PPP2R3A

Summary

PPP2R3A (protein phosphatase 2 regulatory subunit B’‘alpha, HGNC:9307) is a protein-coding gene on chromosome 3q22.2-q22.3, encoding Serine/threonine-protein phosphatase 2A regulatory subunit B’’ subunit alpha (Q06190). 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.

This gene encodes one of the regulatory subunits of the protein phosphatase 2. Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B’/PR61, and B’’/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B’’ family. The B’’ family has been further divided into subfamilies. The product of this gene belongs to the alpha subfamily of regulatory subunit B’’. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 5523 — RefSeq curated summary.

At a glance

• GWAS associations: 33
• Clinical variants (ClinVar): 211 total
• MANE Select transcript: NM_002718

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9307
Approved symbol	PPP2R3A
Name	protein phosphatase 2 regulatory subunit B’‘alpha
Location	3q22.2-q22.3
Locus type	gene with protein product
Status	Approved
Aliases	PR130, PR72
Ensembl gene	ENSG00000073711
Ensembl biotype	protein_coding
OMIM	604944
Entrez	5523

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 13 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000264977, ENST00000334546, ENST00000447251, ENST00000469270, ENST00000490467, ENST00000872859, ENST00000872860, ENST00000872861, ENST00000872862, ENST00000872863, ENST00000930197, ENST00000930198, ENST00000930199, ENST00000930200, ENST00000954297

RefSeq mRNA: 3 — MANE Select: NM_002718 NM_001190447, NM_002718, NM_181897

CCDS: CCDS3087, CCDS3088, CCDS54642

Canonical transcript exons

ENST00000264977 — 14 exons

Exon	Start	End
ENSE00000778525	136078367	136078453
ENSE00001078901	136090578	136090667
ENSE00001078907	136087883	136087931
ENSE00001163075	136049259	136049361
ENSE00001163086	136040859	136040962
ENSE00001183945	136102007	136102182
ENSE00001183986	136001059	136003493
ENSE00001246917	136145043	136147894
ENSE00001696252	136070478	136070552
ENSE00001849646	135965728	135965849
ENSE00003572326	136103258	136103376
ENSE00003585632	136026832	136027098
ENSE00003682607	136106216	136106322
ENSE00003690894	136082265	136082421

Expression profiles

Bgee: expression breadth ubiquitous, 292 present calls, max score 98.83.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.9191 / max 170.6422, expressed in 1546 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
38729	9.4905	1524
38731	0.6045	367
38736	0.4527	46
38730	0.3904	218
38732	0.3793	199
38733	0.3247	156
38737	0.2130	36
38734	0.0231	14
38738	0.0153	11
38739	0.0138	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
biceps brachii	UBERON:0001507	98.83	gold quality
vastus lateralis	UBERON:0001379	98.82	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	98.74	gold quality
quadriceps femoris	UBERON:0001377	98.63	gold quality
triceps brachii	UBERON:0001509	98.60	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	98.53	gold quality
diaphragm	UBERON:0001103	98.46	gold quality
gluteal muscle	UBERON:0002000	98.01	gold quality
deltoid	UBERON:0001476	97.92	gold quality
skeletal muscle tissue	UBERON:0001134	97.38	gold quality
body of tongue	UBERON:0011876	97.34	gold quality
left ventricle myocardium	UBERON:0006566	97.04	gold quality
tibialis anterior	UBERON:0001385	97.00	gold quality
heart right ventricle	UBERON:0002080	96.96	gold quality
muscle tissue	UBERON:0002385	95.53	gold quality
myocardium	UBERON:0002349	95.34	gold quality
upper leg skin	UBERON:0004262	95.15	gold quality
hindlimb stylopod muscle	UBERON:0004252	94.83	gold quality
skin of hip	UBERON:0001554	94.81	gold quality
parotid gland	UBERON:0001831	94.12	gold quality
renal medulla	UBERON:0000362	93.44	gold quality
cardiac muscle of right atrium	UBERON:0003379	93.39	gold quality
muscle organ	UBERON:0001630	93.07	gold quality
skeletal muscle organ	UBERON:0014892	93.07	gold quality
sperm	CL:0000019	92.90	gold quality
nephron tubule	UBERON:0001231	92.18	gold quality
tongue	UBERON:0001723	92.01	gold quality
upper arm skin	UBERON:0004263	91.53	gold quality
muscle of leg	UBERON:0001383	91.01	gold quality
buccal mucosa cell	CL:0002336	90.78	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.58
E-MTAB-8060	no	95.31

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

144 targeting PPP2R3A, 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-4262	100.00	73.26	3931
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
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-513B-5P	99.99	69.96	2150
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-128-3P	99.95	71.17	2484

Literature-anchored findings (GeneRIF, showing 10)

• two Ca2+-binding EF-hand motifs in the B"/PR72 subunit of protein phosphatase 2A demonstrating the ability or calcium ions to interact with and regulate PP2A (PMID:12524438)
• PR72 interacts physically and functionally with Naked cuticle. PR72, like Naked cuticle, acts as a negative regulator of the classical Wnt signaling cascade. (PMID:15687260)
• The B’’/PR72 subunit mediates Ca2+-dependent dephosphorylation of DARPP-32 by protein phosphatase 2A. (PMID:17535922)
• PP2A can be targeted in a calcium-regulated manner to Cdc6 via the PR70 subunit, where it plays a role in regulating protein phosphorylation and stability. (PMID:18397887)
• this study shows the importance of PP2A complexes with the LIM domains of lipoma-preferred partner in cell adhesion and migration dynamics (PMID:26945059)
• HDAC1 and HDAC2 suppress the expression of PPP2R3A/PR130, a regulatory subunit of the trimeric serine/threonine phosphatase 2 (PP2A). (PMID:29472538)
• [Functional Hypermethylation of ALDH1L1, PLCL2, and PPP2R3A in Colon Cancer]. (PMID:32392189)
• The PP2A subunit PR130 is a key regulator of cell development and oncogenic transformation. (PMID:33068647)
• A novel dephosphorylation targeting chimera selectively promoting tau removal in tauopathies. (PMID:34262014)
• Overexpression of Protein Phosphatase 2 Regulatory Subunit B"“Alpha Promotes Glycolysis by Regulating Hexokinase 1 in Hepatocellular Carcinoma. (PMID:35945177)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ppp2r3a	ENSDARG00000077722
mus_musculus	Ppp2r3a	ENSMUSG00000043154
rattus_norvegicus	Ppp2r3a	ENSRNOG00000022999

Paralogs (1): PPP2R3B (ENSG00000167393)

Protein

Protein identifiers

Serine/threonine-protein phosphatase 2A regulatory subunit B’’ subunit alpha — Q06190 (reviewed: Q06190)

Alternative names: PP2A subunit B isoform PR72/PR130, PP2A subunit B isoform R3 isoform, PP2A subunit B isoforms B’’-PR72/PR130, PP2A subunit B isoforms B72/B130, Serine/threonine-protein phosphatase 2A 72/130 kDa regulatory subunit B

All UniProt accessions (2): Q06190, H7C1M1

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. 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.

Tissue specificity. Expressed in heart, brain, placenta, lung, muscle and kidney.

Isoforms (3)

UniProt ID	Names	Canonical?
Q06190-1	PR130, 130 kDa	yes
Q06190-2	PR72, 72 kDa
Q06190-3	3

RefSeq proteins (3): NP_001177376, NP_002709, NP_871626 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002048	EF_hand_dom	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR018247	EF_Hand_1_Ca_BS	Binding_site
IPR041534	EF-hand_13	Domain
IPR048855	P2R3A_B_D_EF-hand	Domain

Pfam: PF13499, PF17958, PF21161

UniProt features (47 total): helix 18, sequence variant 8, strand 4, turn 4, binding site 4, splice variant 3, domain 2, region of interest 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
4I5J	X-RAY DIFFRACTION	2.09
4I5K	X-RAY DIFFRACTION	2.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q06190-F1	59.09	0.30

Functional residue map

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

Ligand- & substrate-binding residues (4): 985; 987; 989; 996

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 280 (showing top): GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GCANCTGNY_MYOD_Q6, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_GROWTH, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEUROGENESIS, RACCACAR_AML_Q6, TGACCTY_ERR1_Q2, MEF2_02, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, AAAYRNCTG_UNKNOWN

GO Biological Process (10): eye photoreceptor cell differentiation (GO:0001754), somitogenesis (GO:0001756), protein dephosphorylation (GO:0006470), somatic muscle development (GO:0007525), positive regulation of protein catabolic process (GO:0045732), regulation of canonical Wnt signaling pathway (GO:0060828), somite development (GO:0061053), negative regulation of canonical Wnt signaling pathway (GO:0090090), regulation of cell migration involved in somitogenic axis elongation (GO:0090249), positive regulation of canonical Wnt signaling pathway (GO:0090263)

GO Molecular Function (5): calcium ion binding (GO:0005509), protein phosphatase regulator activity (GO:0019888), protein-macromolecule adaptor activity (GO:0030674), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (1): protein phosphatase type 2A complex (GO:0000159)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
canonical Wnt signaling pathway	3
regulation of canonical Wnt signaling pathway	2
photoreceptor cell differentiation	1
eye morphogenesis	1
anterior/posterior pattern specification	1
segmentation	1
chordate embryonic development	1
anatomical structure formation involved in morphogenesis	1
somite development	1
dephosphorylation	1
protein modification process	1
muscle structure development	1
positive regulation of catabolic process	1
protein catabolic process	1
regulation of protein catabolic process	1
positive regulation of protein metabolic process	1
regulation of Wnt signaling pathway	1
embryo development	1
epithelium development	1
negative regulation of Wnt signaling pathway	1
regulation of cell migration	1
cell migration involved in somitogenic axis elongation	1
positive regulation of Wnt signaling pathway	1
metal ion binding	1
phosphoprotein phosphatase activity	1
phosphatase regulator activity	1
protein phosphatase binding	1
protein binding	1
molecular adaptor activity	1
binding	1
cation binding	1
protein serine/threonine phosphatase complex	1

Protein interactions and networks

STRING

696 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PPP2R3A	PPP2CA	P05323	972
PPP2R3A	PPP2R1A	P30153	875
PPP2R3A	PPP2R5C	Q13362	848
PPP2R3A	PPP2R2A	P50409	833
PPP2R3A	PPP2R5B	Q15173	805
PPP2R3A	CDC6	Q99741	793
PPP2R3A	MINK1	Q8N4C8	769
PPP2R3A	PPP2R1B	P30154	758
PPP2R3A	PPP2R5A	Q15172	754
PPP2R3A	PPP2R2B	Q00005	741
PPP2R3A	PPP2R5D	Q14738	733
PPP2R3A	PPP2R2D	Q66LE6	732
PPP2R3A	STRN	O43815	713
PPP2R3A	PPP2R5E	Q16537	669
PPP2R3A	PPP1R9B	Q96SB3	661

IntAct

39 interactions, top by confidence:

A	B	Type	Score
PPP2R1A	PPP2CA	psi-mi:“MI:0915”(physical association)	0.990
PPP2R1A	PPP2CA	psi-mi:“MI:0407”(direct interaction)	0.990
PPP2R3A	PPP2R1A	psi-mi:“MI:0914”(association)	0.920
PPP2R1B	PPP2CA	psi-mi:“MI:0915”(physical association)	0.920
PPP2R1A	STRN	psi-mi:“MI:0914”(association)	0.880
PPP2R1A	STRN	psi-mi:“MI:2364”(proximity)	0.880
NHERF2	PODXL	psi-mi:“MI:0914”(association)	0.770
PPP2R1A	PPFIA3	psi-mi:“MI:0914”(association)	0.670
PPP2R3A	WTIP	psi-mi:“MI:0914”(association)	0.640
ZNF414	AHCYL1	psi-mi:“MI:0914”(association)	0.640
INAVA	CYTH3	psi-mi:“MI:0914”(association)	0.640
PPP2R1A	EIF4A1	psi-mi:“MI:0914”(association)	0.530
ZFC3H1	HNRNPCL1	psi-mi:“MI:0914”(association)	0.530
PPP2R1A	ENSA	psi-mi:“MI:0914”(association)	0.530
PPP2R3A	PPP5C	psi-mi:“MI:0915”(physical association)	0.400
Ppp2r1a	CCHCR1	psi-mi:“MI:0914”(association)	0.350
PPP2R1A	INTS2	psi-mi:“MI:0914”(association)	0.350
ORF21	USP9Y	psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350
ZNF785	CASK	psi-mi:“MI:0914”(association)	0.350
ZFC3H1	ANKHD1	psi-mi:“MI:0914”(association)	0.350
SFRP4	ANKRD17	psi-mi:“MI:0914”(association)	0.350
CDK17	DHPS	psi-mi:“MI:0914”(association)	0.350
SLX4	MYO1C	psi-mi:“MI:0914”(association)	0.350
LIN28A	MEX3A	psi-mi:“MI:0914”(association)	0.350
LIN28A	AGPS	psi-mi:“MI:0914”(association)	0.350
PPP2CA	SUPT5H	psi-mi:“MI:0914”(association)	0.350

