PTTG1IP

Summary

PTTG1IP (PTTG1 interacting protein, HGNC:13524) is a protein-coding gene on chromosome 21q22.3, encoding Pituitary tumor-transforming gene 1 protein-interacting protein (P53801). May facilitate PTTG1 nuclear translocation.

This gene encodes a single-pass type I integral membrane protein, which binds to pituitary tumor-transforming 1 protein (PTTG1), and facilitates translocation of PTTG1 into the nucleus. Coexpression of this protein and PTTG1 induces transcriptional activation of basic fibroblast growth factor. Alternatively spliced transcript variants have been found for this gene.

Source: NCBI Gene 754 — RefSeq curated summary.

At a glance

• GWAS associations: 29
• Clinical variants (ClinVar): 39 total
• MANE Select transcript: NM_004339

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13524
Approved symbol	PTTG1IP
Name	PTTG1 interacting protein
Location	21q22.3
Locus type	gene with protein product
Status	Approved
Aliases	PBF, PTTG1IP1
Ensembl gene	ENSG00000183255
Ensembl biotype	protein_coding
OMIM	603784
Entrez	754

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 12 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000330938, ENST00000397886, ENST00000397887, ENST00000445724, ENST00000474737, ENST00000480234, ENST00000494690, ENST00000898877, ENST00000898878, ENST00000898879, ENST00000898880, ENST00000898881, ENST00000898882, ENST00000949455, ENST00000949456

RefSeq mRNA: 2 — MANE Select: NM_004339 NM_001286822, NM_004339

CCDS: CCDS13715, CCDS68221

Canonical transcript exons

ENST00000330938 — 6 exons

Exon	Start	End
ENSE00001291155	44855210	44855256
ENSE00001303620	44873502	44873690
ENSE00003464385	44865395	44865447
ENSE00003496468	44856193	44856364
ENSE00003589141	44861163	44861271
ENSE00003848347	44849598	44851627

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.62.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 193.2507 / max 1289.2810, expressed in 1827 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
190787	155.0882	1827
190786	32.8311	1820
190788	4.0854	1588
190782	1.1893	760
190784	0.0328	6
190783	0.0218	9
209338	0.0021	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
visceral pleura	UBERON:0002401	99.62	gold quality
tibia	UBERON:0000979	99.53	gold quality
pleura	UBERON:0000977	99.51	gold quality
parietal pleura	UBERON:0002400	99.47	gold quality
palpebral conjunctiva	UBERON:0001812	99.24	gold quality
cartilage tissue	UBERON:0002418	99.24	gold quality
placenta	UBERON:0001987	99.09	gold quality
decidua	UBERON:0002450	99.04	gold quality
parotid gland	UBERON:0001831	99.00	gold quality
right coronary artery	UBERON:0001625	98.94	gold quality
bronchial epithelial cell	CL:0002328	98.92	gold quality
descending thoracic aorta	UBERON:0002345	98.91	gold quality
ascending aorta	UBERON:0001496	98.85	gold quality
thoracic aorta	UBERON:0001515	98.85	gold quality
endothelial cell	CL:0000115	98.81	gold quality
aorta	UBERON:0000947	98.81	gold quality
popliteal artery	UBERON:0002250	98.78	gold quality
adult organism	UBERON:0007023	98.78	gold quality
tibial artery	UBERON:0007610	98.78	gold quality
epithelial cell of pancreas	CL:0000083	98.77	gold quality
lower lobe of lung	UBERON:0008949	98.77	gold quality
sural nerve	UBERON:0015488	98.77	gold quality
gall bladder	UBERON:0002110	98.74	gold quality
colonic mucosa	UBERON:0000317	98.73	gold quality
stromal cell of endometrium	CL:0002255	98.72	gold quality
urethra	UBERON:0000057	98.71	gold quality
mucosa of sigmoid colon	UBERON:0004993	98.69	gold quality
jejunal mucosa	UBERON:0000399	98.67	gold quality
epithelium of bronchus	UBERON:0002031	98.67	gold quality
bronchus	UBERON:0002185	98.64	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-112	no	3.29
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPB, ESR1, PTTG1, RUNX2, STAT1

miRNA regulators (miRDB)

