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FLASH GENE

Symbol

PPP2R2B

contributors: mct - updated : 08-01-2017

HGNC name	protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform
HGNC id	9305

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SCA12 spinocerebellar ataxia 12
Location	5q32      Physical location : 145.969.069 - 146.461.033
Synonym name	PP2A, subunit B, B-beta isoform
	PP2A, subunit B, B55-beta isoform
Synonym symbol(s)	PP2AB55B, PR55 beta, PR2AB-BETA, PR2AB55-BETA, SCA12
EC.number	3.1.3.16

DNA

TYPE	functioning gene
STRUCTURE	491.97 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure

a polymorphic CAG repeat in the 5' utr promoter region

MAPPING

cloned

Y

linked

status

provisional

Map	cen - D5S436 - PPP2R2B - D5S470- qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004576 9 splicing 2300 NP_004567 - 443 - 2009 20017961 also called variant 1/isoform a regulatory subunit isoforms that determine cellular distribution of the neuron-specific holoenzyme to cytoplasm (Bbeta1) neuron-specific regulatory subunits of the protein phosphatase 2A (PP2A) holoenzyme an exclusively cytoplasmic protein NM_181674 10 splicing 2376 NP_858060 - 443 - 2009 20017961 also called variant 2/isoform a regulatory subunit isoforms that determine cellular distribution of the neuron-specific holoenzyme to mitochondria (Bbeta2) neuron-specific regulatory subunits of the protein phosphatase 2A (PP2A) holoenzyme in hippocampal neurons, cell stressors induced a rapid translocation of PP2A/Bbeta2 to mitochondria to promote apoptosis is normally localized to both cytosol and mitochondria NM_181675 10 - 2077 NP_858061 - 443 - 2006 16475161 also called variant 3/isoform a NM_181676 9 - 2182 NP_858062 - 446 - 2006 16475161 also called variant 4/isoform b NM_181677 11 - 2008 NP_858063 - 423 - 2006 16475161 also called variant 5/isoform c NM_181678 11 - 2021 NP_858064 - 432 - 2006 16475161 also called variant 6/isoform d NM_001127381 10 - 2097 NP_001120853 - 443 - - also called variant 7/isoform a

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain       specific Visual eye retina

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens Nervous Purkinje cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

heteromer , trimer

HOMOLOGY

interspecies

homolog to C.elegans F26e4.1

intraspecies

homolog to PPP2R2A,PPP2R2C

Homologene

FAMILY

phosphatase 2a regulator subunit b family

CATEGORY

enzyme , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,outer
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,cytoskeleton
text	neuronal cell bodies and dendrites
	can localize to mitochondria

basic FUNCTION	modulating substrate selectivity and catalytic subunit (subunit c)
	directing the localization of the catalytic enzyme to a particular subcellular compartment
	important regulator of phosphatase activity in the brain
	plays a crucial role in the maintenance of cell-cell adhesion through recruitment of IQGAP1 to the Rac-bound E-cadherin-catenins complex
	predisposes to neuronal death by promoting mitochondrial division and point to a possible imbalance of the mitochondrial morphogenetic equilibrium in the pathogenesis of SCA12
	outer mitochondrial PP2A holoenzyme that is a critical regulator of the mitochondrial morphogenetic equilibrium, and which determines the susceptibility of neurons to diverse injuries
	regulates the protein phosphatase 2A (PP2A) activity for dephosphorylation of tau and other substrates

CELLULAR PROCESS	cell cycle, division
	cell cycle, checkpoint
	cell life, proliferation/growth
	nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

text	muscle contraction; implicated in IR-induced activation of check points

PATHWAY

metabolism

signaling

sensory transduction/vision

a component

heterodimeric core enzyme, composed of a 36 kDa catalytic subunit (subunit C) and a 65 kDa constant regulatory subunit (pr65 or subunit A) and associating with a variety of regulatory subunits (including three families of subunit B)

INTERACTION

DNA

RNA

small molecule

protein	CREB1, SP1, and TFAP4 play roles in modulating PPP2R2B expression
	PPP2R2B protein interacts with the ACVRL1/TGFBR2/ENG complex and recruits PP2A to nitric oxide synthase 3 (NOS3)

cell & other

REGULATION

Other

CREB1, SP1, and TFAP4 play roles in modulating PPP2R2B expression

ASSOCIATED DISORDERS

corresponding disease(s)

SCA12

Susceptibility

to breast cancer to Alzheimer disease (AD)

Variant & Polymorphism SNP , repeat	A variant of the rs319217 SNP is a marker of better prognosis in breast cancer
	CAG repeat lengths in the PPP2R2B gene may be potential genetic markers for AD susceptibility in the Japanese population

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS