PPP2R1B

Summary

PPP2R1B (protein phosphatase 2 scaffold subunit Abeta, HGNC:9303) is a protein-coding gene on chromosome 11q23.1, encoding Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A beta isoform (P30154). The PR65 subunit of protein phosphatase 2A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit.

This gene encodes a constant regulatory subunit of protein phosphatase 2. 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 constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes a beta isoform of the constant regulatory subunit A. Mutations in this gene have been associated with some lung and colon cancers. Alternatively spliced transcript variants have been described.

Source: NCBI Gene 5519 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 210 total — 1 pathogenic
• Phenotypes (HPO): 5
• MANE Select transcript: NM_002716

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9303
Approved symbol	PPP2R1B
Name	protein phosphatase 2 scaffold subunit Abeta
Location	11q23.1
Locus type	gene with protein product
Status	Approved
Aliases	PR65B, PP2A-Abeta
Ensembl gene	ENSG00000137713
Ensembl biotype	protein_coding
OMIM	603113
Entrez	5519

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 17 protein_coding, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay, 1 retained_intron

ENST00000311129, ENST00000341980, ENST00000393055, ENST00000426998, ENST00000526287, ENST00000527614, ENST00000529672, ENST00000530787, ENST00000531373, ENST00000531890, ENST00000534500, ENST00000534521, ENST00000876845, ENST00000876846, ENST00000876847, ENST00000876848, ENST00000876849, ENST00000925452, ENST00000925453, ENST00000925454, ENST00000925455, ENST00000925456

RefSeq mRNA: 5 — MANE Select: NM_002716 NM_001177562, NM_001177563, NM_002716, NM_181699, NM_181700

CCDS: CCDS53706, CCDS53707, CCDS53708, CCDS8348, CCDS8349

Canonical transcript exons

ENST00000527614 — 15 exons

Exon	Start	End
ENSE00001624344	111737877	111741612
ENSE00002169916	111766248	111766389
ENSE00003483051	111760819	111761051
ENSE00003493390	111743376	111743530
ENSE00003539911	111742523	111742665
ENSE00003539939	111747954	111748014
ENSE00003626683	111765294	111765384
ENSE00003641380	111759804	111759951
ENSE00003647708	111753443	111753577
ENSE00003650759	111755295	111755450
ENSE00003653195	111754499	111754569
ENSE00003654752	111752159	111752332
ENSE00003670868	111742053	111742144
ENSE00003671084	111754980	111755094
ENSE00003684177	111764805	111764905

Expression profiles

Bgee: expression breadth ubiquitous, 284 present calls, max score 97.12.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.1364 / max 126.4699, expressed in 1768 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
122252	10.9439	1764
122253	0.9095	441
122250	0.1536	54
122249	0.1294	43

Top tissues by expression

294 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	97.12	gold quality
right lobe of liver	UBERON:0001114	97.01	gold quality
male germ cell	CL:0000015	95.81	gold quality
liver	UBERON:0002107	94.63	gold quality
left testis	UBERON:0004533	93.68	gold quality
right testis	UBERON:0004534	93.57	gold quality
testis	UBERON:0000473	92.77	gold quality
adipose tissue	UBERON:0001013	92.73	gold quality
body of pancreas	UBERON:0001150	92.70	gold quality
islet of Langerhans	UBERON:0000006	92.60	gold quality
connective tissue	UBERON:0002384	92.37	gold quality
pancreas	UBERON:0001264	92.06	gold quality
secondary oocyte	CL:0000655	91.80	gold quality
adipose tissue of abdominal region	UBERON:0007808	91.41	gold quality
oocyte	CL:0000023	91.39	gold quality
subcutaneous adipose tissue	UBERON:0002190	91.20	gold quality
omental fat pad	UBERON:0010414	91.08	gold quality
peritoneum	UBERON:0002358	91.04	gold quality
choroid plexus epithelium	UBERON:0003911	91.03	gold quality
stromal cell of endometrium	CL:0002255	90.89	gold quality
adrenal tissue	UBERON:0018303	90.16	gold quality
esophagus squamous epithelium	UBERON:0006920	90.03	gold quality
squamous epithelium	UBERON:0006914	89.67	gold quality
colonic epithelium	UBERON:0000397	89.29	gold quality
cervix squamous epithelium	UBERON:0006922	89.21	silver quality
gingival epithelium	UBERON:0001949	88.97	gold quality
epithelium of esophagus	UBERON:0001976	88.43	gold quality
body of stomach	UBERON:0001161	88.39	gold quality
calcaneal tendon	UBERON:0003701	88.25	gold quality
nephron tubule	UBERON:0001231	88.09	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ETS1, SP1, SP3

miRNA regulators (miRDB)

135 targeting PPP2R1B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-6755-5P	99.95	65.59	464
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-6744-5P	99.93	66.82	748
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-424-5P	99.89	71.90	2641

Literature-anchored findings (GeneRIF, showing 14)

• apoptosis mediated by Fas, TNF-alpha, and TRAIL in U937 cells is suppressed by calyculin A, an inhibitor of type-1 and type-2A protein phosphatases (PMID:14576831)
• PPP2R1B has a role in regulating activity of specific downstream target proteins for cell cycle regulation in colorectal cancers (PMID:14767517)
• Functional interaction between PR65, a regulatory subunit of the protein phosphatase 2A (PP2A), and CFTR was shown. (PMID:15936019)
• These data suggest the possibility that aberrant transcripts of PPP2R1B might be associated with the development of HCC. (PMID:17324501)
• PPP2R1B genes may not play a role in the carcinogenesis of cervical cancer. Mutations of PPP2R1B gene are not frequent in cervical cancer. (PMID:17343570)
• PPP2R1B, together with NPAT and CUL5, is implicated in the deregulation of the cell-cycle and apoptosis regulators and in the pathogenesis of B-CLL. (PMID:17449237)
• These observations identify PP2A Abeta as a tumor suppressor gene that transforms immortalized human cells by regulating the function of RalA. (PMID:17540176)
• Data show that upon hypoxia, the TGF-beta-induced phosphorylation of Smad3 was inhibited, although Smad2 remained phosphorylated, and Smad3 was dephosphorylated by PP2A. (PMID:19951945)
• Data show that PR65-dominated fluctuations of PP2A have the effect of opening and closing the enzyme’s substrate binding/catalysis interface, as well as altering the positions of certain catalytic residues. (PMID:20133745)
• Data show that the only gene that was expressed, although not at high levels, in all the cells carrying the 11q23.1 amplification was PPP2R1B. (PMID:21420167)
• For PPP2R1B, no mutations were detected in our samples. (PMID:23588898)
• MicroRNA-587 antagonizes 5-fluorouracil-induced apoptosis and confers drug resistance by regulating PPP2R1B expression in colorectal cancer. (PMID:26247730)
• PPP2R1B is modulated by ubiquitination and is essential for spermatogenesis. (PMID:33913576)
• Lnc-PPP2R1B Mediates the Alternative Splicing of PPP2R1B by Interacting and Stabilizing HNRNPLL and Promotes Osteogenesis of MSCs. (PMID:37243830)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ppp2r1ba	ENSDARG00000007791
danio_rerio	ppp2r1bb	ENSDARG00000032430
mus_musculus	Ppp2r1b	ENSMUSG00000032058
rattus_norvegicus	Ppp2r1b	ENSRNOG00000010922
drosophila_melanogaster	Pp2A-29B	FBGN0260439

Paralogs (2): PPP2R1A (ENSG00000105568), PPP4R1 (ENSG00000154845)

Protein

Protein identifiers

Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A beta isoform — P30154 (reviewed: P30154)

Alternative names: PP2A subunit A isoform PR65-beta, PP2A subunit A isoform R1-beta

All UniProt accessions (5): E9PHZ6, E9PNM7, E9PPI5, P30154, H0YDG7

UniProt curated annotations — full annotation on UniProt →

Function. The PR65 subunit of protein phosphatase 2A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit.

