PPP2R5B

Summary

PPP2R5B (protein phosphatase 2 regulatory subunit B’beta, HGNC:9310) is a protein-coding gene on chromosome 11q13.1, encoding Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit beta isoform (Q15173). As the regulatory component of the serine/threonine-protein phosphatase 2A (PP2A) holoenzyme, modulates substrate specificity, subcellular localization, and responsiveness to phosphorylation.

The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B56 subfamily.

Source: NCBI Gene 5526 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 99 total
• MANE Select transcript: NM_006244

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9310
Approved symbol	PPP2R5B
Name	protein phosphatase 2 regulatory subunit B’beta
Location	11q13.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ35411, B56B, PR61B, B56beta
Ensembl gene	ENSG00000068971
Ensembl biotype	protein_coding
OMIM	601644
Entrez	5526

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 27 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000164133, ENST00000413292, ENST00000526559, ENST00000528530, ENST00000532850, ENST00000872717, ENST00000872718, ENST00000872719, ENST00000872720, ENST00000872721, ENST00000872722, ENST00000872723, ENST00000872724, ENST00000872725, ENST00000872726, ENST00000872727, ENST00000872728, ENST00000872729, ENST00000872730, ENST00000872731, ENST00000872732, ENST00000872733, ENST00000921545, ENST00000966953, ENST00000966954, ENST00000966955, ENST00000966956, ENST00000966957, ENST00000966958

RefSeq mRNA: 1 — MANE Select: NM_006244 NM_006244

CCDS: CCDS8085

Canonical transcript exons

ENST00000164133 — 14 exons

Exon	Start	End
ENSE00000730321	64930481	64930589
ENSE00000730323	64930322	64930381
ENSE00000730327	64927802	64927903
ENSE00001063424	64925471	64925933
ENSE00002182961	64924689	64925028
ENSE00002433706	64933697	64934475
ENSE00002440825	64933145	64933246
ENSE00002472647	64931749	64931868
ENSE00002487565	64931436	64931489
ENSE00002488395	64931559	64931609
ENSE00002531771	64932765	64932892
ENSE00003555198	64926712	64926908
ENSE00003645748	64928295	64928425
ENSE00003787651	64928066	64928158

Expression profiles

Bgee: expression breadth ubiquitous, 258 present calls, max score 97.95.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.5673 / max 163.6229, expressed in 1771 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
115006	13.5971	1757
115005	0.9702	625

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	97.95	gold quality
cerebellar hemisphere	UBERON:0002245	97.79	gold quality
cerebellar cortex	UBERON:0002129	97.76	gold quality
cerebellum	UBERON:0002037	97.25	gold quality
paraflocculus	UBERON:0005351	96.70	gold quality
pons	UBERON:0000988	96.50	gold quality
right frontal lobe	UBERON:0002810	95.81	gold quality
prefrontal cortex	UBERON:0000451	95.49	gold quality
cerebellar vermis	UBERON:0004720	95.39	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	95.25	gold quality
nucleus accumbens	UBERON:0001882	95.14	gold quality
lateral nuclear group of thalamus	UBERON:0002736	94.73	gold quality
cingulate cortex	UBERON:0003027	94.47	gold quality
Brodmann (1909) area 9	UBERON:0013540	94.42	gold quality
anterior cingulate cortex	UBERON:0009835	94.40	gold quality
type B pancreatic cell	CL:0000169	94.08	silver quality
frontal cortex	UBERON:0001870	93.91	gold quality
inferior olivary complex	UBERON:0002127	93.79	gold quality
caudate nucleus	UBERON:0001873	93.63	gold quality
hypothalamus	UBERON:0001898	93.61	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	93.61	gold quality
neocortex	UBERON:0001950	93.60	gold quality
putamen	UBERON:0001874	93.53	gold quality
superior vestibular nucleus	UBERON:0007227	93.14	gold quality
brain	UBERON:0000955	93.12	gold quality
central nervous system	UBERON:0001017	93.08	gold quality
Brodmann (1909) area 10	UBERON:0013541	93.08	gold quality
dorsal root ganglion	UBERON:0000044	92.98	gold quality
amygdala	UBERON:0001876	92.95	gold quality
cortical plate	UBERON:0005343	92.87	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.81

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

51 targeting PPP2R5B, 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-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-4708-3P	99.51	67.99	870
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-130A-5P	99.33	70.26	2623
HSA-MIR-7515	99.31	68.22	1795
HSA-MIR-361-3P	99.19	66.45	1381
HSA-MIR-6809-5P	99.13	68.45	1223
HSA-MIR-491-5P	99.13	65.98	1468
HSA-MIR-3127-3P	98.94	67.34	1055
HSA-MIR-6756-3P	98.94	66.79	1104
HSA-MIR-3154	98.94	66.55	1455
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-5000-3P	98.79	65.63	1251
HSA-MIR-4656	98.79	66.22	1306

Literature-anchored findings (GeneRIF, showing 4)

• PP2A-Bbeta promotes cell migration through the MAPK cascade. (PMID:15665512)
• KLHL15 can interact with the PP2A/B’beta heterotrimer, it only degrades B’beta, thus promoting exchange with other regulatory subunits. (PMID:23135275)
• Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth (PMID:25972378)
• knockdown of B56beta attenuates hemin-induced K562 erythroid differentiation. (PMID:27544028)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	ppp2r5b	ENSDARG00000054931
mus_musculus	Ppp2r5b	ENSMUSG00000024777
rattus_norvegicus	Ppp2r5b	ENSRNOG00000021025
drosophila_melanogaster	wdb	FBGN0027492
caenorhabditis_elegans		WBGENE00007554
caenorhabditis_elegans		WBGENE00012348

Paralogs (4): PPP2R5A (ENSG00000066027), PPP2R5C (ENSG00000078304), PPP2R5D (ENSG00000112640), PPP2R5E (ENSG00000154001)

Protein

Protein identifiers

Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit beta isoform — Q15173 (reviewed: Q15173)

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

All UniProt accessions (3): Q15173, E9PNY3, E9PQN5

UniProt curated annotations — full annotation on UniProt →

Function. As the regulatory component of the serine/threonine-protein phosphatase 2A (PP2A) holoenzyme, modulates substrate specificity, subcellular localization, and responsiveness to phosphorylation. The phosphorylated form mediates the interaction between PP2A and AKT1, leading to AKT1 dephosphorylation.

Subunit / interactions. Component of the serine/threonine-protein phosphatase 2A complex (PP2A). This complex consists of a common heterodimeric core enzyme, composed of a 36 kDa catalytic subunit (subunit C) and a 65 kDa constant scaffold 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. Interacts with AKT1. Interacts with CUL3 and KLHL15; this interaction leads to proteasomal degradation.

Subcellular location. Cytoplasm.

Tissue specificity. Highest expression in brain.

Post-translational modifications. Ubiquitinated by E3 CUL3-KLHL15 complex; this modification leads to proteasomal degradation.

Induction. By retinoic acid; in neuroblastoma cell lines.

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

Isoforms (2)

UniProt ID	Names	Canonical?
Q15173-1	Beta-1	yes
Q15173-2	Beta-2

RefSeq proteins (1): NP_006235* (*=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 (21 total): modified residue 6, sequence conflict 5, mutagenesis site 3, region of interest 2, compositionally biased region 2, chain 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15173-F1	86.73	0.75

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 (6): 48, 32, 35, 44, 46, 47

Mutagenesis-validated functional residues (3):

Position	Phenotype
52	loss of klhl15-binding and enhanced stability.
103–104	impaired trimer formation with pp2a subunits a/c, no effect on klhl15-binding.
232–233	impaired trimer formation with pp2a subunits a/c, no effect on klhl15-binding.

Function

Pathways and Gene Ontology

Reactome pathways

60 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-381038	XBP1(S) activates chaperone genes
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

MSigDB gene sets: 252 (showing top): AP1_01, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, REACTOME_UNFOLDED_PROTEIN_RESPONSE_UPR, MORF_MSH3, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GCANCTGNY_MYOD_Q6, MORF_BRCA1, GOBP_NEUROGENESIS, BROWNE_HCMV_INFECTION_16HR_UP, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GGGTGGRR_PAX4_03, GGAMTNNNNNTCCY_UNKNOWN, chr11q13, REACTOME_CO_STIMULATION_BY_CD28, MORF_RAD51L3

GO Biological Process (8): signal transduction (GO:0007165), positive regulation of neuron projection development (GO:0010976), positive regulation of protein-containing complex assembly (GO:0031334), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388), negative regulation of G0 to G1 transition (GO:0070317), cellular response to growth factor stimulus (GO:0071363), regulation of cell cycle (GO:0051726)

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

GO Cellular Component (4): protein phosphatase type 2A complex (GO:0000159), nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-16 pathways:

Category	Pathways
Signaling by CTNNB1 phospho-site mutants	4
Regulation of T cell activation by CD28 family	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
IRE1alpha activates chaperones	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
regulation of cellular process	2
phosphoprotein phosphatase activity	2
cellular anatomical structure	2
cell communication	1
cellular process	1
signaling	1
cellular response to stimulus	1
regulation of neuron projection development	1
neuron projection development	1
positive regulation of cell projection organization	1
regulation of protein-containing complex assembly	1
positive regulation of cellular component biogenesis	1
positive regulation of cellular component organization	1
protein-containing complex assembly	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
positive regulation of signal transduction	1
neurotrophin TRK receptor signaling pathway	1
regulation of neurotrophin TRK receptor signaling pathway	1
negative regulation of cell cycle process	1
G0 to G1 transition	1
regulation of G0 to G1 transition	1
response to growth factor	1
cellular response to endogenous stimulus	1
cell cycle	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

1273 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PPP2R5B	PPP2R3A	Q06190	805
PPP2R5B	PPP2R2A	P50409	795
PPP2R5B	GPHA2	Q96T91	791
PPP2R5B	PPP2R2D	Q66LE6	736
PPP2R5B	PPP2R2B	Q00005	716
PPP2R5B	PPP2R5C	Q13362	700
PPP2R5B	PPP2R5A	Q15172	659
PPP2R5B	PPP2CA	P05323	655
PPP2R5B	PPP2R1A	P30153	646
PPP2R5B	PPP2R3B	Q9Y5P8	644
PPP2R5B	PPP2CB	P11082	636
PPP2R5B	PPP2R3C	Q969Q6	623
PPP2R5B	PPP2R2C	Q9Y2T4	612
PPP2R5B	MINK1	Q8N4C8	575
PPP2R5B	GPHB5	Q86YW7	547

IntAct

37 interactions, top by confidence:

A	B	Type	Score
PPP2R5B	PPP2CA	psi-mi:“MI:0915”(physical association)	0.910
PPP2CA	PPP2R5B	psi-mi:“MI:0915”(physical association)	0.910
PPP2R1A	STRN	psi-mi:“MI:0914”(association)	0.880
PPP2CA	STRN	psi-mi:“MI:0914”(association)	0.840
PPP2CB	STRN	psi-mi:“MI:0914”(association)	0.790
PPP2R1A	PPP2R5B	psi-mi:“MI:0915”(physical association)	0.740
PPP2R1A	PPFIA3	psi-mi:“MI:0914”(association)	0.670
FAM43A	FTL	psi-mi:“MI:0914”(association)	0.530
WNT3A	CANX	psi-mi:“MI:0914”(association)	0.530
SGO1	USP12	psi-mi:“MI:0914”(association)	0.530
PPP2R5B	IER3	psi-mi:“MI:0915”(physical association)	0.520
CHEK2	PPP2R5B	psi-mi:“MI:0915”(physical association)	0.510
PPP2R5B	CHEK2	psi-mi:“MI:0915”(physical association)	0.510
PPP2CA	SMCO3	psi-mi:“MI:0914”(association)	0.420
Ppp2ca	PPP2R5B	psi-mi:“MI:0915”(physical association)	0.400
DZIP1	PPP2R5B	psi-mi:“MI:0915”(physical association)	0.370
PPP2CA	ENSA	psi-mi:“MI:0914”(association)	0.350
PPP2CA	SUPT5H	psi-mi:“MI:0914”(association)	0.350
SGO1	RPSA2	psi-mi:“MI:0914”(association)	0.350
GRIN2A	ABCD4	psi-mi:“MI:0914”(association)	0.350
KNDC1	ASAP2	psi-mi:“MI:0914”(association)	0.350
PPP2R5B	USP19	psi-mi:“MI:0914”(association)	0.350
CRYBG1	NEFL	psi-mi:“MI:0914”(association)	0.350
C1orf21	PPP2R1A	psi-mi:“MI:0914”(association)	0.350

BioGRID (52): PPP2R5B (Affinity Capture-MS), PPP2R5B (Affinity Capture-MS), PPP2R5B (Affinity Capture-Western), PIM1 (Affinity Capture-Western), PPP2R5B (Affinity Capture-MS), PPP2R5B (Affinity Capture-MS), PPP2R5B (Affinity Capture-MS), PPP2R5B (Affinity Capture-MS), PPP2R5B (Affinity Capture-MS), PPP2R5B (Synthetic Lethality), PPP2R1A (Two-hybrid), PPP2R5B (Affinity Capture-Western), PPP2R5B (Affinity Capture-MS), USP19 (Affinity Capture-MS), PPP2R5B (Affinity Capture-MS)

ESM2 similar proteins: A0JNG7, A0JPF5, A0JPG1, A2VE70, B4F766, O70481, P50851, Q05DH4, Q08AM6, Q0P4Q0, Q0VGW0, Q15173, Q28BM0, Q293C2, Q3UHQ6, Q4S6U8, Q5RAW5, Q5SP90, Q5T2E6, Q5W0V3, Q5ZIW5, Q5ZLW3, Q68F38, Q68F70, Q6DCP6, Q6DCT2, Q6GPP1, Q6INN7, Q6PD19, Q6PGW3, Q6ZS30, Q7KNA0, Q7RTS9, Q80TR8, Q80W92, Q80WQ2, Q80YR2, Q86V87, Q8CDM8, Q8CHY3

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

7 interactions.

A	Effect	B	Mechanism
PPP2R5B	up-regulates	CASP3	dephosphorylation
PPP2R5B	down-regulates	AKT	dephosphorylation
PPP2R5B	down-regulates	BCL2	dephosphorylation
PPP2R5B	down-regulates	AKT1	dephosphorylation
PPP2R5B	“up-regulates activity”	KIF20A	dephosphorylation
KLHL15	“down-regulates quantity by destabilization”	PPP2R5B	binding
“Cullin 3-RBX1-Skp1”	“down-regulates quantity by destabilization”	PPP2R5B	polyubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 32 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
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	5	22.0×	4e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	57
Likely benign	19
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

1981 predictions. Top by Δscore:

Variant	Effect	Δscore
11:64925024:GAGAA:G	donor_gain	1.0000
11:64925026:GAA:G	donor_gain	1.0000
11:64925029:G:GG	donor_gain	1.0000
11:64925931:AAGG:A	donor_loss	1.0000
11:64925934:GTGA:G	donor_loss	1.0000
11:64925935:T:G	donor_loss	1.0000
11:64926904:GCATG:G	donor_gain	1.0000
11:64926907:TGGT:T	donor_loss	1.0000
11:64926909:G:GG	donor_gain	1.0000
11:64926909:GTGA:G	donor_loss	1.0000
11:64926910:T:A	donor_loss	1.0000
11:64928064:A:AG	acceptor_gain	1.0000
11:64928064:AGCT:A	acceptor_gain	1.0000
11:64928065:G:GG	acceptor_gain	1.0000
11:64928065:GCTG:G	acceptor_gain	1.0000
11:64928146:G:GG	donor_gain	1.0000
11:64928161:G:GT	donor_gain	1.0000
11:64928293:A:AG	acceptor_gain	1.0000
11:64928293:A:AT	acceptor_loss	1.0000
11:64928294:G:GA	acceptor_gain	1.0000
11:64928294:GC:G	acceptor_gain	1.0000
11:64928294:GCT:G	acceptor_gain	1.0000
11:64928294:GCTC:G	acceptor_gain	1.0000
11:64928294:GCTCC:G	acceptor_gain	1.0000
11:64928422:TCCG:T	donor_gain	1.0000
11:64928423:CCG:C	donor_gain	1.0000
11:64928423:CCGG:C	donor_loss	1.0000
11:64928424:CGG:C	donor_loss	1.0000
11:64928426:G:GG	donor_gain	1.0000
11:64928427:T:A	donor_loss	1.0000

