PPP1R16B

Summary

PPP1R16B (protein phosphatase 1 regulatory subunit 16B, HGNC:15850) is a protein-coding gene on chromosome 20q11.23, encoding Protein phosphatase 1 regulatory inhibitor subunit 16B (Q96T49). Regulator of protein phosphatase 1 (PP1) that acts as a positive regulator of pulmonary endothelial cell (EC) barrier function.

The protein encoded by this gene is membrane-associated and contains five ankyrin repeats, a protein phosphatase-1-interacting domain, and a carboxy-terminal CAAX box domain. Synthesis of the encoded protein is inhibited by transforming growth factor beta-1. The protein may bind to the membrane through its CAAX box domain and may act as a signaling molecule through interaction with protein phosphatase-1. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein.

Source: NCBI Gene 26051 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 66 total
• MANE Select transcript: NM_015568

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15850
Approved symbol	PPP1R16B
Name	protein phosphatase 1 regulatory subunit 16B
Location	20q11.23
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0823, TIMAP, ANKRD4
Ensembl gene	ENSG00000101445
Ensembl biotype	protein_coding
OMIM	613275
Entrez	26051

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000299824, ENST00000373331, ENST00000463749, ENST00000468265, ENST00000969164, ENST00000969165, ENST00000969166

RefSeq mRNA: 2 — MANE Select: NM_015568 NM_001172735, NM_015568

CCDS: CCDS13309, CCDS54462

Canonical transcript exons

ENST00000299824 — 11 exons

Exon	Start	End
ENSE00000661983	38902668	38902792
ENSE00000661984	38905969	38906094
ENSE00000661985	38906979	38907054
ENSE00000661986	38907806	38907935
ENSE00000661987	38908028	38908193
ENSE00001105092	38918157	38923024
ENSE00001105105	38895565	38895710
ENSE00001159862	38835825	38836175
ENSE00001174415	38900581	38900684
ENSE00001196452	38805697	38805792
ENSE00003559634	38889595	38889665

Expression profiles

Bgee: expression breadth ubiquitous, 257 present calls, max score 97.48.

FANTOM5 (CAGE): breadth broad, TPM avg 16.6953 / max 508.3349, expressed in 722 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
184587	16.3113	718
184586	0.3840	83

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
CA1 field of hippocampus	UBERON:0003881	97.48	gold quality
lateral globus pallidus	UBERON:0002476	97.11	gold quality
orbitofrontal cortex	UBERON:0004167	96.39	gold quality
middle frontal gyrus	UBERON:0002702	96.37	gold quality
Brodmann (1909) area 46	UBERON:0006483	96.10	gold quality
parietal lobe	UBERON:0001872	95.82	gold quality
Brodmann (1909) area 10	UBERON:0013541	95.78	gold quality
nucleus accumbens	UBERON:0001882	95.76	gold quality
putamen	UBERON:0001874	95.74	gold quality
postcentral gyrus	UBERON:0002581	95.70	gold quality
occipital lobe	UBERON:0002021	95.63	gold quality
primary visual cortex	UBERON:0002436	95.53	gold quality
frontal pole	UBERON:0002795	95.52	gold quality
right frontal lobe	UBERON:0002810	95.45	gold quality
prefrontal cortex	UBERON:0000451	95.27	gold quality
inferior vagus X ganglion	UBERON:0005363	95.07	gold quality
frontal lobe	UBERON:0016525	95.03	gold quality
frontal cortex	UBERON:0001870	95.02	gold quality
caudate nucleus	UBERON:0001873	94.98	gold quality
superior frontal gyrus	UBERON:0002661	94.95	gold quality
entorhinal cortex	UBERON:0002728	94.69	gold quality
inferior olivary complex	UBERON:0002127	94.56	gold quality
cingulate cortex	UBERON:0003027	94.56	gold quality
anterior cingulate cortex	UBERON:0009835	94.53	gold quality
neocortex	UBERON:0001950	94.25	gold quality
telencephalon	UBERON:0001893	94.20	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	94.16	gold quality
Brodmann (1909) area 9	UBERON:0013540	94.00	gold quality
temporal lobe	UBERON:0001871	93.92	gold quality
corpus callosum	UBERON:0002336	93.85	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.15
E-MTAB-7606	no	633.95

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

233 targeting PPP1R16B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-12136	99.98	72.81	5713
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-8075	99.97	67.20	962

Literature-anchored findings (GeneRIF, showing 13)