Subunit / interactions. 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. Interacts with IPO9. Interacts with SGO1. Interacts with RAF1.

Domain organisation. Each HEAT repeat appears to consist of two alpha helices joined by a hydrophilic region, the intrarepeat loop. The repeat units may be arranged laterally to form a rod-like structure.

Similarity. Belongs to the phosphatase 2A regulatory subunit A family.

Isoforms (5)

UniProt ID	Names	Canonical?
P30154-1	1	yes
P30154-2	2
P30154-3	3
P30154-4	4
P30154-5	5

RefSeq proteins (5): NP_001171033, NP_001171034, NP_002707, NP_859050, NP_859051 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000357	HEAT	Repeat
IPR011989	ARM-like	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR021133	HEAT_type_2	Repeat
IPR051023	PP2A_Regulatory_Subunit_A	Family
IPR054573	PP2A/SF3B1-like_HEAT	Domain
IPR055231	PIK3R4-like_middle	Domain

Pfam: PF02985, PF13646, PF22646, PF22956

UniProt features (40 total): repeat 15, sequence variant 13, sequence conflict 5, splice variant 4, initiator methionine 1, chain 1, modified residue 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
9MF5	ELECTRON MICROSCOPY	3.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P30154-F1	93.27	0.88

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 2

Function

Pathways and Gene Ontology

Reactome pathways

120 pathways

ID	Pathway
R-HSA-113501	Inhibition of replication initiation of damaged DNA by RB1/E2F1
R-HSA-141444	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-163767	PP2A-mediated dephosphorylation of key metabolic factors
R-HSA-180024	DARPP-32 events
R-HSA-195253	Degradation of beta-catenin by the destruction complex
R-HSA-196299	Beta-catenin phosphorylation cascade
R-HSA-198753	ERK/MAPK targets
R-HSA-202670	ERKs are inactivated
R-HSA-2465910	MASTL Facilitates Mitotic Progression
R-HSA-2467813	Separation of Sister Chromatids
R-HSA-2500257	Resolution of Sister Chromatid Cohesion
R-HSA-389356	Co-stimulation by CD28
R-HSA-389513	Co-inhibition by CTLA4
R-HSA-432142	Platelet sensitization by LDL
R-HSA-4641262	Disassembly of the destruction complex and recruitment of AXIN to the membrane
R-HSA-5339716	Signaling by GSK3beta mutants
R-HSA-5358747	CTNNB1 S33 mutants aren’t phosphorylated
R-HSA-5358749	CTNNB1 S37 mutants aren’t phosphorylated
R-HSA-5358751	CTNNB1 S45 mutants aren’t phosphorylated
R-HSA-5358752	CTNNB1 T41 mutants aren’t phosphorylated
R-HSA-5467337	APC truncation mutants have impaired AXIN binding
R-HSA-5467340	AXIN missense mutants destabilize the destruction complex
R-HSA-5467348	Truncations of AMER1 destabilize the destruction complex
R-HSA-5663220	RHO GTPases Activate Formins
R-HSA-5673000	RAF activation
R-HSA-5675221	Negative regulation of MAPK pathway
R-HSA-6804757	Regulation of TP53 Degradation
R-HSA-6811558	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
R-HSA-68877	Mitotic Prometaphase
R-HSA-69231	Cyclin D associated events in G1

MSigDB gene sets: 302 (showing top): GOBP_CHROMOSOME_ORGANIZATION, REACTOME_INHIBITION_OF_REPLICATION_INITIATION_OF_DAMAGED_DNA_BY_RB1_E2F1, BROWNE_HCMV_INFECTION_6HR_DN, REACTOME_INNATE_IMMUNE_SYSTEM, GRUETZMANN_PANCREATIC_CANCER_DN, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GENTILE_RESPONSE_CLUSTER_D3, KEGG_TIGHT_JUNCTION, HASLINGER_B_CLL_WITH_11Q23_DELETION, REACTOME_CO_STIMULATION_BY_CD28