AlphaMissense

3245 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:64926812:G:C	K100N	1.000
11:64926812:G:T	K100N	1.000
11:64926821:G:C	K103N	1.000
11:64926821:G:T	K103N	1.000
11:64926832:T:C	L107P	1.000
11:64927889:T:A	W162R	1.000
11:64927889:T:C	W162R	1.000
11:64927891:G:C	W162C	1.000
11:64927891:G:T	W162C	1.000
11:64928331:C:A	R210S	1.000
11:64928341:T:C	L213P	1.000
11:64928343:A:G	K214E	1.000
11:64928345:G:C	K214N	1.000
11:64928345:G:T	K214N	1.000
11:64928353:T:C	L217P	1.000
11:64928355:C:A	H218N	1.000
11:64928355:C:G	H218D	1.000
11:64928356:A:G	H218R	1.000
11:64928357:C:A	H218Q	1.000
11:64928357:C:G	H218Q	1.000
11:64928359:G:C	R219P	1.000
11:64928367:G:C	G222R	1.000
11:64928368:G:A	G222D	1.000
11:64928397:C:A	R232S	1.000
11:64930350:G:C	G251R	1.000
11:64930351:G:A	G251D	1.000
11:64930351:G:T	G251V	1.000
11:64930366:T:C	L256P	1.000
11:64930377:G:A	G260R	1.000
11:64930377:G:C	G260R	1.000

dbSNP variants (sampled 300 via entrez): RS1000041199 (11:64918129 C>T), RS1000147650 (11:64924223 G>A), RS1000178618 (11:64923895 T>G), RS1000287192 (11:64930269 G>T), RS1000353818 (11:64934432 T>G), RS1000471327 (11:64927319 C>G), RS1000497536 (11:64917806 G>A), RS1000516015 (11:64922375 C>T), RS1000697180 (11:64928710 C>G,T), RS1000761486 (11:64930049 T>A), RS1000775364 (11:64916809 G>A,T), RS1000846789 (11:64922880 A>G), RS1000900861 (11:64923338 C>T), RS1001124227 (11:64916395 G>A,T), RS1001269521 (11:64929260 C>A,T)

Disease associations

OMIM: gene MIM:601644 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010512_14	Serum uric acid levels	7.000000e-16

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004761	uric acid measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
Copper	affects binding, increases expression	2
Valproic Acid	affects expression, increases methylation	2
Particulate Matter	increases abundance, increases expression	2
aristolochic acid I	increases expression	1
1-cyclopropyl-4-(4-((5-methyl-3-(3-(4-(trifluoromethoxy)phenyl)-1,2,4-oxadiazol-5-yl)-1H-pyrazol-1-yl)methyl)pyridin-2-yl)piperazine	increases expression, decreases reaction	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
trichostatin A	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
nickel sulfate	increases expression	1
microcystin RR	increases expression	1
abrine	increases expression	1
NSC 689534	affects binding, increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Calcitriol	increases expression, affects cotreatment	1
Chelating Agents	affects binding, increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Diazinon	increases methylation	1
Doxorubicin	decreases expression	1
Oxygen	decreases reaction, increases expression	1
Smoke	increases expression	1
Testosterone	affects cotreatment, increases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
Cyclosporine	increases expression	1
Cadmium Chloride	decreases response to substance	1
Zinc Sulfate	decreases response to substance	1

Cellosaurus cell lines

3 cell lines: 2 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D9P5	Ubigene HEK293 PPP2R5B KO	Transformed cell line	Female
CVCL_TG07	HAP1 PPP2R5B (-) 1	Cancer cell line	Male
CVCL_TG08	HAP1 PPP2R5B (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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