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

PPP2R5D - protein phosphatase 2 regulatory subunit B'delta Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as B56D; MRD35; B56delta

Gene ID: 5528 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

B56

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

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 602 a.a.
Protein Preferred Names Protein Names

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

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS11021 PPP2R5D Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source 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