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  2. PPP2R2B - protein phosphatase 2 regulatory subunit Bbeta Gene

PPP2R2B - protein phosphatase 2 regulatory subunit Bbeta Gene

中文名称:蛋白磷酸酶 2 调节亚基 Bbeta

种属: Homo sapiens

同用名: PR52B; SCA12; B55BETA; PR55BETA; PP2ABBETA; PP2APR55B; PR2ABBETA; PR55-BETA; PP2AB55BETA; PR2AB55BETA; PP2APR55BETA; PR2APR55BETA

基因 ID: 5521 | 基因类型: protein coding

关于 PPP2R2B

Cytogenetic location: 5q32 Genomic coordinates (GRCh38): 5:146,580,742-147,081,520 (from NCBI)

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.

功能概要

该基因的产物属于磷酸酶 2 调节亚基 B 家族。蛋白磷酸酶 2 是四种主要的 Ser/Thr 磷酸酶之一,与细胞生长和分裂的负调控有关。它由一个共同的异聚核心酶组成,该核心酶由一个催化亚基和一个恒定的调节亚基组成,与多种调节亚基相关联。 B 调节亚基可能调节底物选择性和催化活性。该基因编码调节亚基 B55 亚家族的 β 亚型。该基因的缺陷导致常染色体显性遗传性脊髓小脑性共济失调 12 (SCA12) ,这是一种由小脑退化引起的疾病,有时累及脑干和脊髓,并导致言语和身体运动协调性差。已经为该基因鉴定了编码不同亚型的多个选择性剪接变体。其中一些变体的 5' UTR 包括 CAG 三核苷酸重复序列 (7-28 个拷贝) ,在 SCA12 的情况下可以扩展到 55-78 个拷贝。[RefSeq 提供,2016 年 7 月]

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 基因产物(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
蛋白主名 其他名称

serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform

protein phosphatase 2, regulatory subunit B, beta

关联疾病

疾病名称 别名
Spinocerebellar Ataxia 12

Spinocerebellar Ataxia Type 12

SCA12

Ataxia, Spinocerebellar, Type 12

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia

Adca

Pierre Marie Cerebellar Ataxia

Ataxia, Spinocerebellar

Sca

Autosomal Dominant Spinocerebellar Ataxia

Spinocerebellar Ataxias

Hereditary Ataxia

Sca

Spinocerebellar Ataxia

Ataxias Hereditary

Ataxias, Hereditary

Spinocerebellar Ataxia 17

Spinocerebellar Ataxia Type 17

SCA17

Huntington Disease-Like 4

Hdl4

Olivopontocerebellar Atrophy V

Cerebelloparenchymal Disorder Ii

Opca5

Cpd2

Sca 17

Ataxia, Spinocerebellar, Type 17

Dentatorubral-Pallidoluysian Atrophy

DRPLA

Naito-Oyanagi Disease

Haw River Syndrome

Myoclonic Epilepsy With Choreoathetosis

Nod

Ataxia, Chorea, Seizures, And Dementia

Dentatorubropallidoluysian Atrophy

Hrs

Naito Oyanagi Disease

Dentatorubral Pallidoluysian Atrophy

Dentatorubro-Pallidoluysian Atrophy

Myoclonic Epilepsies, Progressive

Atrophy, Pallidoluysian, Dentatorubral

Tactile Agnosia
Huntington Disease-Like 2

HDL2

Huntington'S Disease-Like 2

Huntington Disease-Like, Type 2

Dementia

Dementias

Presenile Dementia

Alzheimer Type Dementia

Alzheimer Sclerosis

Alzheimer Disease Dementia

Alzheimer Dementia

Primary Degenerative Alzheimer Type Dementia

End Stage Alzheimer'S Dementia

Alzheimer'S Type Atypical Dementia

Alzheimer Type Presenile Dementia

Early Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 2

Dementia In Alzheimer Disease With Early Onset

Early Onset Alzheimer Type Dementia, Uncomplicated

Primary Degenerative Alzheimer Type Dementia, Early Onset

Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

Alzheimer Disease Dementia With Early Onset

Presenile Sclerosis

Presenile Brain Sclerosis

Presenile Alzheimer Brain Sclerosis

Late Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 1

Dementia In Alzheimer Disease With Late Onset

Primary Degenerative Alzheimer Type Dementia, Late Onset

Sdat - [Senile Dementia, Alzheimer Type]

Alzheimer Disease Dementia With Late Onset

Late Onset Alzheimer Brain Sclerosis

Senile Alzheimer Brain Disease

Senile Alzheimer Brain Sclerosis

Senile Primary Degenerative Alzheimer Type Dementia

Senile Dementia Of The Alzheimer Type

Arteriosclerotic Dementia

Strategic-Infarct Dementia

Post Stroke Dementia

Vascular Cognitive Impairment

Vascular Dementia

Dementia Of The Lewy Body Type

Dementia With Lewy Bodies

Sdlt - [Senile Dementia Of The Lewy Body Type]

Senile Dementia Of The Lewy Body Type

Alcohol-Related Dementia

Alcoholic Dementia Nos

Alcohol-Induced Dementia

Alcoholic Brain Syndrome

Chronic Alcoholic Brain Syndrome

Alcohol Dementia

Late Onset Alcoholic Psychosis

Residual And Late-Onset Alcohol-Induced Psychotic Disorder

Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

Late-Onset Psychoactive Substance-Induced Psychotic Disorder

Inhalant Dementia

Volatile Solvents Dementia

Dementia In Paralysis Agitans

Pdd - [Parkinson Disease Dementia]

Dementia Syndrome Of Parkinson Disease

Dementia In Parkinson Disease

Parkinson Related Dementia

Dementia In Huntington Chorea

Hiv - [Human Immunodeficiency Virus] Dementia

Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

Aids Related Dementia

Dementia Due To Niacin Deficiency

Spinocerebellar Ataxia 40

Spinocerebellar Ataxia Type 40

SCA40

Ataxia, Spinocerebellar, Type 40

Spinocerebellar Ataxia 8

Spinocerebellar Ataxia Type 8

SCA8

Ataxia, Spinocerebellar, Type 8

Spinocerebellar Ataxia 10

Spinocerebellar Ataxia Type 10

SCA10

Spinocerebellar Ataxia-10

Ataxia, Spinocerebellar, Type 10

Friedreich Ataxia

Friedreich Ataxia 1

FRDA

Friedreich Ataxia With Retained Reflexes

Frda1

Fa

Friedreich'S Ataxia

Hereditary Spinal Ataxia

Fa1

Friedreich'S Tabes

Hereditary Spinal Sclerosis

Spinocerebellar Ataxia, Friedreich

Friedreich Spinocerebellar Ataxia

Friedrich'S Ataxia

Cerebellar Disease

Cerebellar Diseases

Cerebellar Dysfunction

Cerebellar Abnormality

Cerebellar Disorders

X-Linked Hereditary Ataxia
Spinocerebellar Ataxia, Autosomal Recessive 4

SCAR4

Scasi

Spinocerebellar Ataxia With Saccadic Intrusions

Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome

Spinocerebellar Ataxia 24

Autosomal Recessive Spinocerebellar Ataxia 4

Sca24

Spinocerebellar Ataxia 24, Formerly

Sca24, Formerly

Spinocerebellar Ataxia Autosomal Recessive 4

Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome

Fragile X-Associated Tremor/Ataxia Syndrome

Fxtas Syndrome

Fragile X Tremor/Ataxia Syndrome

Fxtas

Holoprosencephaly 5

HPE5

Holoprosencephaly-5

Holoprosencephaly, Type 5

Spinocerebellar Ataxia 6

Spinocerebellar Ataxia Type 6

SCA6

Type 6 Spinocerebellar Ataxia

Spinocerebellar Ataxia-6

Ataxia, Spinocerebellar, Type 6

Spinocerebellar Ataxia 36

Spinocerebellar Ataxia Type 36

SCA36

Asidan Ataxia

Costa De Morte Ataxia

Asidan

Ataxia, Spinocerebellar, Type 36

Olivopontocerebellar Atrophy

Thomas Syndrome

Olivopontocerebellar Atrophies

Dejerine-Thomas Syndrome

Thomas' Syndrome

Wadia-Swami Syndrome

Opca

Potter Sequence-Cleft Lip/Palate-Cardiopathy Syndrome

Spinocerebellar Ataxia Type 2

Myotonic Dystrophy 2

Myotonic Dystrophy Type 2

Proximal Myotonic Myopathy

Promm

Ricker Syndrome

DM2

Dystrophia Myotonica 2

Myotonic Myopathy, Proximal

Myotonic Disorders

Dystrophia Myotonica Type 2

Proximal Myotonic Dystrophy

Ricker Disease

Myotonic Dystrophy, Type 2

Dystrophy, Myotonic, Type 2

Spinocerebellar Ataxia, Autosomal Recessive 8