GO Biological Process (4): spindle assembly (GO:0051225), meiotic sister chromatid cohesion, centromeric (GO:0051754), apoptotic process involved in morphogenesis (GO:0060561), positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)

GO Molecular Function (2): protein phosphatase regulator activity (GO:0019888), protein binding (GO:0005515)

GO Cellular Component (6): protein phosphatase type 2A complex (GO:0000159), nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), membrane raft (GO:0045121), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-17 pathways:

Category	Pathways
Signaling by CTNNB1 phospho-site mutants	4
Regulation of T cell activation by CD28 family	2
E2F mediated regulation of DNA replication	1
Amplification of signal from the kinetochores	1
Integration of energy metabolism	1
Opioid Signalling	1
Signaling by WNT	1
Degradation of beta-catenin by the destruction complex	1
Nuclear Events (kinase and transcription factor activation)	1
MAPK targets/ Nuclear events mediated by MAP kinases	1
ERK/MAPK targets	1
Mitotic Prophase	1
Mitotic Anaphase	1
Mitotic Prometaphase	1
Platelet homeostasis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
spindle organization	1
chromosome segregation	1
membraneless organelle assembly	1
meiotic sister chromatid cohesion	1
centromeric sister chromatid cohesion	1
anatomical structure morphogenesis	1
apoptotic process involved in development	1
extrinsic apoptotic signaling pathway in absence of ligand	1
positive regulation of extrinsic apoptotic signaling pathway	1
regulation of extrinsic apoptotic signaling pathway in absence of ligand	1
phosphoprotein phosphatase activity	1
phosphatase regulator activity	1
protein phosphatase binding	1
binding	1
protein serine/threonine phosphatase complex	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
membrane microdomain	1
extracellular vesicle	1

Protein interactions and networks

STRING

1485 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PPP2R1B	PPP2CA	P05323	998
PPP2R1B	PPP2CB	P11082	994
PPP2R1B	PPP2R5C	Q13362	924
PPP2R1B	PPP4C	P33172	897
PPP2R1B	PPP2R2C	Q9Y2T4	874
PPP2R1B	PPP2R2A	P50409	855
PPP2R1B	RALA	P11233	832
PPP2R1B	SF3B1	O75533	762
PPP2R1B	PPP2R3A	Q06190	758
PPP2R1B	PPP2R2B	Q00005	736
PPP2R1B	STRN	O43815	715
PPP2R1B	PPP2R1A	P30153	670
PPP2R1B	PPP2R5E	Q16537	644
PPP2R1B	PPP2R2D	Q66LE6	638
PPP2R1B	PPP2R5A	Q15172	586

IntAct

231 interactions, top by confidence:

A	B	Type	Score
PDCD10	STK25	psi-mi:“MI:0914”(association)	0.980
PPP2R2A	PPP2R1A	psi-mi:“MI:2364”(proximity)	0.970
PPP2R1B	PPP2CA	psi-mi:“MI:0915”(physical association)	0.920
PPP2CA	PPP2R1B	psi-mi:“MI:0915”(physical association)	0.920
PPP2R3A	PPP2R1A	psi-mi:“MI:0914”(association)	0.920
STK25	STRN	psi-mi:“MI:0914”(association)	0.900
PIK3CA	PIK3R2	psi-mi:“MI:0914”(association)	0.900
STK24	STK25	psi-mi:“MI:0914”(association)	0.890
PPP2R1A	STRN	psi-mi:“MI:0914”(association)	0.880
STRN3	STK25	psi-mi:“MI:0914”(association)	0.880
CTTNBP2NL	STK25	psi-mi:“MI:0914”(association)	0.880
PPP2R5A	PPP2R1A	psi-mi:“MI:0914”(association)	0.870
STK24	STRN	psi-mi:“MI:0914”(association)	0.870
PPP2CA	STRN	psi-mi:“MI:0914”(association)	0.840
STRIP1	STK25	psi-mi:“MI:0914”(association)	0.840
MOB4	STRN	psi-mi:“MI:0914”(association)	0.790
PPP2CB	STRN	psi-mi:“MI:0914”(association)	0.790
CDCA4	PPP2R1A	psi-mi:“MI:0914”(association)	0.790
CEP19	CEP43	psi-mi:“MI:0914”(association)	0.770
PPP2R1B	PPP2R1A	psi-mi:“MI:0915”(physical association)	0.740
PPP2R1B	PPP2R2A	psi-mi:“MI:0915”(physical association)	0.730
PPP2R1B	STRN	psi-mi:“MI:0914”(association)	0.730
STRN4	STRN	psi-mi:“MI:0914”(association)	0.730
MOB4	STK25	psi-mi:“MI:0914”(association)	0.730
SIKE1	STRN	psi-mi:“MI:0914”(association)	0.730
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730

