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  2. PPP2R5D - protein phosphatase 2 regulatory subunit B'delta Gene

PPP2R5D - protein phosphatase 2 regulatory subunit B'delta Gene

中文名称:蛋白磷酸酶 2 调节亚基 B'delta

种属: Homo sapiens

同用名: B56D; MRD35; B56delta

基因 ID: 5528 | 基因类型: protein coding

关于 PPP2R5D

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:42,984,570-43,012,342 (from NCBI)

This gene has 10 transcripts (splice variants), 207 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 23.6), brain (RPKM 18.9) and 25 other tissues.

功能概要

该基因的产物属于磷酸酶 2A 调节亚基 B 家族。蛋白磷酸酶 2A 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 B56 亚家族的 delta 亚型。已经鉴定出编码不同亚型的选择性剪接转录物变体。[RefSeq 提供,2008 年 7 月]

The product of this gene belongs to the Phosphatase 2A regulatory subunit B family. Protein Phosphatase 2A 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 delta isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

PPP2R5D 基因产物(4)

mRNA Protein Name
NM_001270476.2 NP_001257405.1 serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform isoform 4
NM_006245.4 NP_006236.1 serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform isoform 1
NM_180976.3 NP_851307.1 serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform isoform 2
NM_180977.3 NP_851308.1 serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform isoform 3

PPP2R5D 蛋白结构

B56

B56: Protein phosphatase 2A regulatory B subunit (B56 family) (102 - 513)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 602 a.a.
蛋白主名 其他名称

serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, Autosomal Dominant 35

MRD35

Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome

Autosomal Dominant Non-Syndromic Intellectual Disability 35

Mental Retardation, Autosomal Dominant 35

Autosomal Dominant Intellectual Developmental Disorder 35

Autosomal Dominant Mental Retardation 35

Mental Retardation, Autosomal Dominant, Type 35

Encephalopathy

Brain Diseases

Encephalopathies

Toxic Encephalopathy

Toxic Brain Fever

Toxic Brain Inflammation

Toxic Brain Stem Inflammation

Toxic Cerebral Fever

Toxic Cerebrospinal Fever

Toxic Cerebrospinal Inflammation

Encephalopathy Nec

Encephalopathy Nos

Encephalopathy Disease

Encephalopathy Syndrome

Macrocephaly/Autism Syndrome

Macrocephaly-Autism Syndrome

Macrocephaly-Intellectual Disability-Autism Syndrome

MCEPHAS

Alzheimer Disease 8

Ad8

Alzheimer'S Disease 8

Alzheimer Disease, Familial, 8

Alzheimer Disease, Familial 8

Alzheimer'S Disease 8, Late Onset

Noonan Syndrome 4

NS4

Noonan Syndrome, Type 4

Intellectual Developmental Disorder, Autosomal Dominant 13

MRD13

Mental Retardation, Autosomal Dominant 13

Mental Retardation, Autosomal Dominant 13, With Neuronal Migration Defects

Autosomal Dominant Non-Syndromic Intellectual Disability 13

Autosomal Dominant Intellectual Developmental Disorder 13

Autosomal Dominant Mental Retardation 13

Mental Retardation, Autosomal Dominant, Type 13

Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria

Epilepsy, Myoclonic Juvenile

Juvenile Myoclonic Epilepsy

Janz Syndrome

Jme

Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

EJM

Myoclonic Epilepsy, Juvenile

Petit Mal, Impulsive

Myoclonic Epilepsy, Juvenile 1

Myoclonic Epilepsy, Juvenile, 1

Adolescent Myoclonic Epilepsy

Juvenile Myoclonus Epilepsy

Juvenile Myoclonic Epilepsy 1

EJM1

Petit Mal Impulsive

Susceptibility To Juvenile Myoclonic Epilepsy 1

Myoclonic Epilepsy Juvenile

Epilepsy, Myoclonic, Juvenile

Myoclonic Epilepsy Of Janz

Jme - [Juvenile Myoclonic Epilepsy]

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

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
Rattus norvegicus PPP2R5D RGD RGD:1306666
Felis catus PPP2R5D VGNC VGNC:69018
Macaca mulatta PPP2R5D VGNC VGNC:76380
Mus musculus PPP2R5D MGD MGI:2388481
Bos taurus PPP2R5D VGNC VGNC:33263
Canis familiaris PPP2R5D VGNC VGNC:44916