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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PPP2R2B Gene

protein-coding GIFtS: 66
GCID: GC05M145969

protein phosphatase 2, regulatory subunit B, beta

(Previous names: spinocerebellar ataxia 12, protein phosphatase 2 (formerly...)
(Previous symbol: SCA12)

Explore 28 diseases affiliated with
PPP2R2B via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Protein Phosphatase 2, Regulatory Subunit B, Beta¹ ²		PP2ABBETA²
PR52B¹ ²		PP2APR55B²
PR55-BETA¹ ²		PP2APR55BETA²
SCA12¹ ²		PR2AB55BETA²
Protein Phosphatase 2 (Formerly 2A), Regulatory Subunit B (PR 52), Beta Isoform¹ ²		PR2ABBETA²
Protein Phosphatase 2 (Formerly 2A), Regulatory Subunit B, Beta Isoform¹ ²		PR2APR55BETA²
PP2A Subunit B Isoform B55-Beta² ³		PR55BETA²
PP2A Subunit B Isoform PR55-Beta² ³		PP2A, Subunit B, B-Beta Isoform²
PP2A Subunit B Isoform R2-Beta² ³		Serine/Threonine Protein Phosphatase 2A, 55 KDa Regulatory Subunit B, Beta Isoform²
Spinocerebellar Ataxia 12¹		Serine/Threonine Protein Phosphatase 2A, Neuronal Isoform²
B55BETA²		Serine/Threonine-Protein Phosphatase 2A 55 KDa Regulatory Subunit B Beta Isoform²
PP2AB55BETA²		PP2A Subunit B Isoform Beta³

External Ids:	HGNC: 9305¹	Entrez Gene: 5521²	Ensembl: ENSG00000156475⁷	OMIM: 604325⁵	UniProtKB: Q00005³

Export aliases for PPP2R2B gene to outside databases

Previous GC identifers: GC05M145936 GC05M146549 GC05M145997 GC05M145949 GC05M141115

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PPP2R2B:

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 66-78

copies in cases of SCA12. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: 2ABB_HUMAN, Q00005

Function: The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct

the localization of the catalytic enzyme to a particular subcellular compartment. Within the PP2A holoenzyme complex,

isoform 2 is required to promote proapoptotic activity (By similarity). Isoform 2 regulates neuronal survival through

the mitochondrial fission and fusion balance (By similarity)

summary for PPP2R2B:

Protein ser/thr phosphatases are a group of enzymes that catalyze the removal of phosphate groups from

serine and/or threonine residues by the hydrolysis of phosphoric acid monoesters. They directly oppose the

actions of kinases and phosphorylases and therefore play an integral role in many signal transduction

pathways. There are two groups of serine/threonine phosphatases; phosphoprotein phosphatases (e.g. PP1,

calcineurin), which are sensitive to okadaic acid and metallo-phosphatases (e.g. PP2C), which require a

divalent cation, commonly Mg2+, for catalytic activity. Dephosphorylation, depending on the residue that the

phosphate group is removed from, can have a stimulatory or inhibitory effect on the target molecule. This

makes protein Ser/Thr phosphatases essential for many signal transduction pathways. Protein Ser/Thr

phosphatase are regulated by their subcellular localization and by inhibitor proteins, which are

subtype-specific.

Gene Wiki entry for PPP2R2B

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_029289.11

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PPP2R2B gene promoter:
TBP
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): PPP2R2B promoter sequence

Search SABiosciences Chromatin IP Primers for PPP2R2B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PPP2R2B

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q32 Ensembl cytogenetic band: 5q32 HGNC cytogenetic band: 5q32

PPP2R2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PPP2R2B gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05M145969: view genomic region (about GC identifiers)

Start:	145,967,936 bp from pter	End:	146,464,347 bp from pter
Size:	496,412 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: 2ABB_HUMAN, Q00005 (See protein sequence)

Recommended Name: Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform

Size: 443 amino acids; 51710 Da

Subunit: PP2A consists of a common heterodimeric core enzyme, composed of a 36 kDa catalytic subunit (subunit C) and a

65 kDa constant regulatory subunit (PR65 or subunit A), that associates with a variety of regulatory subunits.