BioGRID (76): PPP2R3A (Affinity Capture-MS), PPP2R3A (Affinity Capture-MS), PPP2R3A (Protein-peptide), PPP2R3A (Affinity Capture-MS), PPP2R3A (Affinity Capture-MS), PPP2R3A (Affinity Capture-MS), PPP2R3A (Affinity Capture-MS), PPP2R3A (Affinity Capture-MS), PPP2R3A (Affinity Capture-MS), PPP2R3A (Proximity Label-MS), LPP (Affinity Capture-MS), LIMD1 (Affinity Capture-MS), PPP2R3A (Affinity Capture-MS), PPP2R3A (Affinity Capture-MS), PPP2R3A (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4I9Y1, A0A0R4IBK5, A2ARZ3, A5WUT8, A6NKT7, A7S7F2, E9Q3L2, E9Q555, F1QB81, F5H4B4, H2QII6, O08662, O14715, O15050, O43310, P0DJD0, P0DJD1, P13864, P42356, P49792, Q06190, Q0V9S3, Q0VF22, Q16533, Q1LVQ2, Q24K09, Q2T9I9, Q4R6W9, Q4V847, Q5U228, Q63HN8, Q65Z40, Q6NU22, Q6NU51, Q7TPV2, Q7Z3J3, Q80TA9, Q811D2, Q86Y13, Q921I6

Diamond homologs: Q06190, Q5QIT3, Q84JI6, Q8VZQ4, Q9SLI8, Q9XGR4, Q9Y5P8, Q9Z176

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	157
Likely benign	21
Benign	23

Top pathogenic / likely-pathogenic (0)

SpliceAI

2236 predictions. Top by Δscore:

Variant	Effect	Δscore
3:135965847:GAGG:G	donor_loss	1.0000
3:135965848:AGGTA:A	donor_loss	1.0000
3:136026827:TTTA:T	acceptor_loss	1.0000
3:136026828:TTA:T	acceptor_loss	1.0000
3:136026830:A:AG	acceptor_gain	1.0000
3:136026831:G:GT	acceptor_gain	1.0000
3:136026831:GA:G	acceptor_gain	1.0000
3:136026831:GATT:G	acceptor_gain	1.0000
3:136026831:GATTC:G	acceptor_gain	1.0000
3:136027097:AGGT:A	donor_loss	1.0000
3:136027098:GGTA:G	donor_loss	1.0000
3:136027099:GTA:G	donor_loss	1.0000
3:136027100:T:A	donor_loss	1.0000
3:136040959:GAAA:G	donor_gain	1.0000
3:136040963:G:GG	donor_gain	1.0000
3:136049256:TA:T	acceptor_loss	1.0000
3:136049257:A:AG	acceptor_gain	1.0000
3:136049257:A:AT	acceptor_loss	1.0000
3:136049258:G:GG	acceptor_gain	1.0000
3:136049357:TTCAG:T	donor_loss	1.0000
3:136049358:TCAG:T	donor_loss	1.0000
3:136049359:CAGG:C	donor_loss	1.0000
3:136049360:AGGT:A	donor_loss	1.0000
3:136049361:GGTA:G	donor_loss	1.0000
3:136049362:G:GA	donor_loss	1.0000
3:136049363:T:A	donor_loss	1.0000
3:136070473:TTCAG:T	acceptor_loss	1.0000
3:136070474:TCAG:T	acceptor_loss	1.0000
3:136070475:CAGGA:C	acceptor_loss	1.0000
3:136070476:A:AG	acceptor_gain	1.0000

AlphaMissense

7677 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:136070503:T:C	L832P	1.000
3:136070512:T:C	L835P	1.000
3:136070529:T:C	F841L	1.000
3:136070531:C:A	F841L	1.000
3:136070531:C:G	F841L	1.000
3:136106249:T:A	W1086R	1.000
3:136106249:T:C	W1086R	1.000
3:136003303:C:A	A602D	0.999
3:136070503:T:A	L832H	0.999
3:136070508:T:C	F834L	0.999
3:136070510:C:A	F834L	0.999
3:136070510:C:G	F834L	0.999
3:136070512:T:A	L835Q	0.999
3:136070530:T:C	F841S	0.999
3:136070530:T:G	F841C	0.999
3:136078378:A:C	R852S	0.999
3:136078378:A:T	R852S	0.999
3:136082331:T:C	F900L	0.999
3:136082333:C:A	F900L	0.999
3:136082333:C:G	F900L	0.999
3:136082338:T:A	V902D	0.999
3:136082352:T:C	F907L	0.999
3:136082353:T:C	F907S	0.999
3:136082354:C:A	F907L	0.999
3:136082354:C:G	F907L	0.999
3:136082362:T:C	L910P	0.999
3:136090625:T:A	V962D	0.999
3:136102017:T:A	W980R	0.999
3:136102017:T:C	W980R	0.999
3:136102069:T:C	L997P	0.999

