Details of SPTBN2 gene in Homo sapiens
IDs |
Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
| SPTBN2 | KIAA0302,SCA5 | O15020 | SPTN2_HUMAN | 6712 | ENSG00000173898 | Spectrin beta chain, non-erythrocytic 2 | SPROT |
Disease |
Disease |
OMIM id |
Spinocerebellar ataxia 5 (SCA5) [MIM:600224]: 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 degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA5 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder with variable age at onset, ranging between 10 and 50 years. Note=The disease is caused by mutations affecting the gene represented in this entry. |
600224 |
Phenotypes
Abnormality of central motor function, Abnormality of coordination, Abnormality of eye movement, Abnormality of facial musculature, Abnormality of facial soft tissue, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of movement, Abnormality of ocular smooth pursuit, Abnormality of pyramidal motor function, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the eye, Abnormality of the face, Abnormality of the head, Abnormality of the hindbrain, Abnormality of the metencephalon, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the peripheral nervous system, Age of onset, All, Ataxia, Autosomal dominant inheritance, Cerebellar atrophy, Dysarthria, Facial myokymia, Gait ataxia, Gait disturbance, Genetic anticipation, Hyperreflexia, Impaired smooth pursuit, Impaired vibratory sensation, Intention tremor, Juvenile onset, Limb ataxia, Mode of inheritance, Morphological abnormality of the central nervous system, Myokymia, Neurological speech impairment, Nystagmus, Onset, Onset and clinical course, Pace of progression, Peripheral neuropathy, Phenotypic abnormality, Sensory impairment, Slow progression, Tremor.
Orthologs in other species |
M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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