PPP1R3B

Summary

PPP1R3B (protein phosphatase 1 regulatory subunit 3B, HGNC:14942) is a protein-coding gene on chromosome 8p23.1, encoding Protein phosphatase 1 regulatory subunit 3B (Q86XI6). Acts as a glycogen-targeting subunit for phosphatase PP1.

This gene encodes the catalytic subunit of the serine/theonine phosphatase, protein phosphatase-1. The encoded protein is expressed in liver and skeletal muscle tissue and may be involved in regulating glycogen synthesis in these tissues. This gene may be a involved in type 2 diabetes and maturity-onset diabetes of the young. Alternate splicing results in multiple transcript variants that encode the same protein.

Source: NCBI Gene 79660 — RefSeq curated summary.

At a glance

• GWAS associations: 102
• Clinical variants (ClinVar): 64 total
• MANE Select transcript: NM_024607

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14942
Approved symbol	PPP1R3B
Name	protein phosphatase 1 regulatory subunit 3B
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Aliases	GL, FLJ14005, PPP1R4
Ensembl gene	ENSG00000173281
Ensembl biotype	protein_coding
OMIM	610541
Entrez	79660

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000310455, ENST00000519699

RefSeq mRNA: 2 — MANE Select: NM_024607 NM_001201329, NM_024607

CCDS: CCDS5973

Canonical transcript exons

ENST00000310455 — 2 exons

Exon	Start	End
ENSE00001184334	9150563	9150658
ENSE00001184339	9136255	9141668

Expression profiles

Bgee: expression breadth ubiquitous, 141 present calls, max score 94.94.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.3499 / max 570.9910, expressed in 1741 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
91758	7.7612	1611
91759	2.4287	1115
91756	1.9500	885
91760	0.6900	387
91761	0.6710	205
91757	0.6142	330
91762	0.2347	94

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skeletal muscle tissue	UBERON:0001134	94.94	gold quality
liver	UBERON:0002107	93.34	gold quality
hindlimb stylopod muscle	UBERON:0004252	92.96	gold quality
muscle organ	UBERON:0001630	92.90	gold quality
skeletal muscle organ	UBERON:0014892	92.90	gold quality
muscle of leg	UBERON:0001383	92.82	gold quality
gastrocnemius	UBERON:0001388	92.62	gold quality
right lobe of liver	UBERON:0001114	92.59	gold quality
popliteal artery	UBERON:0002250	91.97	gold quality
tibial artery	UBERON:0007610	91.94	gold quality
muscle tissue	UBERON:0002385	91.79	gold quality
blood	UBERON:0000178	91.43	gold quality
descending thoracic aorta	UBERON:0002345	89.88	gold quality
right coronary artery	UBERON:0001625	89.76	gold quality
thoracic aorta	UBERON:0001515	89.54	gold quality
ascending aorta	UBERON:0001496	89.43	gold quality
urinary bladder	UBERON:0001255	89.22	gold quality
heart left ventricle	UBERON:0002084	88.99	gold quality
heart	UBERON:0000948	88.61	gold quality
right atrium auricular region	UBERON:0006631	88.41	gold quality
subcutaneous adipose tissue	UBERON:0002190	86.64	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.62	gold quality
lower esophagus mucosa	UBERON:0035834	86.44	gold quality
myometrium	UBERON:0001296	86.41	gold quality
smooth muscle tissue	UBERON:0001135	86.34	gold quality
left coronary artery	UBERON:0001626	86.30	gold quality
body of uterus	UBERON:0009853	85.01	gold quality
uterus	UBERON:0000995	84.88	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	84.86	gold quality
lower esophagus	UBERON:0013473	84.71	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.82
E-CURD-135	no	715.10

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

198 targeting PPP1R3B, 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-3163	100.00	77.23	8605
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548C-3P	99.99	74.01	7587
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-4715-3P	99.98	66.03	670
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-3658	99.96	73.87	4379
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-4267	99.96	66.53	2368
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345

Literature-anchored findings (GeneRIF, showing 11)