Proteins that associate with the core dimer include three families of regulatory subunits B (the R2/B/PR55/B55,

R3/B''/PR72/PR130/PR59 and R5/B'/B56 families), the 48 kDa variable regulatory subunit, viral proteins, and cell

signaling molecules

Subcellular location: Isoform 1: Cytoplasm (By similarity). Cytoplasm, cytoskeleton (By similarity). Membrane (By

similarity)

Subcellular location: Isoform 2: Cytoplasm (By similarity). Mitochondrion (By similarity). Mitochondrion outer membrane

(By similarity). Note=Under basal conditions, localizes to both cytosolic and mitochondrial compartments. Relocalizes

from the cytosolic to the mitochondrial compartment during apoptosis. Its targeting to the outer mitochondrial

membrane (OMM) involves an association with import receptors of the TOM complex and is required to promote

proapoptotic activity (By similarity)

Sequence caution: Sequence=AAH31790.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=BAG51642.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAG51642.1;

Type=Erroneous termination; Positions=116; Note=Translated as Lys;

Secondary accessions: A6NEJ2 A8K102 B3KPD0 B7Z2F2 B7Z304 D3DQF7 D3DQF8 G3V149

Alternative splicing: 7 isoforms: Q00005-1 Q00005-2 Q00005-3 Q00005-4 Q00005-5 Q00005-6 Q00005-7 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PPP2R2B: NX_Q00005

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q00005

PPP2R2B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (10 alternative transcripts):

NP_001120853.1 NP_001258828.1 NP_001258829.1 NP_001258877.1 NP_004567.1 NP_858060.2 NP_858061.2 NP_858062.1

NP_858063.1 NP_858064.1

ENSEMBL proteins:

ENSP00000377935 ENSP00000431320 ENSP00000377936 ENSP00000377933 ENSP00000336591

ENSP00000421396 ENSP00000426599 ENSP00000425828 ENSP00000429184 ENSP00000433890

ENSP00000421577 ENSP00000424409 ENSP00000434497 ENSP00000421224 ENSP00000425413

ENSP00000377931 ENSP00000349283 ENSP00000398779 ENSP00000377932

Human Recombinant Protein Products:

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	Novus Biologicals PPP2R2B Proteins Novus Biologicals PPP2R2B Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000159	protein phosphatase type 2A complex	IEA	--
GO:0005739	mitochondrion	ISS	--
GO:0005741	mitochondrial outer membrane	ISS	--
GO:0005829	cytosol	IEA	--
GO:0005856	cytoskeleton	IEA	--

PPP2R2B for ontologies About GeneDecksing

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Assay Products for PPP2R2B:

	Browse Kits and Assays available from EMD Millipore
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	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PPP2R2B for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR000009 PP2A_PR55

IPR019775 WD40_repeat_CS

IPR018067 PP2A_PR55_CS

IPR001680 WD40_repeat

IPR017986 WD40_repeat_dom

Graphical View of Domain Structure for InterPro Entry Q00005

ProtoNet protein and cluster: Q00005

1 Blocks protein family: IPB000009 Protein phosphatase 2A regulatory subunit PR55

UniProtKB/Swiss-Prot: 2ABB_HUMAN, Q00005

Domain: The N-terminal 26 residues of isoform 2 constitute a cryptic mitochondrial matrix import signal with critical

basic and hydrophobic residues, that is necessary and sufficient for targeting the PP2A holoenzyme to the outer

mitochondrial membrane (OMM) and does not affect holoenzyme formation or catalytic activity (By similarity)

Domain: The last WD repeat of isoform 2 constitutes a mitochondrial stop-transfer domain that confers resistance to the

unfolding step process required for import and therefore prevents PPP2R2B matrix translocation and signal sequence

cleavage (By similarity)

Similarity: Belongs to the phosphatase 2A regulatory subunit B family

Similarity: Contains 7 WD repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: 2ABB_HUMAN, Q00005

Function: The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct

the localization of the catalytic enzyme to a particular subcellular compartment. Within the PP2A holoenzyme complex,

isoform 2 is required to promote proapoptotic activity (By similarity). Isoform 2 regulates neuronal survival through

the mitochondrial fission and fusion balance (By similarity)