43 targeting PTTG1IP, 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-507	99.97	70.11	1915
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-4527	99.66	67.43	714
HSA-MIR-26A-1-3P	99.64	66.81	788
HSA-MIR-26A-2-3P	99.64	66.82	786
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-6503-5P	99.62	66.96	597
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-105-5P	99.54	69.24	2060
HSA-MIR-7853-5P	99.54	69.30	2055
HSA-MIR-186-3P	99.51	66.24	1685
HSA-MIR-6833-5P	99.50	68.93	1161
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-582-5P	99.47	70.79	2635
HSA-MIR-7849-3P	99.47	68.17	1224
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-329-5P	99.27	68.11	1597
HSA-MIR-4279	99.19	66.70	2437
HSA-MIR-1253	99.12	67.08	1688

Literature-anchored findings (GeneRIF, showing 20)

• PTTG expression was higher in malignant cells than in primary astrocytes, whereas PTTG-binding factor was not in astrocytoma (PMID:15178645)
• overexpression of PTTG and PBF in differentiated thyroid cancer has profound implications for activity of the NIS gene, and hence significantly impacts upon the efficacy of radioiodine treatment. (PMID:17297475)
• PBF’s role in endocrine cancer is discussed. [review] (PMID:21129230)
• overexpression of PBF causes thyroid cell proliferation, macrofollicular lesions, and hyperplasia, as well as repression of the critical therapeutic route for radioiodide uptake (PMID:21844185)
• The present study provides the first epidemiological evidence that functional regulatory variants of PTTG1IP were associated with the risk of ER-positive breast cancer, further supporting its relevance as one proto-oncogene in breast cancer. (PMID:22404099)
• PBF expression may be a promising biomarker for prognostic and therapeutic purposes in papillary thyroid carcinoma patients. (PMID:22888961)
• Authors identified pituitary tumor-transforming gene 1 (PTTG1) binding factor (PBF) as a target of miR-122 and demonstrated that hepatitis B virus replication causes an obvious increase in PBF levels. (PMID:23221562)
• Data from mutant recombinant proteins suggest that proto-oncogene PBF is a phosphoprotein and highlight importance of tyrosine residue Y174 in both endocytosis of PBF and its interaction/co-localization with NIS/SLC5A5 (sodium-iodide symporter). (PMID:23678037)
• protooncogene PBF is a negative regulator of p53 function in thyroid tumorigenesis, in which PBF is generally overexpressed and p53 mutations are rare compared with other tumor types (PMID:24506068)
• these results demonstrate an emerging role for PBF in colorectal tumorigenesis through regulating p53 activity, with implications for PBF as a prognostic indicator for invasive tumors. (PMID:25408419)
• These findings indicate that miR-584 suppresses glioma cell growth by negatively regulating the expression of PTTG1IP, suggesting that miR-584 has a tumor suppressive role in human glioma pathogenesis. (PMID:25674221)
• Unique role for PBF in regulating CTTN function to promote endocrine cell invasion and migration. (PMID:27603901)
• PTTG1IP and MAML3 are associated with BHR severity in adult asthma. The relevance of these genes is supported by the eQTL analyses and co-expression of PTTG1lP with vimentin and E-cadherin1, and MAML3 with MAML2. (PMID:27709636)
• Findings indicate that PBF and PTTG have a critical role in promoting thyroid cancer that is predictive of poorer patient outcome. (PMID:28504713)
• data reveal new insight into PBF function and confirm that, rather than being oncogenic, mutations in PBF are likely to be passenger effects, with overexpression of PBF the more important etiological event in human cancer (PMID:28676500)
• Nnegative pituitary tumor-transforming gene 1 protein-interacting protein (PTTG1IP) immunoexpression predicted a 1.5-fold risk of breast cancer death. (PMID:29078751)
• PTTG and PBF interact in head and neck squamous cell carcinoma to reduce p53 stability and function (PMID:30154144)
• PBF is a novel AR target gene and plays a role in androgen-induced proliferation and metastatic functions (PMID:30569723)
• CircPTTG1IP knockdown suppresses rheumatoid arthritis progression by targeting miR-431-5p/FSTL1 axis. (PMID:35933079)
• Sp4 Regulates PTTG1IP Gene Transcription and Expression. (PMID:36383136)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Pttg1ip	ENSMUSG00000009291
rattus_norvegicus	Pttg1ip	ENSRNOG00000001223

