PPP2R2B - protein phosphatase 2 regulatory subunit Bbeta Gene
Also Known as PR52B; SCA12; B55BETA; PR55BETA; PP2ABBETA; PP2APR55B; PR2ABBETA; PR55-BETA; PP2AB55BETA; PR2AB55BETA; PP2APR55BETA; PR2APR55BETA
Species: Homo sapiens
About PPP2R2B
This gene has 21 transcripts (splice variants), 232 orthologues, 3 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 31.7), testis (RPKM 4.4) and 3 other tissues.
Summary
The product of this gene belongs to the Phosphatase 2 regulatory subunit B family. Protein Phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B55 subfamily. Defects in this gene cause autosomal dominant spinocerebellar ataxia 12 (SCA12), a disease caused by degeneration of the cerebellum, sometimes involving the brainstem and spinal cord, and in resulting in poor coordination of speech and body movements. Multiple alternatively spliced variants, which encode different isoforms, have been identified for this gene. The 5' UTR of some of these variants includes a CAG trinucleotide repeat sequence (7-28 copies) that can be expanded to 55-78 copies in cases of SCA12. [provided by RefSeq, Jul 2016]
PPP2R2B Products (8)
| mRNA | Protein | Name |
|---|---|---|
| NM_001271899.1 | NP_001258828.1 | serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform isoform g |
| NM_001271900.2 | NP_001258829.1 | serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform isoform f |
| NM_001271948.2 | NP_001258877.1 | serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform isoform d |
| NM_181674.3 | NP_858060.2 | serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform isoform a |
| NM_181675.4 | NP_858061.3 | serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform isoform e |
| NM_181676.3 | NP_858062.1 | serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform isoform b |
| NM_181677.2 | NP_858063.1 | serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform isoform c |
| NM_181678.2 | NP_858064.1 | serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform isoform d |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
17274953 | GOA |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform |
|
PPP2R2B Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
PPP2R2B | Q00005 | RPS6KB1 | Homo sapiens | P23443 | 21075311 | |
|
Intra
|
PPP2R2B | Q00005 | PPP2R1A | Homo sapiens | P30153 | 33961781 | |
|
Intra
|
PPP2R2B | Q00005 | PPP2R1A | Homo sapiens | P30153 | 19156129 | |
|
Intra
|
PPP2R2B | Q00005 | PPP2R1A | Homo sapiens | P30153 | 19156129 | |
|
Intra
|
PPP2R2B | Q00005 | PPP2R1A | Homo sapiens | P30153 | 21075311 | |
|
Intra
|
PPP2R2B | Q00005 | PDPK1 | Homo sapiens | O15530 | 21075311 | |
|
Intra
|
PPP2R2B | Q00005 | PDPK1 | Homo sapiens | O15530 | 21075311 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Spinocerebellar Ataxia 12 |
|
|
| Autosomal Dominant Cerebellar Ataxia |
|
|
| Hereditary Ataxia |
|
|
| Spinocerebellar Ataxia 17 |
|
|
| Dentatorubral-Pallidoluysian Atrophy |
|
|
| Tactile Agnosia |
|
|
| Huntington Disease-Like 2 |
|
|
| Dementia |
|
|
| Spinocerebellar Ataxia 40 |
|
|
| Spinocerebellar Ataxia 8 |
|
|
| Spinocerebellar Ataxia 10 |
|
|
| Friedreich Ataxia |
|
|
| Cerebellar Disease |
|
|
| X-Linked Hereditary Ataxia |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
|
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
|
| Holoprosencephaly 5 |
|
|
| Spinocerebellar Ataxia 6 |
|
|
| Spinocerebellar Ataxia 36 |
|
|
| Olivopontocerebellar Atrophy |
|
|
| Myotonic Dystrophy 2 |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
|
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
|
| Machado-Joseph Disease |
|
|
| Spinocerebellar Ataxia 1 |
|
|
| Episodic Ataxia |
|
|
| Myotonic Dystrophy 1 |
|
|
| Choreatic Disease |
|
|
| Spastic Ataxia |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | PPP2R2B | VGNC | VGNC:69012 |
| Macaca mulatta | PPP2R2B | VGNC | VGNC:76376 |
| Canis familiaris | PPP2R2B | VGNC | VGNC:44908 |
| Rattus norvegicus | PPP2R2B | RGD | RGD:631441 |
| Bos taurus | PPP2R2B | VGNC | VGNC:33256 |
| Mus musculus | PPP2R2B | MGD | MGI:1920180 |
| Others | PPP2R2B | NCBI |