• Results suggest that in cultured human myotubes, glycogen-targeting PP1 (protein phosphatase 1) subunit G(L) (coded for by the PPP1R3B gene) is expressed as in muscle tissue and is unresponsive to glucose or insulin, as are G(M) and PTG genes. (PMID:17555403)
• Data indicate that genetic polymorphisms of the PPP1R3B gene may contribute to variations in plasma lipids and C-reactive protein (CRP) levels among Chinese Han individuals. (PMID:23343124)
• Some, but not all, associations between variants in NCAN, lysophospholipase-like 1, GCKR, and PPP1R3B with hepatic steatosis (with and without increased ALT level) were significant within subpopulations. (PMID:23416328)
• A novel role for PTG in protecting hepatocellular carcinoma cells from metabolic stress, in part by regulating oxidative stress and autophagy. (PMID:26182369)
• rs9987289 A-allele was associated with plasma lactate in European-Americans but not in African-Americans. (PMID:26433129)
• Among Mexicans, the PNPLA3 (rs738409), LYPLAL1 (rs12137855), PPP1R3B (rs4240624), and GCKR (rs780094) polymorphisms may be associated with a greater risk of chronic liver disease among overweight adults. (PMID:27752939)
• These observations are consistent with the notion that the minor allele of rs4841132 promotes a mild form of hepatic glycogenosis that is associated with hepatic injury (PMID:29266543)
• Study in Danish cohort of maturity onset diabetes of the young (MODY), newly diagnosed patients with type 2 diabetes (T2D) and population-based control individuals revealed that rare missense PPP1R3B variants may predispose to T2D. (PMID:30629617)
• Genetic Variation at PPP1R3B Increases Hepatic CT Attenuation and Interacts With Prandial Status on Plasma Glucose. (PMID:32219298)
• A Noncoding Variant Near PPP1R3B Promotes Liver Glycogen Storage and MetS, but Protects Against Myocardial Infarction. (PMID:33231259)
• Protein Phosphatase 1 Regulatory Subunit 3B Genotype at rs4240624 Has a Major Effect on Gallbladder Bile Composition. (PMID:33553972)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ppp1r3b	ENSDARG00000044691
mus_musculus	Ppp1r3b	ENSMUSG00000046794
rattus_norvegicus	Ppp1r3b	ENSRNOG00000011474
drosophila_melanogaster	Gbs-70E	FBGN0036428
caenorhabditis_elegans		WBGENE00019211

Paralogs (6): PPP1R3F (ENSG00000049769), PPP1R3C (ENSG00000119938), PPP1R3D (ENSG00000132825), PPP1R3A (ENSG00000154415), PPP1R3G (ENSG00000219607), PPP1R3E (ENSG00000235194)

Protein

Protein identifiers

Protein phosphatase 1 regulatory subunit 3B — Q86XI6 (reviewed: Q86XI6)

Alternative names: Hepatic glycogen-targeting protein phosphatase 1 regulatory subunit GL, Protein phosphatase 1 regulatory subunit 4, Protein phosphatase 1 subunit GL

All UniProt accessions (1): Q86XI6

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a glycogen-targeting subunit for phosphatase PP1. Facilitates interaction of the PP1 with enzymes of the glycogen metabolism and regulates its activity. Suppresses the rate at which PP1 dephosphorylates (inactivates) glycogen phosphorylase and enhances the rate at which it activates glycogen synthase and therefore limits glycogen breakdown. Its activity is inhibited by PYGL, resulting in inhibition of the glycogen synthase and glycogen phosphorylase phosphatase activities of PP1. Dramatically increases basal and insulin-stimulated glycogen synthesis upon overexpression in hepatocytes.

Subunit / interactions. Interacts with glycogen, PPP1CC catalytic subunit of PP1 and PYGL. Associates with glycogen particles. Forms complexes with debranching enzyme, glycogen phosphorylase, glycogen synthase and phosphorylase kinase which is necessary for its regulation of PP1 activity.

Tissue specificity. Highly expressed in the liver and, at lower levels, in skeletal muscle, including in vastus lateralis, gastrocnemius and soleus (at protein level). Highest mRNA levels are observed in skeletal muscle, and only moderate levels in liver and heart. Weak expression in placenta and lung.