Genatlas biochemistry entry for PPP2R2B:

protein phosphatase 2A,regulating subunit 3,beta isoform specifically expressed in brain (PR53) with a polymorphic CAG

repeat in the 5'utr promoter region

miRNA Products:		OriGene 3'-UTR Clone (see all 7): PPP2R2B Browse MicroRNA Expression Plasmids
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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PPP2R2B

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	--
GO:0008601	protein phosphatase type 2A regulator activity	IEA	--
GO:0032403	protein complex binding	IEA	--

PPP2R2B for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for PPP2R2B:

Increased apoptosis

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/29 super-pathways (see all 29) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

p70S6K Signaling

	p70S6K Signaling	1.00			mTOR Pathway	0.54
	Renin-Angiotensin Pathway	0.60

Erythropoietin Pathway

	Erythropoietin Pathway	1.00			CDK5 Pathway	0.21
	Beta-Adrenergic Signaling	0.37

Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling

Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling

1.00

Neurophysiological process_Glutamate regulation of Dopamine D1A receptor signaling

0.98

Cell cycle Regulation of G1/S transition (part 1)

Cell cycle Regulation of G1/S transition (part 1)

1.00

Cell cycle_Regulation of G1/S transition (part 1)

0.98

Cyclins and Cell Cycle Regulation

Cyclins and Cell Cycle Regulation

1.00

Cell Cycle Control by BTG Proteins

0.36

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for PPP2R2B

	Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling
	Cell cycle Regulation of G1/S transition (part 1)
	Signal transduction PKA signaling

5/25 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PPP2R2B (see all 25)

	Cell Cycle Control by BTG Proteins
	Telomerase Components in Cell Signaling
	CDK5 Pathway
	mTOR Pathway
	Cyclins and Cell Cycle Regulation

4 GeneGo (Thomson Reuters) Pathways for PPP2R2B

	Signal transduction PKA signaling
	Cell cycle Regulation of G1/S transition (part 1)
	Regulation of CFTR activity (norm and CF)
	Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling

3 BioSystems Pathways for PPP2R2B

	Wnt Signaling Pathway and Pluripotency
	Glycogen Metabolism
	IL-6 Signaling Pathway

4 Kegg Pathways (Kegg details for PPP2R2B):

	mRNA surveillance pathway
	Tight junction
	Chagas disease (American trypanosomiasis)
	Hepatitis C

PPP2R2B for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for PPP2R2B

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/290 Interacting proteins for PPP2R2B (Q00005^{1, 3} ENSP00000336591⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 290)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PDPK1	O15530¹^,³, ENSP00000344220⁴	EBI-1052159,EBI-717097 I2D: score=1 STRING: ENSP00000344220
RPS6KB1	P23443¹^,³, ENSP00000225577⁴	EBI-1052159,EBI-1775921 I2D: score=1 STRING: ENSP00000225577
CALM1	P62158³, ENSP00000349467⁴	I2D: score=1 STRING: ENSP00000349467
CALM2	P62158³	I2D: score=1
CALM3	P62158³	I2D: score=1

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006626	protein targeting to mitochondrion	IEA	--
GO:0006915	apoptotic process	--	--
GO:0007165	signal transduction	IEA	--
GO:0007286	spermatid development	IEA	--
GO:0007420	brain development	IEA	--

PPP2R2B for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

EMD Millipore small molecules for PPP2R2B:
Small Molecule - inhibitor

Browse drugs & compounds from Enzo Life Sciences

Compounds for PPP2R2B available from Tocris Bioscience About this table

Compound	Action	CAS #
Cantharidin	Protein phosphatase 1 and 2A inhibitor	[56-25-7]
Okadaic acid	Protein phosphatase 1 and 2A inhibitor	[78111-17-8]
Calyculin A	Protein phosphatase 1 and 2A inhibitor	[101932-71-2]
Fostriecin sodium salt	Potent PP2A and PP4 inhibitor	[87860-39-7]

Search CenterWatch for drugs/clinical trials and news about PPP2R2B / 2ABB

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PPP2R2B gene (10 alternative transcripts):

NM_001127381.1 NM_001271899.1 NM_001271900.1 NM_001271948.1 NM_004576.2 NM_181674.2 NM_181675.3 NM_181676.2

NM_181677.2 NM_181678.2

Unigene Cluster for PPP2R2B:

Protein phosphatase 2, regulatory subunit B, beta

Hs.655213 [show with all ESTs]

Unigene Representative Sequence: M64930

18/23 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):

ENST00000394413(uc010jgm.3 uc003loe.3) ENST00000530902(uc003lof.4)

ENST00000508545 ENST00000394414 ENST00000394411(uc003log.4) ENST00000336640

ENST00000504198(uc011dbv.2 uc011dbu.2) ENST00000512639 ENST00000512984

ENST00000522831 ENST00000528601 ENST00000515880 ENST00000512011 ENST00000532154

ENST00000502876 ENST00000508267 ENST00000504565 ENST00000509721

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Additional cDNA sequence:

AK056192.1 AK289717.1 AK294659.1 AK295347.1 AK314810.1 BC031790.1 BX647887.1 M64930.1

NR_073526.1 NR_073527.1

22 DOTS entries:

DT.95102002 DT.100747942 DT.313805 DT.91718449 DT.95102005 DT.100777757 DT.120873081 DT.91718452

DT.120873230 DT.91913760 DT.100648198 DT.100778238 DT.120873231 DT.100777761 DT.120872993 DT.120873064

DT.120873093 DT.120873187 DT.120873188 DT.120873239 DT.99983070 DT.40293703

24/100 AceView cDNA sequences (see all 100):

BX452633 BI824211 BM805544 BM697553 NM_181675 F09344 NM_181678 AV726282

BX464346 BI544441 BI546495 BM663616 BC031790 CR607404 NM_181674 N48957

NM_004576 NM_181676 BM544542 NM_181677 BM703527 M64930 AV727132 BQ892365

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for PPP2R2B About this scheme

ExUns:	1	^	2a	·	2b	·	2c	^	3a	·	3b	^	4a	·	4b	^	5	^	6	^	7	^	8	^	9	^	10	^	11a	·	11b
SP1:							-		-
SP2:									-
SP3:			-		-		-		-
SP4:
SP5:			-		-		-		-		-

ECgene alternative splicing isoforms for PPP2R2B

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PPP2R2B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACAGGCTCCT

About this image

PPP2R2B expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

5 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

GABAergic Amacrine Cells

Amacrine, Retina

Eye

Outer Nuclear Layer

Mature Rod Cells

Photoreceptors, Retina

Limb

Zeugopod

Mesenchymal Condensate Cells

Bone, Cartilage

Neural Tube

Spinal Neural Tube Cells

Neural Ectoderm

Spinal Cord

Presumptive Spinal Cord

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 4 LifeMap Cells

Name

Category

PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)

PureStem™ progenitor SK17 (Embryonic Progenitor Cell)

CyT49 (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Line H9 (WA09) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

See PPP2R2B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PPP2R2B

SOURCE GeneReport for Unigene cluster: Hs.655213

UniProtKB/Swiss-Prot: 2ABB_HUMAN, Q00005

Tissue specificity: Brain

SABiosciences Expression via Pathway-Focused PCR Arrays including PPP2R2B:

mTOR Signaling in human mouse rat

Telomeres & Telomerase in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for PPP2R2B gene from 9/28 species (see all 28) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ppp2r2b^{1 , 5}	protein phosphatase 2 (formerly 2A), regulatory subunit more^{1, 5}	94.43(n)¹ 100(a)¹		18 (22.75 cM)⁵ 72930¹ NM_027531.1¹ NP_081807.1¹ 42637432⁵
chicken (Gallus gallus)	Aves	PPP2R2B¹	protein phosphatase 2, regulatory subunit B, beta	84.28(n) 98.1(a)		416350 XM_414666.3 XP_414666.2
lizard (Anolis carolinensis)	Reptilia	PPP2R2B⁶	--	96(a)	1 ↔ 1	GL343234.1(265692-345846)
African clawed frog (Xenopus laevis)	Amphibia	ppp2r2b-A-prov²	phosphatase 2 (formerly 2A), regulatory subunit B (PR more	83.42(n)		AB000406.1
zebrafish (Danio rerio)	Actinopterygii	ppp2r2bb¹	protein phosphatase 2, regulatory subunit B, beta b	78.03(n) 93.23(a)		558810 NM_001030122.2 NP_001025293.2
fruit fly (Drosophila melanogaster)	Insecta	tws³	imaginal disc pattern formation protein phosphatase more	79(a)		85F13 --
worm (Caenorhabditis elegans)	Secernentea	sur-6⁶	SUppressor of activated let-60 Ras family member (...	58(a)	1 → many	I(9754111-9757889)
thale cress (Arabidopsis thaliana)	eudicotyledons	ATB BETA⁶ B ALPHA⁶	Protein phosphatase 2A, regulatory subunit PR55 protein phosphatase 2 (formerly 2A), regulatory su...	48(a) 38(a)	possible ortholog possible ortholog	1(6093208-6098383) 1(19164063-19170449)
rice (Oryza sativa)	Liliopsida	-- -- (see all 4)	serine/threonine protein phosphatase 2A 55 kDa reg... serine/threonine protein phosphatase 2A 55 kDa reg... (see all 4)	47(a) 47(a) (see all 4)	possible ortholog possible ortholog (see all 4)	1(23568735-23575500) 6(21653900-21661474)

ENSEMBL Gene Tree for PPP2R2B (if available)
TreeFam Gene Tree for PPP2R2B (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for PPP2R2B gene

PPP2R2D² PPP2R2C² PPP2R2A²

3 SIMAP similar genes for PPP2R2B using alignment to 9 protein entries: 2ABB_HUMAN (see all proteins):

PPP2R2A PPP2R2C PPP2R2D

PPP2R2B for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs1062734^1,2	C,H	--	141115507(-)	`TTTTTC/TTCTTC`	7	--	int¹ ds500¹		1		NS	226
rs4082068^1,2	C,H	--	141115586(+)	`GCAGCA/TGATGG`	7	--	ds500¹ int¹		4		NS EA	418
rs112470770^1,2	C,	--	141116206(+)	`TGGACC/TCCTTT`	7	--	ut3¹		1		NA	2
rs76275304^1,2		--	141117100(+)	`CTTCAC/TGGCAT`	7	--	int¹		0	--	--	--	--
rs76962506^1,2		--	141117536(+)	`TGGTTC/TCCCTG`	7	--	int¹		2		CSA WA	120
rs322470^1,2	C,F,H,	--	141117706(-)	`GACAAC/TGTGCC`	7	--	int¹		15		NA EA NS WA CSA	1034
rs9325018^1,2	C,F,H,	--	141117787(+)	`GTGTCT/GGTGTA`	7	--	int¹		6		NS EA CSA WA	538
rs77806345^1,2		--	141118322(+)	`GTGTAC/TGAATG`	7	--	int¹		2		CSA WA	120
rs75240479^1,2		--	141118372(+)	`GAATCA/GAGGCT`	7	--	int¹		1		WA	118
rs78905242^1,2	F,	--	141118734(+)	`ACACTA/GTTATT`	7	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for PPP2R2B (145967936 - 146217936 bp, first 250kb of PPP2R2B)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for PPP2R2B
5 CNVs: 2605 69215 51587 36354 69214
1 Indel: 69216
Human Gene Mutation Database (HGMD): PPP2R2B

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PPP2R2B for disorders           About GeneDecksing

OMIM gene information: 604325
OMIM disorders: 604326
UniProtKB/Swiss-Prot: 2ABB_HUMAN, Q00005

Defects in PPP2R2B are the cause of spinocerebellar ataxia type 12 (SCA12) [MIM:604326]. Spinocerebellar

ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive

incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the

cerebellum with variable involvement of the brainstem and spinal cord. SCA12 is an autosomal dominant cerebellar

ataxia (ADCA)

20/28 diseases for PPP2R2B (see all 28): About MalaCards

spinocerebellar ataxia ataxia spinocerebellar ataxia type 12 spinocerebellar ataxia type12

multiple system atrophy systemic lupus erythematosus neuronitis lupus erythematosus

ductal carcinoma in situ alcohol dependence cerebellar ataxia neurodegenerative disease

chagas disease hepatitis c trypanosomiasis hepatitis b

alcoholism twinning alzheimer's disease ovarian cancer

3 diseases from the University of Copenhagen DISEASES database for PPP2R2B:

