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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 | ENSG00000083937 | Charged multivesicular body protein 2b | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Frontotemporal dementia, chromosome 3-linked (FTD3) [MIM:600795]: Characterized by an onset of dementia in the late 50's initially characterized by behavioral and personality changes including apathy, restlessness, disinhibition and hyperorality, progressing to stereotyped behaviors, non-fluent aphasia, mutism and dystonia, with a marked lack of insight. The brains of individuals with FTD3 have no distinctive neuropathological features. They show global cortical and central atrophy, but no beta-amyloid deposits. Note=The disease is caused by mutations affecting the gene represented in this entry. | 600795 | Amyotrophic lateral sclerosis 17 (ALS17) [MIM:614696]: An adult-onset progressive neurodegenerative disorder with predominantly lower motor neuron involvement, manifest as muscle weakness and wasting of the upper and lower limbs, bulbar signs, and respiratory insufficiency. Note=The disease is caused by mutations affecting the gene represented in this entry. | 614696 | ||||||
Phenotypes
Abnormal aggressive, impulsive or violent behavior, 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 | ||||||
| Chmp2b | CHMP2B | C01A2.4 | Sp-Chmp2b... | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| CHMP2B | CHMP2A | 0.989356662 | CHMP2B | CHMP2A | cpx552 | yes | yes | no | Known |
| CHMP2B | CHMP4B | 0.994831759 | CHMP2B | CHMP4B | cpx351 | yes | yes | no | Known |