Domain organisation. The N-terminal region is required for binding to PP1, the central region is required for binding to glycogen and the C-terminal region is required for binding to PYGL.

RefSeq proteins (2): NP_001188258, NP_078883* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005036	CBM21_dom	Domain
IPR017434	Pase-1_reg-su_3B/C/D_met	Family
IPR030682	PP1_3B	Family
IPR038175	CBM21_dom_sf	Homologous_superfamily
IPR050782	PP1_regulatory_subunit_3	Family

Pfam: PF03370

UniProt features (23 total): strand 13, helix 2, turn 2, chain 1, domain 1, short sequence motif 1, modified residue 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
5ZT0	X-RAY DIFFRACTION	3.32
2EEF	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86XI6-F1	71.22	0.38

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): 261

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 215 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GOBP_POLYSACCHARIDE_BIOSYNTHETIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_POLYSACCHARIDE_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_GLYCOGEN_METABOLIC_PROCESS, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS, CCTGTGA_MIR513, GROSS_HYPOXIA_VIA_ELK3_AND_HIF1A_UP, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, GOBP_REGULATION_OF_GLUCOSE_METABOLIC_PROCESS, GOBP_REGULATION_OF_GLYCOGEN_METABOLIC_PROCESS

GO Biological Process (5): glycogen metabolic process (GO:0005977), regulation of glycogen biosynthetic process (GO:0005979), positive regulation of glycogen biosynthetic process (GO:0045725), negative regulation of glycogen catabolic process (GO:0045818), regulation of glycogen catabolic process (GO:0005981)

GO Molecular Function (7): protein phosphatase 1 binding (GO:0008157), protein phosphatase regulator activity (GO:0019888), [phosphorylase] phosphatase activity (GO:0050196), glycogen binding (GO:2001069), phosphoprotein phosphatase activity (GO:0004721), protein binding (GO:0005515), enzyme binding (GO:0019899)

GO Cellular Component (2): protein phosphatase type 1 complex (GO:0000164), glycogen granule (GO:0042587)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
glycogen biosynthetic process	2
regulation of glycogen metabolic process	2
glycogen catabolic process	2
protein phosphatase binding	2
phosphoprotein phosphatase activity	2
cytoplasm	2
energy reserve metabolic process	1
glucan metabolic process	1
regulation of glucan biosynthetic process	1
regulation of glycogen biosynthetic process	1
positive regulation of macromolecule biosynthetic process	1
positive regulation of glycogen metabolic process	1
regulation of glycogen catabolic process	1
negative regulation of catabolic process	1
negative regulation of glycogen metabolic process	1
regulation of carbohydrate catabolic process	1
phosphatase regulator activity	1
polysaccharide binding	1
phosphatase activity	1
catalytic activity, acting on a protein	1
binding	1
protein binding	1
protein serine/threonine phosphatase complex	1
cellular anatomical structure	1

Protein interactions and networks

STRING

752 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PPP1R3B	MFHAS1	Q9Y4C4	924
PPP1R3B	CLDN23	Q96B33	891
PPP1R3B	PPP1R8	Q12972	863
PPP1R3B	LYPLAL1	Q5VWZ2	790
PPP1R3B	PPP1CC	P36873	745
PPP1R3B	PNPLA3	Q9NST1	714
PPP1R3B	GYS2	P54840	700
PPP1R3B	TM6SF2	Q9BZW4	695
PPP1R3B	PYGL	P06737	682
PPP1R3B	NCAN	O14594	662
PPP1R3B	FAM167A	Q96KS9	662
PPP1R3B	HSD17B13	Q7Z5P4	614
PPP1R3B	GCKR	Q14397	597
PPP1R3B	MBOAT7	Q96N66	582
PPP1R3B	GYS1	P13807	566

IntAct

25 interactions, top by confidence:

A	B	Type	Score
STBD1	GABARAP	psi-mi:“MI:0914”(association)	0.760
PPP1CA	PPP1R3B	psi-mi:“MI:0915”(physical association)	0.740
PPP1R3B	PPP1CA	psi-mi:“MI:0915”(physical association)	0.740
PYGB	PPP1R3B	psi-mi:“MI:0915”(physical association)	0.670
PPP1CC	PPP1R3B	psi-mi:“MI:0915”(physical association)	0.670
PPP1R3B	YY1	psi-mi:“MI:0914”(association)	0.530
PYGB	STBD1	psi-mi:“MI:0914”(association)	0.530
IFNAR2	PPP1R3B	psi-mi:“MI:0915”(physical association)	0.370
NUP153	POM121C	psi-mi:“MI:0914”(association)	0.350
DHX15	BBX	psi-mi:“MI:0914”(association)	0.350
GPRASP2	GYG2	psi-mi:“MI:0914”(association)	0.350
PYGB	GYG2	psi-mi:“MI:0914”(association)	0.350
PPP1R3B	PPP1R3D	psi-mi:“MI:0914”(association)	0.350
PPP1R3B	NIPSNAP2	psi-mi:“MI:0914”(association)	0.350
PPP1CA	PPP1R3B	psi-mi:“MI:0915”(physical association)	0.000
PPP1R3B	PLEC	psi-mi:“MI:0915”(physical association)	0.000
PPP1R3B	PPP1CB	psi-mi:“MI:0915”(physical association)	0.000
PPP1R3B	PYGM	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (28): PPP1CC (Affinity Capture-MS), PPP1CA (Affinity Capture-MS), GBAS (Affinity Capture-MS), GYG1 (Affinity Capture-MS), GYS2 (Affinity Capture-MS), GYS1 (Affinity Capture-MS), YY1 (Affinity Capture-MS), PPP1R3B (Affinity Capture-MS), PPP1CC (Affinity Capture-MS), YY1 (Affinity Capture-MS), PPP1R3B (Two-hybrid), PPP1R3B (Two-hybrid), PPP1CC (Two-hybrid), PPP1CB (Two-hybrid), PLCE1 (Two-hybrid)

ESM2 similar proteins: A6QNP3, F1QJF4, F6Y9J3, O60308, P97874, Q02395, Q08D35, Q0VCR4, Q14B46, Q28E28, Q5BL87, Q5FWH3, Q5JTW2, Q5QNQ6, Q5R7T9, Q5U2R5, Q5XGX5, Q5XIZ9, Q60695, Q60949, Q6DDQ5, Q6GL23, Q6GL65, Q6GQ68, Q6IN01, Q6P950, Q7TMB3, Q803M0, Q80T23, Q80U87, Q812E4, Q86XI6, Q8BXR9, Q8C5W4, Q8C767, Q8C7M3, Q8GT06, Q8TDW5, Q8TE85, Q8VHQ7

Diamond homologs: A6QNP3, O95685, P40036, P40187, Q00756, Q0VCR4, Q16821, Q28E28, Q5BL87, Q5U2R5, Q6DDQ5, Q6GL23, Q6GQ68, Q6IN01, Q6P950, Q7TMB3, Q803M0, Q86XI6, Q8C767, Q99MR9, Q9UQK1, Q9VVY3, T1SFR8, B7ZBB8, P0C7L8, Q8BRJ4, Q9CW07, Q9H7J1, Q6ZSY5, Q9JIG4, P28006, Q06216, P07683

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
NHLRC1	“down-regulates quantity by destabilization”	PPP1R3B	ubiquitination
PPP1R3B	up-regulates	GYS2	binding
PPP1R3B	up-regulates	GYS1	binding
PPP1R3B	up-regulates	PP1	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 18 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.

GO biological processes:

GO term	Partners	Fold	FDR
glycogen metabolic process	5	146.3×	2e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	49
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

300 predictions. Top by Δscore:

Variant	Effect	Δscore
8:9141676:CG:C	acceptor_gain	1.0000
8:9150559:CCAC:C	donor_loss	1.0000
8:9150562:C:CT	donor_loss	1.0000
8:9141665:CAGG:C	acceptor_gain	0.9900
8:9141676:C:T	acceptor_gain	0.9900
8:9141677:G:C	acceptor_gain	0.9900
8:9142796:AACAT:A	donor_gain	0.9900
8:9142797:A:C	donor_gain	0.9900
8:9150639:C:CT	donor_gain	0.9900
8:9150640:T:TT	donor_gain	0.9900
8:9141669:C:CC	acceptor_gain	0.9800
8:9141675:CCG:C	acceptor_gain	0.9800
8:9141677:G:GC	acceptor_gain	0.9800
8:9141677:G:T	acceptor_gain	0.9800
8:9150559:CCACC:C	donor_gain	0.9800
8:9140971:G:A	donor_gain	0.9700
8:9141666:AGGCT:A	acceptor_gain	0.9700
8:9141667:GGCTA:G	acceptor_gain	0.9700
8:9141668:GCT:G	acceptor_gain	0.9700
8:9141669:CTA:C	acceptor_gain	0.9700
8:9142800:T:TA	donor_gain	0.9700
8:9141664:ACAGG:A	acceptor_gain	0.9600
8:9141665:CAGGC:C	acceptor_gain	0.9600
8:9141666:AGG:A	acceptor_gain	0.9600
8:9141668:GC:G	acceptor_loss	0.9600
8:9141669:C:G	acceptor_loss	0.9600
8:9141670:T:G	acceptor_gain	0.9600
8:9142795:TA:T	donor_gain	0.9600
8:9142796:AA:A	donor_gain	0.9600
8:9150561:A:AC	donor_gain	0.9600

AlphaMissense

1904 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:9141457:G:C	F65L	0.999
8:9141457:G:T	F65L	0.999
8:9141459:A:G	F65L	0.999
8:9141076:G:C	F192L	0.998
8:9141076:G:T	F192L	0.998
8:9141078:A:G	F192L	0.998
8:9141121:A:C	C177W	0.997
8:9141147:A:G	W169R	0.997
8:9141147:A:T	W169R	0.997
8:9141254:A:T	V133D	0.997
8:9141458:A:C	F65C	0.996
8:9141458:A:G	F65S	0.996
8:9141145:C:A	W169C	0.995
8:9141145:C:G	W169C	0.995
8:9141206:A:T	V149E	0.995
8:9141310:A:C	F114L	0.995
8:9141310:A:T	F114L	0.995
8:9141312:A:G	F114L	0.995
8:9141023:A:G	F210S	0.994
8:9141070:G:C	F194L	0.994
8:9141070:G:T	F194L	0.994
8:9141072:A:G	F194L	0.994
8:9141123:A:G	C177R	0.994
8:9141200:A:T	V151D	0.994
8:9141212:C:T	G147D	0.994
8:9141240:A:G	C138R	0.994
8:9141122:C:T	C177Y	0.993
8:9141248:A:T	L135H	0.993
8:9141434:A:G	L73P	0.993
8:9141077:A:G	F192S	0.992

dbSNP variants (sampled 300 via entrez): RS1000042221 (8:9153091 G>A), RS1000071373 (8:9139052 G>C), RS1000116510 (8:9142507 CTTTT>C,CTTT,CTTTTT), RS1000218737 (8:9151160 C>A,T), RS1000238437 (8:9146743 TG>T), RS1000646315 (8:9152056 A>C,G,T), RS1000715961 (8:9151354 A>T), RS1000901170 (8:9143215 G>A,C), RS1000922715 (8:9139263 A>G), RS1000959067 (8:9150885 G>A), RS1001005012 (8:9147630 G>A), RS1001037665 (8:9147952 C>A,T), RS1001271246 (8:9143077 C>A), RS1001630842 (8:9136738 T>G), RS1001720963 (8:9145627 A>G)

Disease associations

OMIM: gene MIM:610541 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

102 associations (top):