Paralogs (1): PTTG1IP2 (ENSG00000251154)

Protein

Protein identifiers

Pituitary tumor-transforming gene 1 protein-interacting protein — P53801 (reviewed: P53801)

Alternative names: Pituitary tumor-transforming gene protein-binding factor

All UniProt accessions (4): A8MXQ1, A8MZH8, B4DPZ0, P53801

UniProt curated annotations — full annotation on UniProt →

Function. May facilitate PTTG1 nuclear translocation.

Subunit / interactions. Interacts with PTTG1.

Subcellular location. Membrane. Cytoplasm. Nucleus.

Tissue specificity. Ubiquitous.

Induction. By transcription factor RUNX2.

RefSeq proteins (2): NP_001273751, NP_004330* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR016201	PSI	Domain
IPR052304	PTTG1IP	Family

UniProt features (13 total): glycosylation site 2, sequence conflict 2, topological domain 2, signal peptide 1, chain 1, transmembrane region 1, domain 1, region of interest 1, coiled-coil region 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P53801-F1	77.51	0.31

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): 174

Glycosylation sites (2): 54, 45

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 245 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_UP, GOBP_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_BY_P53_CLASS_MEDIATOR, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOZGIT_ESR1_TARGETS_DN, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_REGULATION_OF_DNA_DAMAGE_RESPONSE_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_NUCLEAR_TRANSPORT, GTGCCTT_MIR506, GOBP_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, BACOLOD_RESISTANCE_TO_ALKYLATING_AGENTS_DN, MODULE_239, GOBP_APOPTOTIC_SIGNALING_PATHWAY, MARTINEZ_RB1_TARGETS_DN, BLALOCK_ALZHEIMERS_DISEASE_UP

GO Biological Process (4): protein import into nucleus (GO:0006606), positive regulation of protein ubiquitination (GO:0031398), negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518), negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)

GO Molecular Function (2): p53 binding (GO:0002039), protein binding (GO:0005515)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), membrane (GO:0016020), extracellular exosome (GO:0070062)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
negative regulation of signal transduction by p53 class mediator	2
intracellular protein transport	1
protein localization to nucleus	1
import into nucleus	1
establishment of protein localization to organelle	1
protein ubiquitination	1
regulation of protein ubiquitination	1
positive regulation of protein modification by small protein conjugation or removal	1
DNA damage response, signal transduction by p53 class mediator	1
regulation of DNA damage response, signal transduction by p53 class mediator	1
intrinsic apoptotic signaling pathway by p53 class mediator	1
regulation of intrinsic apoptotic signaling pathway by p53 class mediator	1
negative regulation of intrinsic apoptotic signaling pathway	1
protein binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
extracellular vesicle	1