dbSNP variants (sampled 300 via entrez): RS1000010131 (3:136144098 G>A), RS1000022693 (3:135973966 T>C), RS1000060470 (3:136104003 A>T), RS1000080129 (3:135977174 G>T), RS1000083902 (3:136062368 A>C), RS1000094405 (3:136017325 G>A), RS1000095100 (3:136059425 T>C), RS1000106901 (3:136066989 T>C), RS1000145911 (3:136124779 A>G), RS1000170779 (3:136097912 C>G,T), RS1000183605 (3:136076891 G>A), RS1000197983 (3:136042576 A>G,T), RS1000198777 (3:136083457 T>C), RS1000200442 (3:136007472 C>A), RS1000220235 (3:136138825 C>T)

Disease associations

OMIM: gene MIM:604944 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

33 associations (top):

Study	Trait	p-value
GCST001365_4	Anticoagulant levels	8.000000e-06
GCST002539_50	Schizophrenia	7.000000e-11
GCST003194_16	Fibrinogen levels	2.000000e-27
GCST004063_4	Waist circumference adjusted for body mass index	5.000000e-08
GCST004063_66	Waist circumference adjusted for body mass index	9.000000e-09
GCST004121_25	Fibrinogen levels	3.000000e-21
GCST004521_157	Autism spectrum disorder or schizophrenia	3.000000e-08
GCST004746_26	Small cell lung carcinoma	2.000000e-06
GCST005580_285	Intraocular pressure	1.000000e-09
GCST006414_81	Atrial fibrillation	9.000000e-09
GCST006803_84	Schizophrenia	4.000000e-12
GCST006946_27	Worry too long after an embarrassing experience	5.000000e-11
GCST006948_23	Feeling nervous	5.000000e-09
GCST006950_57	Feeling worry	2.000000e-09
GCST007709_17	General factor of neuroticism	2.000000e-08
GCST008830_11	Neurofibrillary tangles	9.000000e-06
GCST010658_5	High density lipoprotein cholesterol levels	1.000000e-14
GCST010659_9	Waist circumference	1.000000e-10
GCST010660_13	Triglyceride levels	2.000000e-15
GCST010662_3	Systolic blood pressure	8.000000e-07
GCST010796_3508	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_3509	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_3510	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-09
GCST010796_3511	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08
GCST010796_3512	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_3513	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-08
GCST010796_3514	Electrocardiogram morphology (amplitude at temporal datapoints)	9.000000e-09
GCST010796_3515	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_3516	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-09
GCST011365_66	Myocardial infarction	2.000000e-10

EFO canonical traits (13, from GWAS)

EFO ID	Trait name
EFO:0004637	protein S measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0004695	intraocular pressure measurement
EFO:0009589	worry measurement
EFO:0009597	feeling nervous measurement
EFO:0007660	neuroticism measurement
EFO:0006797	neurofibrillary tangles measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004530	triglyceride measurement
EFO:0006335	systolic blood pressure
EFO:0004327	electrocardiography
EFO:0007990	neutrophil percentage of leukocytes
EFO:0004532	serum gamma-glutamyl transferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	3
Air Pollutants	decreases expression, increases abundance	2
Arsenic	affects cotreatment, increases abundance, increases expression, affects methylation	2
Valproic Acid	decreases expression, affects expression	2
Particulate Matter	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
potassium perchlorate	decreases expression	1
arsenite	decreases reaction, affects binding	1
perfluorooctanoic acid	increases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
epigallocatechin gallate	increases expression, affects cotreatment, decreases expression	1
CGP 52608	affects binding, increases reaction	1
perfluorohexanesulfonic acid	increases expression	1
Sunitinib	decreases expression	1
Acetaminophen	affects response to substance	1
Benzo(a)pyrene	increases methylation	1
Calcitriol	increases expression	1
Chelating Agents	increases expression, affects binding	1
Coal	decreases expression, increases abundance	1
Copper	affects binding, increases expression	1
Coumestrol	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Ketoconazole	decreases expression	1
Manganese	increases expression, affects cotreatment, increases abundance	1
Methapyrilene	increases methylation	1
Nicotine	increases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D7Y6	Ubigene A-549 PPP2R3A KO	Cancer cell line	Male
CVCL_TG01	HAP1 PPP2R3A (-) 1	Cancer cell line	Male
CVCL_TG02	HAP1 PPP2R3A (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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