Study	Trait	p-value
GCST000755_33	HDL cholesterol	6.000000e-25
GCST000759_22	LDL cholesterol	7.000000e-15
GCST000760_24	Cholesterol, total	9.000000e-24
GCST000807_9	LDL cholesterol	7.000000e-12
GCST000965_18	C-reactive protein levels	3.000000e-13
GCST000974_12	HDL cholesterol	6.000000e-09
GCST001276_2	Liver enzyme levels (alkaline phosphatase)	2.000000e-10
GCST001526_8	Fasting blood insulin (BMI interaction)	2.000000e-10
GCST001527_7	Fasting blood glucose (BMI interaction)	8.000000e-09
GCST001529_7	Alzheimer’s disease	3.000000e-07
GCST001639_23	Metabolite levels	2.000000e-09
GCST001712_37	Myopia (pathological)	6.000000e-07
GCST001904_3	HDL cholesterol	1.000000e-06
GCST002043_3	HDL cholesterol	7.000000e-09
GCST002110_7	Glycemic traits (pregnancy)	5.000000e-15
GCST002110_8	Glycemic traits (pregnancy)	3.000000e-13
GCST002221_32	Cholesterol, total	2.000000e-36
GCST002222_46	LDL cholesterol	9.000000e-24
GCST002223_71	HDL cholesterol	2.000000e-41
GCST002481_5	Acne (severe)	9.000000e-07
GCST002896_44	Cholesterol, total	1.000000e-21
GCST002898_18	LDL cholesterol	3.000000e-16
GCST002899_25	HDL cholesterol	4.000000e-20
GCST002931_8	Aluminium levels	3.000000e-07
GCST003147_1	Plasma lactate levels	2.000000e-09
GCST003147_3	Plasma lactate levels	2.000000e-07
GCST003678_20	C-reactive protein levels or total cholesterol levels (pleiotropy)	1.000000e-31
GCST003679_9	C-reactive protein levels or LDL-cholesterol levels (pleiotropy)	2.000000e-24
GCST003680_3	C-reactive protein levels or HDL-cholesterol levels (pleiotropy)	1.000000e-39
GCST003681_13	C-reactive protein levels or triglyceride levels (pleiotropy)	3.000000e-14

EFO canonical traits (35, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004574	total cholesterol measurement
EFO:0004458	C-reactive protein measurement
EFO:0004533	alkaline phosphatase measurement
EFO:0004340	body mass index
EFO:0004723	coronary artery calcification
EFO:0004207	pathological myopia
EFO:0005187	C-peptide measurement
EFO:0007745	lactate measurement
EFO:0004530	triglyceride measurement
EFO:0007905	joint hypermobility measurement
EFO:0004514	bone quantitative ultrasound measurement
EFO:0007660	neuroticism measurement
EFO:0004329	alcohol drinking
EFO:0006336	diastolic blood pressure
EFO:0006527	smoking status measurement
EFO:0006335	systolic blood pressure
EFO:0004341	body fat distribution
EFO:0008579	risk-taking behaviour
EFO:0009718	peak expiratory flow
EFO:0004713	FEV/FVC ratio
EFO:0004314	forced expiratory volume
EFO:0009767	glycine measurement
EFO:0007645	longitudinal alcohol consumption measurement
EFO:0009458	alcohol use disorder measurement
EFO:0010363	lysophosphatidylcholine 20:4 measurement
EFO:0010370	lysophosphatidylethanolamine 20:4 measurement
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression, decreases expression, affects cotreatment	6
sodium arsenite	decreases expression, increases stability	4
Acetaminophen	decreases expression, increases expression	4
trichostatin A	affects cotreatment, increases expression	3
Benzo(a)pyrene	affects methylation, decreases expression, increases expression	3
Tetrachlorodibenzodioxin	affects expression, decreases expression	3
perfluorooctane sulfonic acid	decreases expression	2
entinostat	increases expression, affects cotreatment	2
belinostat	increases expression, affects cotreatment	2
Vorinostat	affects cotreatment, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Estradiol	affects cotreatment, increases expression, decreases expression	2
Tretinoin	increases expression	2
Cyclosporine	decreases expression	2
Aflatoxin B1	affects expression, decreases expression, decreases methylation	2
Cadmium Chloride	increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
afuresertib	increases expression	1
methylmercuric chloride	decreases expression	1
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
nickel chloride	increases expression	1
cupric oxide	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, increases expression	1
MRK 003	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TF80	HAP1 PPP1R3B (-) 1	Cancer cell line	Male
CVCL_TF81	HAP1 PPP1R3B (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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