Protein interactions and networks

STRING

380 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PTTG1IP	PTTG1	O95997	855
PTTG1IP	JAM2	P57087	691
PTTG1IP	SYNJ1	O43426	678
PTTG1IP	PKNOX1	P55347	641
PTTG1IP	NDUFV3	P56181	616
PTTG1IP	ADAMTS1	Q9UHI8	593
PTTG1IP	WDR4	P57081	550
PTTG1IP	RCAN1	P53805	545
PTTG1IP	DYRK1A	Q13627	538
PTTG1IP	U2AF1	Q01081	530
PTTG1IP	H7C2H4	H7C2H4	528
PTTG1IP	P0DN79	P0DN79	526
PTTG1IP	ETS2	P15036	517
PTTG1IP	SCPEP1	Q9HB40	498
PTTG1IP	MAML3	Q96JK9	454

IntAct

73 interactions, top by confidence:

A	B	Type	Score
STX11	SNAP23	psi-mi:“MI:0914”(association)	0.900
NAPA	SNAP23	psi-mi:“MI:0914”(association)	0.780
STX7	SNAP23	psi-mi:“MI:0914”(association)	0.640
LDLRAD1	PTTG1IP	psi-mi:“MI:0915”(physical association)	0.560
CLEC7A	PTTG1IP	psi-mi:“MI:0915”(physical association)	0.560
PTTG1IP	LDLRAD1	psi-mi:“MI:0915”(physical association)	0.560
PTTG1IP	CLEC7A	psi-mi:“MI:0915”(physical association)	0.560
PTTG1IP	SLC22A23	psi-mi:“MI:0915”(physical association)	0.560
PTTG1IP	TMEM106C	psi-mi:“MI:0915”(physical association)	0.560
TMPRSS2	PTTG1IP	psi-mi:“MI:0915”(physical association)	0.560
PTTG1IP	SGCB	psi-mi:“MI:0915”(physical association)	0.560
TNFSF14	PTTG1IP	psi-mi:“MI:0915”(physical association)	0.560
ATP6AP2	PTTG1IP	psi-mi:“MI:0915”(physical association)	0.560
SLC22A23	PTTG1IP	psi-mi:“MI:0915”(physical association)	0.560
PTTG1IP	AMIGO1	psi-mi:“MI:0915”(physical association)	0.560
CRYAA	PTTG1IP	psi-mi:“MI:0915”(physical association)	0.560
PTTG1IP	ATN1	psi-mi:“MI:0915”(physical association)	0.560
PTTG1IP	KLK6	psi-mi:“MI:0915”(physical association)	0.560
PTTG1IP	PTGS1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (83): CLEC7A (Two-hybrid), LDLRAD1 (Two-hybrid), TP53 (Reconstituted Complex), TP53 (Affinity Capture-Western), PTTG1IP (Affinity Capture-Western), PTTG1IP (Affinity Capture-MS), PTTG1IP (Synthetic Growth Defect), PTTG1IP (Affinity Capture-MS), PTTG1IP (Affinity Capture-MS), PTTG1IP (Affinity Capture-RNA), PTTG1IP (Affinity Capture-MS), PTTG1IP (Proximity Label-MS), PTTG1IP (Proximity Label-MS), PTTG1IP (Two-hybrid), PTTG1IP (Two-hybrid)

ESM2 similar proteins: A0A1B0GU71, A6QPI4, B2RV13, D4A6L0, E1BBQ2, F1LQY6, G3UW36, O08856, P15382, P53801, P55199, P56182, Q08CB3, Q0VF94, Q148E1, Q17RQ9, Q2KJ58, Q32Q90, Q4R5F9, Q4V8A6, Q4VA36, Q5I0I4, Q5NVI6, Q5R8Q2, Q5T6X4, Q5T848, Q5XII8, Q68EN5, Q6P767, Q8C419, Q8CHT6, Q8R143, Q8R1T1, Q8TBN0, Q8VDV3, Q8WUX9, Q90YH8, Q91WM6, Q91ZP9, Q96IL0

Diamond homologs: P53801, Q5NVI6, Q6P767, Q8R143

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
SRC	“up-regulates activity”	PTTG1IP	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 48 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
Neutrophil degranulation	9	6.9×	7e-04

