PPP2R5E

Summary

PPP2R5E (protein phosphatase 2 regulatory subunit B’epsilon, HGNC:9313) is a protein-coding gene on chromosome 14q23.2, encoding Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform (Q16537). The B regulatory subunit might modulate substrate selectivity and catalytic activity, and might also direct the localization of the catalytic enzyme to a particular subcellular compartment.

The protein encoded by 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 an epsilon isoform of the regulatory subunit B56 subfamily. Multiple transcript variants encoding several different isoforms have been found for this gene.

Source: NCBI Gene 5529 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 32 total
• MANE Select transcript: NM_006246

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9313
Approved symbol	PPP2R5E
Name	protein phosphatase 2 regulatory subunit B’epsilon
Location	14q23.2
Locus type	gene with protein product
Status	Approved
Aliases	B56E, B56epsilon
Ensembl gene	ENSG00000154001
Ensembl biotype	protein_coding
OMIM	601647
Entrez	5529

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 18 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000337537, ENST00000422769, ENST00000553266, ENST00000555899, ENST00000556150, ENST00000556484, ENST00000556878, ENST00000887187, ENST00000887188, ENST00000887189, ENST00000887190, ENST00000887191, ENST00000916233, ENST00000916234, ENST00000916235, ENST00000916236, ENST00000916237, ENST00000916238, ENST00000966878, ENST00000966879, ENST00000966880, ENST00000966881

RefSeq mRNA: 6 — MANE Select: NM_006246 NM_001282179, NM_001282180, NM_001282181, NM_001282182, NM_001354926, NM_006246

CCDS: CCDS61467, CCDS61468, CCDS9758

Canonical transcript exons

ENST00000337537 — 14 exons

Exon	Start	End
ENSE00001850831	63371364	63376108
ENSE00001947299	63542779	63543377
ENSE00003463228	63391817	63391867
ENSE00003482761	63382056	63382157
ENSE00003513636	63391972	63392025
ENSE00003516046	63396586	63396716
ENSE00003516189	63453689	63453885
ENSE00003530851	63389612	63389731
ENSE00003540888	63415140	63415232
ENSE00003554233	63421993	63422094
ENSE00003576714	63384444	63384571
ENSE00003624039	63393820	63393928
ENSE00003633557	63539529	63539692
ENSE00003670082	63395226	63395285

Expression profiles

Bgee: expression breadth ubiquitous, 265 present calls, max score 98.53.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 46.0415 / max 317.1358, expressed in 1820 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
143598	41.9912	1818
143596	1.5201	809
143597	1.3961	782
143595	0.6647	423
143594	0.4521	230
143593	0.0174	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	98.53	gold quality
cortical plate	UBERON:0005343	95.94	gold quality
ileal mucosa	UBERON:0000331	95.16	gold quality
tibialis anterior	UBERON:0001385	95.05	gold quality
ganglionic eminence	UBERON:0004023	94.95	gold quality
buccal mucosa cell	CL:0002336	94.71	gold quality
endothelial cell	CL:0000115	93.95	gold quality
oviduct epithelium	UBERON:0004804	93.67	gold quality
deltoid	UBERON:0001476	93.66	gold quality
pericardium	UBERON:0002407	93.14	gold quality
ventricular zone	UBERON:0003053	92.91	gold quality
Brodmann (1909) area 23	UBERON:0013554	92.83	gold quality
epithelial cell of pancreas	CL:0000083	92.71	gold quality
biceps brachii	UBERON:0001507	92.64	gold quality
pons	UBERON:0000988	92.61	gold quality
cauda epididymis	UBERON:0004360	92.52	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	92.18	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	92.18	gold quality
caput epididymis	UBERON:0004358	92.12	gold quality
left ventricle myocardium	UBERON:0006566	92.08	gold quality
corpus epididymis	UBERON:0004359	92.07	gold quality
saphenous vein	UBERON:0007318	91.97	gold quality
cerebellar vermis	UBERON:0004720	91.78	gold quality
superior surface of tongue	UBERON:0007371	91.71	gold quality
lower lobe of lung	UBERON:0008949	91.62	gold quality
mucosa of paranasal sinus	UBERON:0005030	91.53	gold quality
middle temporal gyrus	UBERON:0002771	91.51	gold quality
skeletal muscle tissue	UBERON:0001134	91.50	gold quality
tendon of biceps brachii	UBERON:0008188	91.44	gold quality
urethra	UBERON:0000057	91.33	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.87
E-GEOD-137537	yes	4.69
E-MTAB-3929	no	198.26

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

169 targeting PPP2R5E, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
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-4795-3P	100.00	74.62	4024
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-548AJ-3P	99.96	73.38	5345

Literature-anchored findings (GeneRIF, showing 11)

• The PPP2R5E gene is identified as harboring genetic variants that can affect human cancer and are possibly under evolutionary selection pressure. (PMID:19773383)
• identified the phosphorylation of hSgo2 by Aurora B at the N-terminal coiled-coil region and the middle region, and showed that these phosphorylations separately promote binding of hSgo2 to PP2A and MCAK (PMID:20889715)
• Downregulation of PPP2R5E affects the oncogenic potential of leukemic cells. (PMID:23812941)
• The two functional variants in PPP2R1A and PPP2R5E and their combinations are associated with lung cancer risk in the Chinese. (PMID:24204789)
• the significance of miR-23a and PPP2R5E in the proliferation and apoptosis of gastric cancer cells (PMID:24997345)
• KIF4A and PP2A-B56G and -B56E create a spatially restricted negative feedback loop counteracting Aurora B in anaphase. (PMID:25512391)
• PP2A holoenzyme containing B56 is responsible for the dephosphorylation of gamma-H2AX and regulation of DNA repair of double strand breaks induced by camptothecin. (PMID:25772433)
• results suggest that the PPP2R5E phosphatase may contribute to microtubule organization by stabilizing MTCL1. (PMID:27521566)
• EFNA5, BAHD1 and PPP2R5E were particularly good candidates for novel disease loci (PMID:30352868)
• Functional and Structural Insights into a Vif/PPP2R5 Complex Elucidated Using Patient HIV-1 Isolates and Computational Modeling. (PMID:32847850)
• Deregulation of the miR-19b/PPP2R5E Signaling Axis Shows High Functional Impact in Colorectal Cancer Cells. (PMID:37175484)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	ppp2r5eb	ENSDARG00000069118
mus_musculus	Ppp2r5e	ENSMUSG00000021051
rattus_norvegicus	Ppp2r5e	ENSRNOG00000005045
drosophila_melanogaster	wdb	FBGN0027492
caenorhabditis_elegans		WBGENE00007554
caenorhabditis_elegans		WBGENE00012348

Paralogs (4): PPP2R5A (ENSG00000066027), PPP2R5B (ENSG00000068971), PPP2R5C (ENSG00000078304), PPP2R5D (ENSG00000112640)

Protein

Protein identifiers

Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform — Q16537 (reviewed: Q16537)

Alternative names: PP2A B subunit isoform B’-epsilon, PP2A B subunit isoform B56-epsilon, PP2A B subunit isoform PR61-epsilon, PP2A B subunit isoform R5-epsilon

All UniProt accessions (1): Q16537

UniProt curated annotations — full annotation on UniProt →

Function. The B regulatory subunit might modulate substrate selectivity and catalytic activity, and might also direct the localization of the catalytic enzyme to a particular subcellular compartment.

Subunit / interactions. Found in a complex with at least ARL2, PPP2CB; PPP2R1A, PPP2R2A, PPP2R5E and TBCD. 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 SGO1.

Subcellular location. Cytoplasm.

Post-translational modifications. Phosphorylated on serine residues.

Similarity. Belongs to the phosphatase 2A regulatory subunit B56 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q16537-1	1	yes
Q16537-2	2
Q16537-3	3

RefSeq proteins (5): NP_001269108, NP_001269109, NP_001269110, NP_001269111, NP_006237* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002554	PP2A_B56	Family
IPR011989	ARM-like	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily

Pfam: PF01603

UniProt features (47 total): helix 28, modified residue 5, turn 4, splice variant 2, strand 2, compositionally biased region 2, initiator methionine 1, chain 1, sequence conflict 1, region of interest 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8UWB	X-RAY DIFFRACTION	3.15

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q16537-F1	89.05	0.78

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 (5): 2, 7, 30, 32, 34

Function

Pathways and Gene Ontology

Reactome pathways

55 pathways

ID	Pathway
R-HSA-141444	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-195253	Degradation of beta-catenin by the destruction complex
R-HSA-196299	Beta-catenin phosphorylation cascade
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-6811558	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
R-HSA-68877	Mitotic Prometaphase
R-HSA-9648025	EML4 and NUDC in mitotic spindle formation
R-HSA-109582	Hemostasis
R-HSA-1257604	PIP3 activates AKT signaling
R-HSA-1280218	Adaptive Immune System
R-HSA-141424	Amplification of signal from the kinetochores
R-HSA-162582	Signal Transduction
R-HSA-1640170	Cell Cycle
R-HSA-1643685	Disease

MSigDB gene sets: 249 (showing top): TAATAAT_MIR126, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, SP3_Q3, AAAYRNCTG_UNKNOWN, MORF_PSMC2, CAGCTG_AP4_Q5, REACTOME_CO_STIMULATION_BY_CD28, ATGTTAA_MIR302C, ZHAN_MULTIPLE_MYELOMA_CD1_UP, PUJANA_CHEK2_PCC_NETWORK, NFKB_C, MORF_RAF1, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, SYED_ESTRADIOL_RESPONSE, WTGAAAT_UNKNOWN

GO Biological Process (1): signal transduction (GO:0007165)

GO Molecular Function (3): protein phosphatase regulator activity (GO:0019888), protein phosphatase activator activity (GO:0072542), protein binding (GO:0005515)

GO Cellular Component (6): protein phosphatase type 2A complex (GO:0000159), nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), sperm midpiece (GO:0097225), sperm principal piece (GO:0097228)

Reactome top-level categories

Rollup of top-15 pathways:

Category	Pathways
Signaling by CTNNB1 phospho-site mutants	4
Regulation of T cell activation by CD28 family	2
RAF/MAP kinase cascade	2
Amplification of signal from the kinetochores	1
Signaling by WNT	1
Degradation of beta-catenin by the destruction complex	1
Mitotic Anaphase	1
Mitotic Prometaphase	1
Platelet homeostasis	1
TCF dependent signaling in response to WNT	1
Signaling by WNT in cancer	1
Signaling by APC mutants	1
Signaling by AXIN mutants	1
Signaling by AMER1 mutants	1
RHO GTPase Effectors	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
phosphoprotein phosphatase activity	2
sperm flagellum	2
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
phosphatase regulator activity	1
protein phosphatase binding	1
phosphatase activator activity	1
protein phosphatase regulator activity	1
binding	1
protein serine/threonine phosphatase complex	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

1513 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PPP2R5E	PPP2R2A	P50409	926
PPP2R5E	PPP2CA	P05323	785
PPP2R5E	PPP2R1A	P30153	776
PPP2R5E	PPP2R2D	Q66LE6	739
PPP2R5E	PPP2R3A	Q06190	669
PPP2R5E	PPP2R5A	Q15172	662
PPP2R5E	PPP2R1B	P30154	644
PPP2R5E	MTCL1	Q9Y4B5	572
PPP2R5E	MINK1	Q8N4C8	569
PPP2R5E	PPP2R3B	Q9Y5P8	569
PPP2R5E	PPP2R2B	Q00005	560
PPP2R5E	PPP2CB	P11082	533
PPP2R5E	STRN	O43815	532
PPP2R5E	PPP2R3C	Q969Q6	521
PPP2R5E	PPP2R2C	Q9Y2T4	495

IntAct

188 interactions, top by confidence:

A	B	Type	Score
PPP2R1A	STRN	psi-mi:“MI:0914”(association)	0.880
PPP2R1A	STRN	psi-mi:“MI:2364”(proximity)	0.880
PPP2CA	STRN	psi-mi:“MI:0914”(association)	0.840
PPP2CB	STRN	psi-mi:“MI:0914”(association)	0.790
PRR14	PPP2R1A	psi-mi:“MI:0914”(association)	0.790
PPP2R1B	STRN	psi-mi:“MI:0914”(association)	0.730
PPP2CB	CEP43	psi-mi:“MI:0914”(association)	0.730
FAM9C	NDC80	psi-mi:“MI:0914”(association)	0.670
PPP2R1A	PPFIA3	psi-mi:“MI:0914”(association)	0.670
VSIG1	TTI1	psi-mi:“MI:0914”(association)	0.640
ZFPL1	PPP2R5E	psi-mi:“MI:0914”(association)	0.640
PPP2R1B	PPP2R5E	psi-mi:“MI:0915”(physical association)	0.630
PPP2R5E	RACGAP1	psi-mi:“MI:0915”(physical association)	0.590
RACGAP1	PPP2R5E	psi-mi:“MI:0407”(direct interaction)	0.590
DZIP1	PPP2R5E	psi-mi:“MI:0915”(physical association)	0.580
PPP2R5E	DZIP1	psi-mi:“MI:0915”(physical association)	0.580
Ppp2r1a	FECH	psi-mi:“MI:0915”(physical association)	0.560
	PPP2R5E	psi-mi:“MI:0915”(physical association)	0.560
PPP2R5E		psi-mi:“MI:0915”(physical association)	0.560
HTT	PPP2R5E	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (187): PPP2R5E (Two-hybrid), PPP2R5E (Affinity Capture-Western), PPP2R5E (Two-hybrid), PPP2R5E (Two-hybrid), PPP2R5E (Two-hybrid), PPP2R5E (Two-hybrid), PPP2R5E (Two-hybrid), PPP2R5E (Two-hybrid), PPP2R5E (Two-hybrid), PPP2R5E (Two-hybrid), PPP2R5E (Two-hybrid), RORC (Two-hybrid), PPP2R5E (Two-hybrid), PPP2R5E (Two-hybrid), PPP2R5E (Two-hybrid)

ESM2 similar proteins: A2VE70, A4FV68, E0CZ22, O04375, O04376, O35638, O43156, P50851, Q08AM6, Q0V9L1, Q13362, Q15172, Q15173, Q16537, Q28647, Q28651, Q5ZIW5, Q60996, Q61151, Q66L58, Q68F38, Q68F70, Q6DCF2, Q6I621, Q6PD03, Q6PD28, Q80TR8, Q80W83, Q80W92, Q80WQ2, Q8C0Y0, Q8CIM8, Q8JGR7, Q8K2Z4, Q8LF36, Q8N3U4, Q8RW96, Q8WVM7, Q91V83, Q96HW7

Diamond homologs: A4FV68, O04375, O04376, O18178, P38903, P78759, Q10428, Q13362, Q14738, Q15172, Q15173, Q16537, Q28647, Q28651, Q28653, Q28654, Q54VB6, Q60996, Q61151, Q6I621, Q6PD03, Q6PD28, Q80W83, Q8LF36, Q8RW96, Q93YV6, Q9LU89, Q9LVE2, Q9SV41, Q9ZQY6

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
KLHL42	“down-regulates quantity by destabilization”	PPP2R5E	polyubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 168 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	6	41.1×	2e-07
CTNNB1 S33 mutants aren’t phosphorylated	6	41.1×	2e-07
CTNNB1 S37 mutants aren’t phosphorylated	6	41.1×	2e-07
CTNNB1 S45 mutants aren’t phosphorylated	6	41.1×	2e-07
CTNNB1 T41 mutants aren’t phosphorylated	6	41.1×	2e-07
Beta-catenin phosphorylation cascade	6	36.3×	5e-07
Platelet sensitization by LDL	5	30.3×	1e-05
Co-inhibition by CTLA4	6	28.1×	2e-06

GO biological processes:

GO term	Partners	Fold	FDR
response to lead ion	5	33.2×	3e-04
spindle assembly	5	15.7×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	14
Likely benign	1
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

2491 predictions. Top by Δscore:

Variant	Effect	Δscore
14:63382054:A:AC	donor_gain	1.0000
14:63382055:C:CC	donor_gain	1.0000
14:63382055:CCG:C	donor_gain	1.0000
14:63382062:CGAT:C	donor_gain	1.0000
14:63382153:TAGCC:T	acceptor_gain	1.0000
14:63382154:AGCC:A	acceptor_gain	1.0000
14:63382155:GCC:G	acceptor_gain	1.0000
14:63382156:CC:C	acceptor_gain	1.0000
14:63382156:CCC:C	acceptor_gain	1.0000
14:63382157:CC:C	acceptor_gain	1.0000
14:63382158:C:CC	acceptor_gain	1.0000
14:63382158:C:CG	acceptor_loss	1.0000
14:63382158:C:T	acceptor_gain	1.0000
14:63382166:C:CT	acceptor_gain	1.0000
14:63382168:C:CT	acceptor_gain	1.0000
14:63382169:A:T	acceptor_gain	1.0000
14:63384442:A:AC	donor_gain	1.0000
14:63384443:C:CC	donor_gain	1.0000
14:63384443:CGGA:C	donor_gain	1.0000
14:63389607:CTAA:C	donor_loss	1.0000
14:63389608:TAA:T	donor_loss	1.0000
14:63389610:ACCT:A	donor_loss	1.0000
14:63389611:CCTG:C	donor_loss	1.0000
14:63389729:GACC:G	acceptor_loss	1.0000
14:63389730:ACC:A	acceptor_loss	1.0000
14:63389731:CCT:C	acceptor_loss	1.0000
14:63389733:T:A	acceptor_loss	1.0000
14:63391970:A:AC	donor_gain	1.0000
14:63391971:C:CC	donor_gain	1.0000
14:63393814:TCCTA:T	donor_loss	1.0000

AlphaMissense

3092 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:63382086:A:G	L425P	1.000
14:63382094:A:C	F422L	1.000
14:63382094:A:T	F422L	1.000
14:63382096:A:G	F422L	1.000
14:63384449:C:A	W399C	1.000
14:63384449:C:G	W399C	1.000
14:63384451:A:G	W399R	1.000
14:63384451:A:T	W399R	1.000
14:63384547:A:G	W367R	1.000
14:63384547:A:T	W367R	1.000
14:63384555:A:G	L364P	1.000
14:63384560:T:A	R362S	1.000
14:63384560:T:G	R362S	1.000
14:63389615:A:C	F357L	1.000
14:63389615:A:T	F357L	1.000
14:63389617:A:G	F357L	1.000
14:63389721:A:G	L322P	1.000
14:63391841:C:A	W310C	1.000
14:63391841:C:G	W310C	1.000
14:63391843:A:G	W310R	1.000
14:63391843:A:T	W310R	1.000
14:63391993:T:A	K294N	1.000
14:63391993:T:G	K294N	1.000
14:63391994:T:A	K294I	1.000
14:63391995:T:C	K294E	1.000
14:63392002:A:C	F291L	1.000
14:63392002:A:T	F291L	1.000
14:63392003:A:G	F291S	1.000
14:63392004:A:G	F291L	1.000
14:63392005:C:A	Q290H	1.000

dbSNP variants (sampled 300 via entrez): RS1000005859 (14:63482705 A>C), RS1000037408 (14:63427050 T>C,G), RS1000039413 (14:63533656 A>G), RS1000046162 (14:63407944 A>C), RS1000071638 (14:63519229 A>C), RS1000104850 (14:63493990 G>A), RS1000107147 (14:63442562 TGA>T), RS1000116424 (14:63516102 G>A,C), RS1000155103 (14:63467789 G>A,C), RS1000162467 (14:63477128 C>T), RS1000169395 (14:63476531 A>C), RS1000182840 (14:63473291 A>G), RS1000210603 (14:63391481 G>A), RS1000214263 (14:63477342 TAAC>T), RS1000221081 (14:63436401 A>T)

Disease associations

OMIM: gene MIM:601647 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST001095_9	Response to antineoplastic agents	9.000000e-07
GCST004279_16	Systolic blood pressure	4.000000e-09
GCST010173_163	Triglyceride levels	1.000000e-08
GCST010204_187	Low density lipoprotein cholesterol levels	7.000000e-12
GCST011769_7	Schizophrenia	3.000000e-08

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0006335	systolic blood pressure
EFO:0004530	triglyceride measurement
EFO:0004611	low density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs1271562	PPP2R5E		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, affects cotreatment	5
bisphenol A	decreases expression, decreases methylation	2
sodium arsenite	increases abundance, increases expression	2
Air Pollutants	affects expression, increases abundance, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
echimidine	increases expression, increases metabolic processing	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
tetrabromobisphenol A	decreases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
coumarin	decreases phosphorylation	1
perfluorooctane sulfonic acid	decreases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dimethylarsinous acid	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
jinfukang	decreases expression	1
Acetaminophen	decreases expression	1
Arsenic	increases expression, increases abundance	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Caffeine	decreases phosphorylation	1
Camptothecin	decreases reaction, increases expression, decreases response to substance, affects binding, affects localization	1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2BY	Abcam HeLa PPP2R5E KO	Cancer cell line	Female
CVCL_D8TM	Ubigene HCT 116 PPP2R5E KO	Cancer cell line	Male
CVCL_TG12	HAP1 PPP2R5E (-) 1	Cancer cell line	Male
CVCL_TG13	HAP1 PPP2R5E (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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