Arca1

Autosomal Recessive Cerebellar Ataxia Type 1

SCAR8

Autosomal Recessive Spinocerebellar Ataxia 8

Autosomal Recessive Ataxia, Beauce Type

Recessive Ataxia Of Beauce

Syne1-Related Autosomal Recessive Cerebellar Ataxia

Ataxia, Recessive, Of Beauce

Cerebellar Ataxia, Autosomal Recessive, Type 1

Spinocerebellar Ataxia Autosomal Recessive 8

Autosomal Recessive Ataxia Beauce Type

Spinocerebellar Ataxia, Autosomal Recessive, 8

Ataxia Recessive Of Beauce

Ataxia, Spinocerebellar, Autosomal Recessive, Type 8

Spinal And Bulbar Muscular Atrophy, X-Linked 1

Kennedy Disease

Sbma

Spinal And Bulbar Muscular Atrophy

Kennedy'S Disease

X-Linked Spinal And Bulbar Muscular Atrophy

SMAX1

Kd

Kennedy Spinal And Bulbar Muscular Atrophy

Spinobulbar Muscular Atrophy

Bulbospinal Muscular Atrophy, X-Linked

Bulbospinal Neuronopathy, X-Linked Recessive

Xbsn

Spinal And Bulbar Muscular Atrophy Of Kennedy

Bulbospinal Muscular Atrophy

X-Linked Bulbospinal Amyotrophy

Bulbo-Spinal Atrophy, X-Linked

Spinal Bulbar Muscular Atrophy

X-Linked Bulbo-Spinal Atrophy

X-Linked Spinal Bulbar Muscular Atrophy

X-Linked Bsma

X-Linked Bulbospinal Muscular Atrophy

Spinal And Bulbar Muscular Atrophy X-Linked 1

Bulbospinal Muscular Atrophy X-Linked

Bulbospinal Neuronopathy X-Linked Recessive

Kennedy Disease)

Kennedy Syndrome

Atrophy, Muscular, Spinal And Bulbar, Kennedy Type

Atrophy, Muscular, Spinobulbar

Bulbospinal Neuronopathy

Machado-Joseph Disease

SCA3

MJD

Spinocerebellar Ataxia 3

Azorean Disease

Spinocerebellar Ataxia Type 3

Spinocerebellar Atrophy

Azorean Neurologic Disease

Spinopontine Atrophy

Nigrospinodentatal Degeneration

Spinocerebellar Atrophy Iii

Spinocerebellar Atrophy Type 3

Azorean Ataxia

Azorean Disease Of The Nervous System

Machado Disease

Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia

Disease, Machado-Joseph

Ataxia, Spinocerebellar

Spinocerebellar Ataxia 1

Spinocerebellar Ataxia Type 1

SCA1

Olivopontocerebellar Atrophy I

Opca1

Opca4

Menzel Type Opca

Schut-Haymaker Type Opca

Spinocerebellar Atrophy I

Opca I

Olivopontocerebellar Atrophy Iv

Opca Iv

Cerebelloparenchymal Disorder I

Cpd1

Olivopontocerebellar Atrophy 1

Cerebelloparenchymal Disorder 1

Olivopontocerebellar Atrophy 4

Spinocerebellar Atrophy 1

Type 1 Spinocerebellar Ataxia

Spinocerebellar Ataxia-1

Ataxia, Spinocerebellar, Type 1

Episodic Ataxia

Isaacs Syndrome

Neuromyotonia

Isaacs' Syndrome

Acquired Neuromyotonia

Continuous Muscle Fiber Activity Syndrome

Quantal Squander Syndrome

Isaacs-Mertens Syndrome

Ea Syndrome

Episodic Ataxia Syndrome

Isaac Syndrome

Isaac'S-Merten'S Syndrome

Isaac-Mertens Syndrome

Peripheral Nerve Hyperexcitability

Ea

Peripheral Nerve Hyperexcitability Syndrome

Ataxia, Episodic

Isaacs Neuromyotonia

Continuous Muscle Fibre Activity

Myotonic Dystrophy 1

Myotonic Dystrophy

Dystrophia Myotonica

Steinert Disease

Myotonic Dystrophy Type 1

Myotonia Atrophica

DM1

Congenital Myotonic Dystrophy

Myotonia Dystrophica

Steinert Myotonic Dystrophy

Dystrophia Myotonica 1

Dm

Steinert'S Disease

Steinert Myotonic Dystrophy Syndrome

Myotonic Dystrophy Of Steinert

Dystrophia Myotonica Type 1

Myotonic Dystrophy Congenital

Dystrophy, Myotonic, Type 1

Dm - [Dystrophia Myotonica]

Myotonic Muscular Dystrophy

Choreatic Disease

Chorea

Hereditary Chorea

Spastic Ataxia

Spax

Ataxia, Spastic

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 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