GO biological processes:

GO term	Partners	Fold	FDR
obsolete vesicle docking	6	109.4×	2e-09
vesicle fusion	7	100.3×	2e-10
membrane fusion	5	74.3×	8e-07
exocytosis	7	25.3×	1e-06
intracellular protein transport	7	10.8×	2e-04
protein transport	8	8.4×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	24
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1247 predictions. Top by Δscore:

Variant	Effect	Δscore
21:44851623:CAGGC:C	acceptor_gain	1.0000
21:44851624:AGGC:A	acceptor_gain	1.0000
21:44851625:GGC:G	acceptor_gain	1.0000
21:44851626:GC:G	acceptor_gain	1.0000
21:44851627:CC:C	acceptor_gain	1.0000
21:44851628:C:CC	acceptor_gain	1.0000
21:44865393:A:AC	donor_gain	1.0000
21:44865394:C:CC	donor_gain	1.0000
21:44865444:CAAG:C	acceptor_gain	1.0000
21:44855204:CCTTA:C	donor_loss	0.9900
21:44855205:CTTA:C	donor_loss	0.9900
21:44855206:TTAC:T	donor_loss	0.9900
21:44855207:TACCA:T	donor_loss	0.9900
21:44855208:ACCAT:A	donor_loss	0.9900
21:44855209:C:CT	donor_loss	0.9900
21:44855254:CTC:C	acceptor_gain	0.9900
21:44856365:C:CC	acceptor_gain	0.9900
21:44861156:GACTT:G	donor_loss	0.9900
21:44861157:ACTT:A	donor_loss	0.9900
21:44861158:CTT:C	donor_loss	0.9900
21:44861159:TTA:T	donor_loss	0.9900
21:44861160:TAC:T	donor_loss	0.9900
21:44861161:ACC:A	donor_gain	0.9900
21:44861162:C:A	donor_loss	0.9900
21:44861162:CCC:C	donor_gain	0.9900
21:44861270:CA:C	acceptor_gain	0.9900
21:44861272:C:CC	acceptor_gain	0.9900
21:44863681:T:TA	donor_gain	0.9900
21:44865386:GCTAC:G	donor_loss	0.9900
21:44865387:CTACT:C	donor_loss	0.9900

AlphaMissense

1166 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:44855220:T:A	R162S	0.998
21:44855220:T:G	R162S	0.998
21:44855221:C:G	R162T	0.998
21:44861176:C:A	W88C	0.998
21:44861176:C:G	W88C	0.998
21:44861263:C:A	W59C	0.998
21:44861263:C:G	W59C	0.998
21:44861198:C:G	C81S	0.997
21:44861199:A:T	C81S	0.997
21:44855224:A:G	I161T	0.996
21:44855214:T:A	K164N	0.995
21:44855214:T:G	K164N	0.995
21:44855224:A:C	I161S	0.995
21:44856193:C:G	R150P	0.995
21:44861178:A:G	W88R	0.995
21:44861178:A:T	W88R	0.995
21:44861180:C:G	R87P	0.995
21:44855221:C:A	R162I	0.994
21:44861198:C:T	C81Y	0.994
21:44861261:C:G	C60S	0.994
21:44861262:A:T	C60S	0.994
21:44855212:T:G	Y165S	0.993
21:44861243:C:G	C66S	0.993
21:44861244:A:T	C66S	0.993
21:44861169:A:G	C91R	0.992
21:44861199:A:G	C81R	0.992
21:44861265:A:G	W59R	0.992
21:44861265:A:T	W59R	0.992
21:44851594:A:C	F177C	0.991
21:44855213:A:C	Y165D	0.991

dbSNP variants (sampled 300 via entrez): RS1000110094 (21:44855432 C>A), RS1000142997 (21:44865535 G>C), RS1000185625 (21:44868043 G>A), RS1000306069 (21:44860896 C>T), RS1000356957 (21:44852731 T>C,G), RS1000434520 (21:44857288 C>A,G), RS1000478368 (21:44872617 C>G), RS1000578697 (21:44857016 T>C), RS1000675813 (21:44874518 G>A), RS1000840211 (21:44869883 C>T), RS1001080502 (21:44864277 T>TTA), RS1001123441 (21:44864657 A>G), RS1001171938 (21:44866660 A>G), RS1001173024 (21:44874191 C>T), RS1001267382 (21:44866871 A>T)