BioGRID (315): PPP2R1B (Affinity Capture-Western), PPP2R1B (Two-hybrid), DAPK1 (Affinity Capture-Western), UNC5B (Affinity Capture-Western), PPP2R1B (Two-hybrid), PPP2R1B (Two-hybrid), PPP2R5D (Two-hybrid), PPP2R5E (Two-hybrid), RORC (Two-hybrid), PPP2R1B (Two-hybrid), PPP2R1B (Two-hybrid), PPP2R1B (Two-hybrid), PPP2R1B (Two-hybrid), PPP2R1B (Two-hybrid), PPP2R1B (Two-hybrid)

ESM2 similar proteins: A2VE21, A7MBJ5, D4ABY2, O00410, O60100, O60518, O81742, P30153, P30154, P31383, P36179, P36875, P53620, P54612, P54613, P97536, Q04173, Q09543, Q0P5A6, Q16401, Q29AE5, Q32PI5, Q38845, Q38950, Q38951, Q4AEF8, Q4QQT4, Q54QR9, Q5IFJ8, Q5R6L5, Q66JI9, Q6DKD7, Q6ZQ38, Q76MZ3, Q7TNP2, Q86VP6, Q8BIV3, Q8BJY1, Q8BKC5, Q8H852

Diamond homologs: P30153, P30154, P31383, P36179, P54612, P54613, Q09543, Q32PI5, Q38845, Q38950, Q38951, Q4QQT4, Q54QR9, Q76MZ3, Q7TNP2, Q9UT08

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
PPP2R1B	“up-regulates activity”	PPP2CA	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 197 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Signaling by GSK3beta mutants	9	58.1×	4e-13
CTNNB1 S33 mutants aren’t phosphorylated	9	58.1×	4e-13
CTNNB1 S37 mutants aren’t phosphorylated	9	58.1×	4e-13
CTNNB1 S45 mutants aren’t phosphorylated	9	58.1×	4e-13
CTNNB1 T41 mutants aren’t phosphorylated	9	58.1×	4e-13
Beta-catenin phosphorylation cascade	9	51.2×	2e-12
Platelet sensitization by LDL	8	45.5×	2e-10
Signaling by WNT in cancer	7	35.7×	2e-08

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of hippo signaling	8	33.6×	5e-08
protein dephosphorylation	8	10.6×	3e-04
intracellular signal transduction	20	4.6×	8e-06
protein phosphorylation	11	4.5×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

210 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	163
Likely benign	13
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
6621	NM_002716.5(PPP2R1B):c.269G>A (p.Gly90Asp)	Pathogenic

SpliceAI

2758 predictions. Top by Δscore:

Variant	Effect	Δscore
11:111737567:CCA:C	acceptor_gain	1.0000
11:111737568:CAC:C	acceptor_gain	1.0000
11:111737570:C:CC	acceptor_gain	1.0000
11:111742047:ACAT:A	donor_loss	1.0000
11:111742048:CAT:C	donor_loss	1.0000
11:111742049:ATA:A	donor_loss	1.0000
11:111742050:TACCA:T	donor_loss	1.0000
11:111742051:A:AC	donor_gain	1.0000
11:111742052:C:CA	donor_loss	1.0000
11:111742052:C:CC	donor_gain	1.0000
11:111742052:CCA:C	donor_gain	1.0000
11:111742064:T:TA	donor_gain	1.0000
11:111742517:TCTTA:T	donor_loss	1.0000
11:111742518:CTTAC:C	donor_loss	1.0000
11:111742519:TTAC:T	donor_loss	1.0000
11:111742520:TACTT:T	donor_loss	1.0000
11:111742521:A:AC	donor_gain	1.0000
11:111742521:A:T	donor_loss	1.0000
11:111742522:C:CT	donor_gain	1.0000
11:111742522:CT:C	donor_gain	1.0000
11:111742662:GTGC:G	acceptor_gain	1.0000
11:111742663:TGC:T	acceptor_gain	1.0000
11:111742664:GC:G	acceptor_gain	1.0000
11:111742665:CC:C	acceptor_gain	1.0000
11:111742666:C:CC	acceptor_gain	1.0000
11:111742667:T:G	acceptor_loss	1.0000
11:111743531:C:CC	acceptor_gain	1.0000
11:111752153:A:AC	donor_gain	1.0000
11:111752154:C:CC	donor_gain	1.0000
11:111752154:CT:C	donor_gain	1.0000

AlphaMissense

3904 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:111742577:A:T	V548D	1.000
11:111742579:A:C	N547K	1.000
11:111742579:A:T	N547K	1.000
11:111743400:T:A	R510S	1.000
11:111743400:T:G	R510S	1.000
11:111743401:C:G	R510T	1.000
11:111743463:C:A	W489C	1.000
11:111743463:C:G	W489C	1.000
11:111743509:G:T	A474D	1.000
11:111743510:C:G	A474P	1.000
11:111743518:C:G	R471P	1.000
11:111752208:C:A	R430M	1.000
11:111752208:C:G	R430T	1.000
11:111752210:C:A	W429C	1.000
11:111752210:C:G	W429C	1.000
11:111752212:A:G	W429R	1.000
11:111752212:A:T	W429R	1.000
11:111752229:A:G	L423P	1.000
11:111755331:C:A	W269C	1.000
11:111755331:C:G	W269C	1.000
11:111755333:A:G	W269R	1.000
11:111755333:A:T	W269R	1.000
11:111760899:G:C	F153L	1.000
11:111760899:G:T	F153L	1.000
11:111760901:A:G	F153L	1.000
11:111760987:A:G	L124P	1.000
11:111761000:C:G	A120P	1.000
11:111761008:C:G	R117P	1.000
11:111761011:A:T	V116D	1.000
11:111761021:C:T	E113K	1.000

dbSNP variants (sampled 300 via entrez): RS1000007272 (11:111689554 A>G), RS1000070943 (11:111713438 A>G), RS1000106835 (11:111729644 T>C), RS1000122024 (11:111735851 T>C), RS1000194257 (11:111736981 T>A), RS1000260572 (11:111737289 C>A,T), RS1000329252 (11:111705541 C>T), RS1000386486 (11:111755207 A>C), RS1000410399 (11:111735695 G>T), RS1000458269 (11:111720243 C>G), RS1000484968 (11:111705999 C>T), RS1000497210 (11:111735731 G>A), RS1000592547 (11:111691702 C>A), RS1000593016 (11:111735979 G>A), RS1000708953 (11:111730173 G>A,C)

Disease associations

OMIM: gene MIM:603113 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): lung carcinoma (MONDO:0005138)

Orphanet (0):

HPO phenotypes

5 total (5 of 5 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0001442	Typified by somatic mosaicism
HP:0006519	Alveolar cell carcinoma
HP:0030078	Lung adenocarcinoma
HP:0030358	Non-small cell lung carcinoma

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST007563_14	Allergic disease (asthma, hay fever or eczema)	1.000000e-10
GCST007564_5	Asthma or allergic disease (pleiotropy)	6.000000e-11
GCST008916_78	Asthma	2.000000e-08
GCST010135_36	Oily fish consumption	9.000000e-09
GCST010140_26	Pork consumption	9.000000e-09
GCST010142_27	Fish- and plant-related diet	3.000000e-09
GCST010242_387	HDL cholesterol levels	4.000000e-10
GCST010703_266	Brain morphology (MOSTest)	4.000000e-13
GCST90002397_540	Mean spheric corpuscular volume	2.000000e-21
GCST90002403_208	Red blood cell count	6.000000e-09

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0008111	diet measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004346	neuroimaging measurement
EFO:0004305	erythrocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

59 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	5
bisphenol A	decreases expression, decreases methylation, increases expression	3
trichostatin A	affects cotreatment, increases expression	2
sodium arsenite	decreases expression	2
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	2
Cadmium	decreases expression, increases expression	2
Aflatoxin B1	decreases methylation, decreases expression	2
GSK-J4	decreases expression	1
dicrotophos	decreases expression	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
decabromobiphenyl ether	decreases expression	1
riddelliine	decreases expression, increases metabolic processing	1
tetrabromobisphenol A	decreases expression	1
pyrvinium	decreases reaction, increases expression	1
1,10-phenanthroline	decreases expression	1
ochratoxin A	decreases expression	1
cobalt sulfate	decreases expression	1
nickel sulfate	increases expression	1
tamibarotene	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
pentabromodiphenyl ether	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
obeticholic acid	increases expression	1
ICG 001	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
bisphenol S	increases expression	1

Cellosaurus cell lines

4 cell lines: 3 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B3EJ	Abcam HEK293T PPP2R1B KO	Transformed cell line	Female
CVCL_D8TL	Ubigene HCT 116 PPP2R1B KO	Cancer cell line	Male
CVCL_TF93	HAP1 PPP2R1B (-) 1	Cancer cell line	Male
CVCL_TF94	HAP1 PPP2R1B (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00158041	PHASE4	COMPLETED	Subcutaneous Amifostine Safety Study
NCT00277160	PHASE4	COMPLETED	A Study of Primary Prophylaxis With Neulasta (Pegfilgrastim) Versus Secondary Prophylaxis After Chemotherapy in Elderly Subjects (>/= 65 Years Old) With Cancer
NCT00365508	PHASE4	COMPLETED	Counseling and Nicotine Replacement Therapy in Helping Adult Smokers Quit Smoking
NCT00440960	PHASE4	COMPLETED	Anesthesia in Flexible Bronchoscopy for Lung Cancer Diagnostic
NCT00492843	PHASE4	TERMINATED	Loading Dose or Standard Dose of Intravenous Ibandronate in Treating Patients With Lung Cancer and Skeletal Metastasis
NCT00666978	PHASE4	COMPLETED	Health Education Counseling With or Without Bupropion in Helping African Americans Stop Smoking
NCT00675168	PHASE4	UNKNOWN	Positron Emission Tomography (PET)/Computed Tomography (CT) and Roentgen in Lung Cancer: Evaluation of Patients in General Practice
NCT00712647	PHASE4	COMPLETED	Carotene and Retinol Efficacy Trial
NCT00747773	PHASE4	COMPLETED	Cryospray Ablation of Surgical Resection Specimens To Determine Safety And Histological Effect In The Lung
NCT01060137	PHASE4	COMPLETED	Fentanyl Matrix in Lung Cancer Pain
NCT01381627	PHASE4	UNKNOWN	Safety Evaluation of Dexmedetomidine for EBUS-TBNA
NCT01741506	PHASE4	COMPLETED	Coagulation Profile in Patients Undergoing Video Assisted Thorascopic Surgery (VATS) for Lung Cancer
NCT02246023	PHASE4	COMPLETED	Fractionated Versus Target-controlled Propofol Administration in Bronchoscopy
NCT02275702	PHASE4	COMPLETED	Randomized Study of Preoperative Dexamethasone for Quality of Recovery in VATS Lung Resection Patients
