Details of CHMP2B gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| CHMP2B | --- | Q9UQN3 | CHM2B_HUMAN | 25978
| Q9Y4U6
| 2JQK
2JQK | manifest as muscle |
Disease |
|---|
| Disease |
OMIM id |
| Frontotemporal dementia |
restlessness |
Amyotrophic lateral sclerosis 17 (ALS17) [MIM:614696]: An adult-onset progressive neurodegenerative disorder with predominantly lower motor neuron involvement |
bulbar signs |
Phenotypes
"Abnormal aggressive, Abnormal emotion/affect behavior, Abnormality of central motor function, Abnormality of higher mental function, Abnormality of movement, Abnormality of muscle physiology, Abnormality of pyramidal motor function, Abnormality of the bladder, Abnormality of the central nervous system, Abnormality of the cerebrum, Abnormality of the forebrain, Abnormality of the genitourinary system, Abnormality of the glial cells, Abnormality of the lower urinary tract, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the urinary system, Aggressive behavior, All, Apathy, Aplasia/Hypoplasia involving the central nervous system, Astrocytosis, Atrophy/Degeneration affecting the central nervous system, Atrophy/Degeneration affecting the cerebrum, Autosomal dominant inheritance, Babinski sign, Behavioural/Psychiatric Abnormality, Cerebral atrophy, Cerebral cortical atrophy, Cognitive impairment, Dementia, Disinhibition, Dyscalculia, Dyskinesia, Dystonia, Frontal release signs, Frontotemporal dementia, Functional abnormality of the bladder, Gait disturbance, Hyperorality, Hyperreflexia, Inappropriate behavior, Involuntary movements, Lack of insight, Loss of speech, Mental deterioration, Mode of inheritance, Morphological abnormality of the central nervous system, Mutism, Myoclonus, Neurological speech impairment, Neuronal loss in central nervous system, Onset, Onset and clinical course, Orofacial dyskinesia, Personality changes, Phenotypic abnormality, Restlessness, Rigidity, Specific learning disability, Stereotypic behavior, Urinary incontinence.
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
