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Details of PPP2R2B gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| PPP2R2B | --- | Q00005 | 2ABB_HUMAN | 5521 | ENSG00000156475 | Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Spinocerebellar ataxia 12 (SCA12) [MIM:604326]: 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. SCA12 is an autosomal dominant cerebellar ataxia (ADCA). Note=The disease is caused by mutations affecting the gene represented in this entry. | 604326 | ||||||||
Phenotypes
Abnormal emotion/affect behavior, Abnormal fear/anxiety-related behavior, Abnormality of central motor function, Abnormality of coordination, Abnormality of extrapyramidal motor function, 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 pyramidal motor function, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the cerebrum, Abnormality of the eye, Abnormality of the face, Abnormality of the forebrain, 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, Action tremor, All, Anxiety, Aplasia/Hypoplasia involving the central nervous system, Ataxia, Atrophy/Degeneration affecting the central nervous system, Atrophy/Degeneration affecting the cerebrum, Autosomal dominant inheritance, Axial dystonia, Behavioural/Psychiatric Abnormality, Cerebellar atrophy, Cerebral atrophy, Cerebral cortical atrophy, Cognitive impairment, Delusions, Dementia, Depression, Dysarthria, Dysdiadochokinesis, Dysmetria, Dystonia, Facial myokymia, Head tremor, Hyperreflexia, Mental deterioration, Mode of inheritance, Morphological abnormality of the central nervous system, Myokymia, Neurological speech impairment, Onset, Onset and clinical course, Parkinsonism, Peripheral neuropathy, Phenotypic abnormality, Progressive cerebellar ataxia, Sensorimotor neuropathy, Tremor.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Ppp2r2b | tws | sur-6 | Sp-Pp2asB55 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| PPP2R2B | PPP2R1A | 0.281992849 | PPP2R2B | PPP2R1A | cpx24 | no | yes | yes | Known |
| PPP2R2B | PPP2CB | 0.709874138 | PPP2R2B | PPP2CB | cpx24 | no | yes | yes | Known |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|