Disease associations

OMIM: gene MIM:603784 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

29 associations (top):

Study	Trait	p-value
GCST004602_241	Mean corpuscular volume	2.000000e-22
GCST004630_34	Mean corpuscular hemoglobin	3.000000e-21
GCST005851_10	Delirium	8.000000e-07
GCST006005_9	High density lipoprotein cholesterol levels	3.000000e-10
GCST006019_41	Gamma glutamyl transferase levels	3.000000e-09
GCST006611_136	HDL cholesterol	4.000000e-10
GCST006804_149	Red cell distribution width	1.000000e-10
GCST007844_15	Ankylosing spondylitis	8.000000e-06
GCST008070_136	HDL cholesterol levels	4.000000e-06
GCST008070_28	HDL cholesterol levels	4.000000e-10
GCST008075_112	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	3.000000e-16
GCST008075_221	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	8.000000e-08
GCST008075_77	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	2.000000e-08
GCST008084_119	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	2.000000e-08
GCST008084_230	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	2.000000e-18
GCST008084_84	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	1.000000e-09
GCST008085_107	HDL cholesterol levels in current drinkers	3.000000e-06
GCST008085_28	HDL cholesterol levels in current drinkers	1.000000e-11
GCST008085_4	HDL cholesterol levels in current drinkers	3.000000e-06
GCST010241_188	Apolipoprotein A1 levels	2.000000e-27
GCST010242_403	HDL cholesterol levels	2.000000e-20
GCST011348_60	High density lipoprotein cholesterol levels	3.000000e-13
GCST90002390_310	Mean corpuscular hemoglobin	5.000000e-43
GCST90002392_127	Mean corpuscular volume	1.000000e-43
GCST90002396_78	Mean reticulocyte volume	4.000000e-37
GCST90002397_300	Mean spheric corpuscular volume	3.000000e-22
GCST90002404_587	Red cell distribution width	5.000000e-37
GCST90013405_53	Liver enzyme levels (alanine transaminase)	7.000000e-17
GCST90013407_54	Liver enzyme levels (gamma-glutamyl transferase)	7.000000e-38

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004527	mean corpuscular hemoglobin
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004532	serum gamma-glutamyl transferase measurement
EFO:0009188	Red cell distribution width
EFO:0004329	alcohol drinking
EFO:0004614	apolipoprotein A 1 measurement
EFO:0010701	mean reticulocyte volume

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects expression, increases abundance, decreases expression	3
bisphenol A	affects expression, decreases expression	2
sodium arsenite	increases expression	2
Particulate Matter	decreases expression, increases abundance	2
triphenyl phosphate	affects expression	1
trichostatin A	affects expression	1
cobaltous chloride	increases expression	1
butyraldehyde	increases expression	1
CGP 52608	affects binding, increases reaction	1
bisphenol B	increases expression	1
bisphenol S	increases expression	1
bisphenol AF	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Benzo(a)pyrene	affects methylation	1
Caffeine	increases phosphorylation	1
Lipopolysaccharides	affects expression, affects response to substance	1
Ozone	affects expression, increases abundance	1
Plant Extracts	affects cotreatment, increases expression	1
Rotenone	increases expression	1
Silicon Dioxide	increases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	affects expression	1
Sodium Selenite	increases expression	1
Antirheumatic Agents	decreases expression	1

Clinical trials (associated diseases)

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