• TIMAP, a novel CAAX box protein regulated by TGF-beta1 and expressed in endothelial cells. (PMID:12055102)
• involvement of TIMAP in PKA-mediated moesin dephosphorylation and the importance of this dephosphorylation in TIMAP-mediated endothelial cell barrier protection (PMID:18586956)
• Data suggest that double-thiophosphorylation of TIMAP has minor effect on its binding ability to PP1c, but considerably attenuates its inhibitory effect on the activity of PP1c. (PMID:21466834)
• These data confirmed the barrier-protective role of TIMAP (PMID:21907835)
• TIMAP promotes angiogenesis by suppressing PTEN-mediated Akt inhibition in human glomerular endothelial cells. (PMID:25007873)
• ROCK phosphorylated eEF1A1 is a novel substrate for TIMAP-PP1 underlining the complex regulatory role of TIMAP in the endothelium. (PMID:26497934)
• Results indicate that PKC-phosphorylated ECE-1 is a TIMAP-PP1c substrate and this phosphatase complex has an important role in endothelin-1 production of EC through the regulation of ECE-1 activity. (PMID:26806547)
• NF2 localizes in nucleus when Ser518 is not phosphorylated, while phosphorylated form is present in cytoplasm and plasma membrane. Data suggest that binding of NF2 to TIMAP and EBP50 is critical in nuclear localization of NF2. (NF2 = neurofibromin 2; TIMAP = TGF-beta-inhibited membrane-associated protein; EBP50 = Ezrin-Radixin-Mosein binding phosphoprotein 50) (PMID:27871951)
• phosphorylation of TIMAP on Ser331 by PKC represents a new mechanism of endothelial barrier regulation, through the inhibition of phospho-ERM dephosphorylation (PMID:27939168)
• TIMAP is the versatile protein phosphatase 1 regulator in endothelial cells. (Review) (PMID:29140585)
• The TIMAP inhibits myosin phosphatase activity in ECs by competing with MYPT1 for PP1cbeta and blocking the PP1cbeta active site. (PMID:31315927)
• The role of LR-TIMAP/PP1c complex in the occurrence and development of no-reflow. (PMID:33639401)
• TIMAP, a Regulatory Subunit of Protein Phosphatase 1, Inhibits In Vitro Neuronal Differentiation. (PMID:38139189)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ppp1r16b	ENSDARG00000079860
mus_musculus	Ppp1r16b	ENSMUSG00000037754
rattus_norvegicus	Ppp1r16b	ENSRNOG00000015614
drosophila_melanogaster	MYPT-75D	FBGN0036801
caenorhabditis_elegans	gfi-2	WBGENE00001582

Paralogs (1): PPP1R16A (ENSG00000160972)

Protein

Protein identifiers

Protein phosphatase 1 regulatory inhibitor subunit 16B — Q96T49 (reviewed: Q96T49)

Alternative names: Ankyrin repeat domain-containing protein 4, CAAX box protein TIMAP, TGF-beta-inhibited membrane-associated protein

All UniProt accessions (1): Q96T49

UniProt curated annotations — full annotation on UniProt →

Function. Regulator of protein phosphatase 1 (PP1) that acts as a positive regulator of pulmonary endothelial cell (EC) barrier function. Involved in the regulation of the PI3K/AKT signaling pathway, angiogenesis and endothelial cell proliferation. Regulates angiogenesis and endothelial cell proliferation through the control of ECE1 dephosphorylation, trafficking and activity. Protects the endothelial barrier from lipopolysaccharide (LPS)-induced vascular leakage. Involved in the regulation of endothelial cell filopodia extension. May be a downstream target for TGF-beta1 signaling cascade in endothelial cells. Involved in PKA-mediated moesin dephosphorylation which is important in EC barrier protection against thrombin stimulation. Promotes the interaction of PPP1CA with RPSA/LAMR1 and in turn facilitates the dephosphorylation of RPSA/LAMR1. Involved in the dephosphorylation of EEF1A1.

Subunit / interactions. Interacts with PPP1CA, PPP1CB and MSN. Interacts (via its fourth ankyrin repeat) with the mature dimeric form of RPSA/LAMR1. Interacts with EEF1A1. Interacts with PTEN. Interacts with ECE1.

Subcellular location. Cell membrane. Nucleus. Cell projection.

Post-translational modifications. Phosphorylated by PKA and, after PKA priming, by GSK3B. Phosphorylation by GSK3B reduces its association with PP1C and enhances PP1C activity. Dephosphorylation by its associated PP1C results in enhanced association with PP1C, but reduced PP1C activity.

Induction. Inhibited by TGFB1. Down-regulated by LPS.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96T49-1	1	yes
Q96T49-2	2

RefSeq proteins (2): NP_001166206, NP_056383* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR017417	Pase-1_reg_su_16AB	Family
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR051226	PP1_Regulatory_Subunit	Family

Pfam: PF12796

UniProt features (22 total): modified residue 6, repeat 5, compositionally biased region 2, lipid moiety-binding region 2, region of interest 2, chain 1, propeptide 1, splice variant 1, mutagenesis site 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96T49-F1	70.73	0.44

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 (8): 69, 333, 337, 350, 476, 564, 563, 564

Mutagenesis-validated functional residues (1):

Position	Phenotype
252	strongly decreased interaction with eef1a1.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 321 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GOBP_ENDOTHELIAL_CELL_DEVELOPMENT, RNGTGGGC_UNKNOWN, VERHAAK_AML_WITH_NPM1_MUTATED_DN, GOBP_EPITHELIUM_DEVELOPMENT, ACTACCT_MIR196A_MIR196B, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_EPITHELIAL_CELL_DEVELOPMENT, PEREZ_TP63_TARGETS, GCANCTGNY_MYOD_Q6, AREB6_03, MITSIADES_RESPONSE_TO_APLIDIN_DN, TGACCTY_ERR1_Q2, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, CAGCTG_AP4_Q5

GO Biological Process (6): positive regulation of endothelial cell proliferation (GO:0001938), regulation of filopodium assembly (GO:0051489), regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051896), establishment of endothelial barrier (GO:0061028), positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:1903589), regulation of sprouting angiogenesis (GO:1903670)

GO Molecular Function (4): enzyme inhibitor activity (GO:0004857), myosin phosphatase regulator activity (GO:0017020), protein phosphatase regulator activity (GO:0019888), protein binding (GO:0005515)

GO Cellular Component (7): nucleus (GO:0005634), cytoplasm (GO:0005737), plasma membrane (GO:0005886), nuclear speck (GO:0016607), cell projection (GO:0042995), perinuclear region of cytoplasm (GO:0048471), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
endothelial cell proliferation	1
regulation of endothelial cell proliferation	1
positive regulation of epithelial cell proliferation	1
filopodium assembly	1
regulation of plasma membrane bounded cell projection assembly	1
phosphatidylinositol 3-kinase/protein kinase B signal transduction	1
regulation of intracellular signal transduction	1
endothelial cell development	1
positive regulation of endothelial cell proliferation	1
blood vessel endothelial cell proliferation involved in sprouting angiogenesis	1
regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis	1
sprouting angiogenesis	1
regulation of angiogenesis	1
catalytic activity	1
enzyme regulator activity	1
molecular function inhibitor activity	1
myosin phosphatase activity	1
protein phosphatase regulator activity	1
phosphoprotein phosphatase activity	1
phosphatase regulator activity	1
protein phosphatase binding	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
membrane	1
cell periphery	1
nuclear ribonucleoprotein granule	1
cytoplasm	1

Protein interactions and networks

STRING

1612 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PPP1R16B	PPP1CB	P37140	854
PPP1R16B	RPSA	P08865	843
PPP1R16B	PPP1CC	P36873	694
PPP1R16B	MSN	P26038	615
PPP1R16B	SACK1D	Q9H4H8	513
PPP1R16B	KCTD9	Q7L273	480
PPP1R16B	PPP1R3B	Q86XI6	472
PPP1R16B	PPP1R12B	O60237	454
PPP1R16B	PPP1R14A	Q96A00	446
PPP1R16B	IWS1	Q96ST2	437
PPP1R16B	DHX35	Q9H5Z1	430
PPP1R16B	PRKACA	P17612	426
PPP1R16B	PRKACB	P22694	425
PPP1R16B	PRKACG	P22612	422
PPP1R16B	RWDD1	Q9H446	403

IntAct

146 interactions, top by confidence:

A	B	Type	Score
PPP1CB	PPP1R16B	psi-mi:“MI:0915”(physical association)	0.790
PPP1R16B	PPP1CB	psi-mi:“MI:0915”(physical association)	0.790
GOLGA2	PPP1R16B	psi-mi:“MI:0915”(physical association)	0.760
PPP1R16B	IKZF3	psi-mi:“MI:0915”(physical association)	0.760
PPP1R16B	GOLGA2	psi-mi:“MI:0915”(physical association)	0.760
IKZF3	PPP1R16B	psi-mi:“MI:0915”(physical association)	0.760
ZNF564	PPP1R16B	psi-mi:“MI:0915”(physical association)	0.740
PPP1CA	PPP1R16B	psi-mi:“MI:0915”(physical association)	0.740
HSPD1	NUDT19	psi-mi:“MI:0914”(association)	0.710
CEP55	PPP1R16B	psi-mi:“MI:0915”(physical association)	0.700
PPP1R16B	CEP55	psi-mi:“MI:0915”(physical association)	0.700
PPP1R16B	CRX	psi-mi:“MI:0915”(physical association)	0.670
PPP1R16B	SF3B4	psi-mi:“MI:0915”(physical association)	0.670
PPP1R16B	PHC2	psi-mi:“MI:0915”(physical association)	0.670
CRX	PPP1R16B	psi-mi:“MI:0915”(physical association)	0.670

BioGRID (93): PPP1R16B (Two-hybrid), PPP1R16B (Two-hybrid), PPP1R16B (Two-hybrid), PPP1R16B (Two-hybrid), PPP1R16B (Two-hybrid), PPP1R16B (Two-hybrid), PPP1R16B (Two-hybrid), KCTD9 (Two-hybrid), FAM208B (Two-hybrid), CEP55 (Two-hybrid), CDCA7L (Two-hybrid), CEP70 (Two-hybrid), ZNF627 (Affinity Capture-MS), ADRBK1 (Affinity Capture-MS), PPP1CA (Affinity Capture-MS)

ESM2 similar proteins: A1YVX4, A2VDR2, A3AYR1, A3KMI0, A7E2S9, A9JR78, F1REV3, O70145, O73630, O77775, P19838, P19878, P25799, P41230, Q04861, Q15327, Q4V869, Q4V8X4, Q52T38, Q5RJK8, Q5U243, Q5U2S3, Q5U2X2, Q5U312, Q5XUN4, Q62240, Q63369, Q66JD7, Q6F3J0, Q6P158, Q6P5D3, Q6PGC1, Q7SIG6, Q7Z3E5, Q7Z478, Q7ZT11, Q8IWZ3, Q8VHQ3, Q95N27, Q96T49

Diamond homologs: O14974, O60237, Q10728, Q3UMT1, Q6DRG7, Q8BG95, Q8VHQ3, Q90623, Q923M0, Q95N27, Q96I34, Q96T49, Q9BZL4, Q9DBR7, Q5DU14, Q9ERC1, Q9Y6X6

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
PRKCA	“down-regulates activity”	PPP1R16B	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	54
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2090 predictions. Top by Δscore:

Variant	Effect	Δscore
20:38836171:GGAAG:G	donor_gain	1.0000
20:38836172:GAAGG:G	donor_gain	1.0000
20:38836173:A:T	donor_gain	1.0000
20:38836173:AAGGT:A	donor_loss	1.0000
20:38836174:AGGTA:A	donor_loss	1.0000
20:38836175:GGTAG:G	donor_loss	1.0000
20:38836176:G:C	donor_loss	1.0000
20:38836177:T:G	donor_loss	1.0000
20:38889593:A:AG	acceptor_gain	1.0000
20:38889594:G:GG	acceptor_gain	1.0000
20:38891979:G:GT	donor_gain	1.0000
20:38891980:A:T	donor_gain	1.0000
20:38895559:TCCCA:T	acceptor_loss	1.0000
20:38895560:CCCA:C	acceptor_loss	1.0000
20:38895561:CCA:C	acceptor_loss	1.0000
20:38895562:CA:C	acceptor_loss	1.0000
20:38895563:A:AC	acceptor_loss	1.0000
20:38895563:A:AG	acceptor_gain	1.0000
20:38895564:G:GG	acceptor_gain	1.0000
20:38895564:GT:G	acceptor_gain	1.0000
20:38895564:GTGC:G	acceptor_gain	1.0000
20:38895564:GTGCT:G	acceptor_gain	1.0000
20:38895708:GTA:G	donor_gain	1.0000
20:38895711:G:GG	donor_gain	1.0000
20:38900575:CTGCA:C	acceptor_loss	1.0000
20:38900576:TGCAG:T	acceptor_loss	1.0000
20:38900577:GCAGT:G	acceptor_loss	1.0000
20:38900578:CAG:C	acceptor_loss	1.0000
20:38900579:A:AG	acceptor_gain	1.0000
20:38900579:A:AT	acceptor_loss	1.0000