NCT02346318	PHASE4	UNKNOWN	The Randomized Controlled Clinical Trial of Kushen Injection
NCT02476526	PHASE4	COMPLETED	Safety of Low Dose IV Contrast CT Scanning in Chronic Kidney Disease
NCT02490059	PHASE4	COMPLETED	Ultrathin Bronchoscopy for Solitary Pulmonary Nodules
NCT02504801	PHASE4	UNKNOWN	Efficacy of Nebulized Pulmicort Respules in Primary Lung Cancer Patients With COPD
NCT02869789	PHASE4	COMPLETED	An Investigational Immuno-therapy Study for Safety of Nivolumab in Combination With Ipilimumab to Treat Advanced Cancers
NCT03302221	PHASE4	WITHDRAWN	Regional Haemodynamic Changes in Radial Artery Assessment With Continuous Pulsed-wave Doppler Ultrasound
NCT03313544	PHASE4	UNKNOWN	Evolution of the Heart Function When Monitoring Immunotherapies Anti-cancerous Inhibiting PD-1
NCT03394222	PHASE4	COMPLETED	Effect of Preoperative Budesonide Inhalation on Arterial Blood Oxygenation and Intrapulmonary Shunt During OLV
NCT03570645	PHASE4	COMPLETED	Comparison of the Duration of Ropivacaine Combined With Dexmedetomidine or Dexamethasone on Paravertebral Block
NCT03571126	PHASE4	UNKNOWN	Olanzapine for the Prevention and Treatment of Nausea and Vomiting Induced by Chemotherapy of Lung Cancer
NCT03642457	PHASE4	TERMINATED	Efficacy Between Serratus Plane Block And Local Infiltration In Vats
NCT04145570	PHASE4	COMPLETED	A Single-Dose,ComparativeBioavailability Study ofTwo Formulations ofErlotinib150mgTabletsunderFastingConditions
NCT04155008	PHASE4	TERMINATED	Nutrition and Pharmacological Algorithm for Oncology Patients Study
NCT04613284	PHASE4	UNKNOWN	Rh-Endostatin Combined With CCRT(50 Gy) Followed by Durvalumab Maintenance for the Treatment of Specific Phase III NSCLC
NCT05463913	PHASE4	RECRUITING	Lung Nodule Detection Using Ultra-long FOV PET/CT
NCT05521789	PHASE4	RECRUITING	Erector Spinae Block for Thoracic Surgery
NCT05525338	PHASE4	RECRUITING	Comparison of Standard Dose Alectinib to Alectinib in Adjusted Dose Based on Alectinib Bloodlevels
NCT05663242	PHASE4	RECRUITING	The Effects of Using Different Anesthetics on the Prognosis of Primary Lung Tumors and Its Mechanism of Action
NCT05926336	PHASE4	RECRUITING	The Effects of Using Different Anesthetics on the Prognosis of Primary Tumors and Its Mechanism of Action
NCT06105801	PHASE4	RECRUITING	EBUS-TBNA vs Transbronchial Mediastinal Cryobiopsy for Adequacy of Next Generation Sequencing
NCT06276933	PHASE4	NOT_YET_RECRUITING	A Study of Camrelizumab Combined With Chemotherapy ± Thalidomide in First-line Treatment of Patients With Advanced Non-small Cell Lung Cancer (NSCLC)
NCT06646471	PHASE4	RECRUITING	PROspective Master-protocol for Evaluation of Systemic THErapeutics in Elderly With Thoracic Malignancies
NCT07405086	PHASE4	RECRUITING	Morning Versus Afternoon Administration of Immunotherapy for the Treatment of Advanced or Metastatic Solid Tumors, The Knight SHIFT Study
NCT00002550	PHASE3	COMPLETED	Chemotherapy Plus Radiation Therapy With or Without Surgery in Treating Patients With Stage IIIA Non-small Cell Lung Cancer
NCT00002583	PHASE3	COMPLETED	Vinorelbine + Cisplatin or No Further Therapy in Non-small Cell Lung Cancer That Has Been Surgically Removed
NCT00002623	PHASE3	COMPLETED	Chemotherapy Followed by Surgery or Radiation Therapy in Treating Patients With Stage III Non-small Cell Lung Cancer