN2 | 0.239819675 | KHDRBS2 | ATXN2 | cpx45 | no | yes | no | Known |
ATXN2L | ATXN2 | 0.031345035 | ATXN2L | ATXN2 | cpx151 | no | no | no | Novel |
KHDRBS3 | ATXN2 | 0.244584069 | KHDRBS3 | ATXN2 | cpx151; cpx45 | no | yes | no | Known |
ATXN2 | LSM12 | 0.846645892 | ATXN2 | LSM12 | cpx151 | no | no | no | Novel |