AlphaMissense

3725 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:38836158:G:T	R78M	1.000
20:38889638:T:A	N98K	1.000
20:38889638:T:G	N98K	1.000
20:38889649:T:C	L102P	1.000
20:38889655:C:A	A104D	1.000
20:38895567:C:G	C108W	1.000
20:38895568:T:C	C109R	1.000
20:38895569:G:A	C109Y	1.000
20:38895570:C:G	C109W	1.000
20:38895602:T:C	L120P	1.000
20:38895634:G:C	D131H	1.000
20:38895635:A:C	D131A	1.000
20:38895635:A:T	D131V	1.000
20:38895646:T:A	W135R	1.000
20:38895646:T:C	W135R	1.000
20:38895648:G:C	W135C	1.000
20:38895648:G:T	W135C	1.000
20:38895653:C:A	P137H	1.000
20:38895653:C:G	P137R	1.000
20:38895667:G:C	A142P	1.000
20:38895668:C:A	A142D	1.000
20:38895701:T:C	L153P	1.000
20:38900605:C:A	N164K	1.000
20:38900605:C:G	N164K	1.000
20:38900622:C:A	P170Q	1.000
20:38900622:C:G	P170R	1.000
20:38900634:G:A	C174Y	1.000
20:38900635:C:G	C174W	1.000
20:38907049:C:A	P298Q	1.000
20:38907049:C:G	P298R	1.000

dbSNP variants (sampled 300 via entrez): RS1000002781 (20:38921024 C>T), RS1000029773 (20:38827453 C>A,T), RS1000035199 (20:38920821 G>A), RS1000045913 (20:38877955 T>A,G), RS1000046480 (20:38833965 C>G), RS1000082036 (20:38882333 G>A), RS1000098421 (20:38834322 T>G), RS1000103690 (20:38871880 T>C), RS1000106035 (20:38829309 C>A), RS1000120678 (20:38865774 C>T), RS1000120809 (20:38879247 G>A), RS1000157072 (20:38884056 G>A), RS1000162109 (20:38833755 G>A,T), RS1000172614 (20:38875905 C>G,T), RS1000234600 (20:38831533 G>T)

Disease associations

OMIM: gene MIM:613275 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST002539_92	Schizophrenia	1.000000e-11
GCST004521_49	Autism spectrum disorder or schizophrenia	1.000000e-09
GCST004691_5	Huntington’s disease progression	2.000000e-06
GCST004757_1	Alcohol dependence or chronic alcoholic pancreatitis or alcohol-related liver cirrhosis	8.000000e-07
GCST006479_78	Diverticular disease	1.000000e-06
GCST006803_7	Schizophrenia	8.000000e-17
GCST007201_163	Schizophrenia	1.000000e-10
GCST007201_264	Schizophrenia	6.000000e-11
GCST008595_226	Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)	9.000000e-11
GCST009600_55	Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)	1.000000e-09
GCST012490_198	Femur bone mineral density x serum urate levels interaction	9.000000e-10
GCST90002392_104	Mean corpuscular volume	6.000000e-09
GCST90002401_320	Platelet distribution width	2.000000e-16

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0008336	disease progression measurement
EFO:0009959	diverticular disease
EFO:0004337	intelligence
EFO:0004784	self reported educational attainment
EFO:0004531	urate measurement
EFO:0007984	platelet component distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	3
Estradiol	decreases expression, affects cotreatment	2
Nickel	increases expression	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
Tretinoin	increases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
Particulate Matter	decreases expression, increases abundance	2
GSK-J4	increases expression	1
FR900359	decreases phosphorylation	1
sotorasib	affects cotreatment, decreases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	decreases expression	1
bisphenol A	decreases methylation	1
arsenite	increases expression	1
aflatoxin B2	decreases methylation	1
S-(1,2-dichlorovinyl)cysteine	decreases expression, increases reaction, affects cotreatment	1
abrine	decreases expression	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects methylation	1
Atrazine	decreases expression	1
Benzene	increases expression	1
Cadmium	decreases expression	1
Camptothecin	decreases response to substance	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Iron	increases expression	1
Lead	affects expression	1
Lipopolysaccharides	decreases expression, affects cotreatment, increases reaction	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TF67	HAP1 PPP1R16B (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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