Spinocerebellar ataxia Cerebellar ataxia dentatorubral-pallidoluysian atrophy

6 Novoseek disease relationships for PPP2R2B gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
sca12	99.3	34	12140678 (5), 15148151 (4), 19953482 (3), 19235102 (2) (see all 13)
sca17	92.2	11	15148151 (4), 19235102 (1), 19953482 (1), 17420317 (1)
spinocerebellar ataxias	91.2	3	16138911 (1), 19417544 (1), 19953482 (1)
drpla	86	7	19235102 (2), 15148151 (1), 17420317 (1), 17961920 (1) (see all 5)
ataxias hereditary	77.6	3	15148151 (1), 17420317 (1)
neurodegenerative diseases	53.7	1	18940801 (1)

GeneTests: PPP2R2B

Spinocerebellar Ataxia Type12

Genetic Association Database (GAD): PPP2R2B
Human Genome Epidemiology (HuGE) Navigator: PPP2R2B (16 documents)

Export disorders for PPP2R2B gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for PPP2R2B gene, integrated from 9 sources (see all 88):
(articles sorted by number of sources associating them with PPP2R2B)

Utopia: connect your pdf to the dynamic
world of online information

Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12. (PubMed id 10581021)^{1, 2, 3} Holmes S.E.... Margolis R.L. (1999)
Structure of the 55-kDa regulatory subunit of protein phosphatase 2A: evidence for a neuronal-specific isoform. (PubMed id 1849734)^{1, 2, 3} Mayer R.E.... Hemmings B.A. (1991)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
CAG repeat polymorphisms in KCNN3 (HSKCa3) and PPP2R2B show no association or linkage to schizophrenia. (PubMed id 12497613)^{1, 4} Laurent C....Mallet J. (2003)
Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions. (PubMed id 12140678)^{1, 9} Brusco A....Orsi L. (2002)
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. (PubMed id 15148151)^{1, 9} Brusco A....Taroni F. (2004)
PPP2R2B CAG repeat length in the Han Chinese in Taiwan: Association analyses in neurological and psychiatric disorders and potential functional implications. (PubMed id 18484086)^{1, 9} Chen C.M....Lee-Chen G.J. (2008)
Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. (PubMed id 19235102)^{1, 9} Rajkiewicz M....Zaremba J. (2008)
Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group. (PubMed id 14960773)^{1, 9} Sul/ek A....Zaremba J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 5521	HGNC: 9305	AceView: PPP2R2B	Ensembl:ENSG00000156475	euGenes: HUgn5521
ECgene: PPP2R2B	Kegg: 5521	H-InvDB: PPP2R2B

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for PPP2R2B	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PPP2R2B

Intellectual Property for PPP2R2B gene
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Patent Information for PPP2R2B gene:
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GeneCards and IP:
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PPP2R2B Gene

protein phosphatase 2, regulatory subunit B, beta

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PPP2R2B (Gene Symbol)
Protein Phosphatase 2, Regulatory Subunit B, Beta
PR52B
PR55-BETA
SCA12
Protein Phosphatase 2 (Formerly 2A), Regulatory Subunit B (PR 52), Beta Isoform
Protein Phosphatase 2 (Formerly 2A), Regulatory Subunit B, Beta Isoform
PP2A Subunit B Isoform B55-Beta
PP2A Subunit B Isoform PR55-Beta
PP2A Subunit B Isoform R2-Beta
Spinocerebellar Ataxia 12
B55BETA
PP2AB55BETA
PP2ABBETA
PP2APR55B
PP2APR55BETA
PR2AB55BETA
PR2ABBETA
PR2APR55BETA
PR55BETA
PP2A, Subunit B, B-Beta Isoform
Serine/Threonine Protein Phosphatase 2A, 55 KDa Regulatory Subunit B, Beta Isoform
Serine/Threonine Protein Phosphatase 2A, Neuronal Isoform
Serine/Threonine-Protein Phosphatase 2A 55 KDa Regulatory Subunit B Beta Isoform
PP2A Subunit B Isoform Beta

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PPP2R2B Gene

protein phosphatase 2, regulatory subunit B, beta

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