LSP1

Summary

LSP1 (lymphocyte specific protein 1, HGNC:6707) is a protein-coding gene on chromosome 11p15.5, encoding Lymphocyte-specific protein 1 (P33241). May play a role in mediating neutrophil activation and chemotaxis.

This gene encodes an intracellular F-actin binding protein. The protein is expressed in lymphocytes, neutrophils, macrophages, and endothelium and may regulate neutrophil motility, adhesion to fibrinogen matrix proteins, and transendothelial migration. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 4046 — RefSeq curated summary.

At a glance

• GWAS associations: 67
• Clinical variants (ClinVar): 19 total
• MANE Select transcript: NM_002339

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6707
Approved symbol	LSP1
Name	lymphocyte specific protein 1
Location	11p15.5
Locus type	gene with protein product
Status	Approved
Aliases	WP34
Ensembl gene	ENSG00000130592
Ensembl biotype	protein_coding
OMIM	153432
Entrez	4046

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 25 protein_coding, 2 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000311604, ENST00000381775, ENST00000405957, ENST00000406638, ENST00000417766, ENST00000418975, ENST00000421485, ENST00000429923, ENST00000432093, ENST00000446808, ENST00000451814, ENST00000457279, ENST00000464670, ENST00000472974, ENST00000484895, ENST00000485341, ENST00000612798, ENST00000676039, ENST00000861224, ENST00000861225, ENST00000861226, ENST00000861227, ENST00000861228, ENST00000861229, ENST00000861230, ENST00000861231, ENST00000861232, ENST00000861233, ENST00000962912

RefSeq mRNA: 6 — MANE Select: NM_002339 NM_001013253, NM_001013254, NM_001013255, NM_001242932, NM_001289005, NM_002339

CCDS: CCDS31334, CCDS31335, CCDS58110

Canonical transcript exons

ENST00000311604 — 11 exons

Exon	Start	End
ENSE00002286022	1853084	1853197
ENSE00003466989	1887237	1887314
ENSE00003484169	1884500	1884581
ENSE00003503299	1887474	1887576
ENSE00003526368	1883419	1883560
ENSE00003532964	1881432	1881596
ENSE00003599945	1880087	1880224
ENSE00003603947	1884280	1884323
ENSE00003661845	1883932	1884024
ENSE00003785499	1886732	1886866
ENSE00003899593	1891773	1892263

Expression profiles

Bgee: expression breadth ubiquitous, 140 present calls, max score 99.59.

FANTOM5 (CAGE): breadth broad, TPM avg 174.3757 / max 6005.3073, expressed in 884 samples.

FANTOM5 promoters (16 alternative TSS)

Promoter ID	TPM avg	Samples expressed
112527	122.7657	544
112528	43.6304	479
112540	4.0063	383
112532	1.3989	266
112533	0.7959	210
112537	0.3440	136
112538	0.3380	137
112541	0.3373	197
112534	0.2365	107
112525	0.1932	69

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	99.59	gold quality
blood	UBERON:0000178	99.58	gold quality
leukocyte	CL:0000738	99.41	gold quality
monocyte	CL:0000576	99.40	gold quality
spleen	UBERON:0002106	99.02	gold quality
vermiform appendix	UBERON:0001154	98.90	gold quality
bone marrow cell	CL:0002092	98.84	gold quality
right adrenal gland cortex	UBERON:0035827	98.81	gold quality
right adrenal gland	UBERON:0001233	98.80	gold quality
bone element	UBERON:0001474	98.77	gold quality
bone marrow	UBERON:0002371	98.77	gold quality
lymph node	UBERON:0000029	98.56	gold quality
left adrenal gland	UBERON:0001234	98.49	gold quality
left adrenal gland cortex	UBERON:0035825	98.41	gold quality
colonic epithelium	UBERON:0000397	97.39	gold quality
gall bladder	UBERON:0002110	96.73	gold quality
skin of leg	UBERON:0001511	96.44	gold quality
zone of skin	UBERON:0000014	96.43	gold quality
adrenal gland	UBERON:0002369	96.41	gold quality
skin of abdomen	UBERON:0001416	96.38	gold quality
sural nerve	UBERON:0015488	96.33	gold quality
ectocervix	UBERON:0012249	95.44	gold quality
placenta	UBERON:0001987	95.22	gold quality
apex of heart	UBERON:0002098	95.13	gold quality
urinary bladder	UBERON:0001255	95.12	gold quality
endocervix	UBERON:0000458	94.60	gold quality
omental fat pad	UBERON:0010414	94.18	gold quality
fundus of stomach	UBERON:0001160	94.16	gold quality
left uterine tube	UBERON:0001303	94.01	gold quality
uterine cervix	UBERON:0000002	93.91	gold quality

Single-cell (SCXA)

Detected in 30 experiment(s), a significant marker in 23.

Experiment	Marker?	Max mean expression
E-MTAB-8498	yes	3609.05
E-MTAB-9388	yes	832.46
E-MTAB-9067	yes	795.96
E-MTAB-10042	yes	594.48
E-MTAB-7407	yes	450.05
E-CURD-6	yes	351.60
E-HCAD-6	yes	289.50
E-MTAB-6701	yes	116.64
E-HCAD-1	yes	89.27
E-MTAB-8142	yes	82.89
E-HCAD-4	yes	68.87
E-MTAB-10287	yes	40.06
E-CURD-122	yes	39.39
E-HCAD-10	yes	37.46
E-CURD-46	yes	31.19

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SP1, SPI1, TP53

miRNA regulators (miRDB)

33 targeting LSP1, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-6749-3P	99.00	65.73	1443
HSA-MIR-3196	98.96	63.91	326
HSA-MIR-548S	98.50	67.17	1213
HSA-MIR-3180	98.46	64.68	348
HSA-MIR-3180-3P	98.46	64.68	348
HSA-MIR-6816-5P	98.46	64.35	364
HSA-MIR-4436B-3P	98.25	65.26	1494
HSA-MIR-6735-5P	98.24	65.36	1488
HSA-MIR-7843-5P	98.12	65.26	1421
HSA-MIR-4632-5P	97.82	65.38	1470
HSA-MIR-6879-5P	97.77	65.52	1521
HSA-MIR-665	97.60	65.64	1781
HSA-MIR-9851-5P	97.57	67.49	1067
HSA-MIR-6787-5P	97.54	63.85	457
HSA-MIR-4642	97.52	67.60	916
HSA-MIR-6726-5P	95.97	63.72	841
HSA-MIR-920	95.97	63.95	811
HSA-MIR-4300	95.85	64.56	1003
HSA-MIR-5591-5P	95.85	64.76	1002
HSA-MIR-4772-5P	95.60	68.04	617
HSA-MIR-4488	95.38	62.00	443
HSA-MIR-4697-5P	95.38	61.72	457
HSA-MIR-1237-5P	95.38	62.21	451

Literature-anchored findings (GeneRIF, showing 25)

• LSP1 interacts with F-actin and the cytoskeleton through residues downstream of amino acid residue 230. The cytoskeleton binding site of mouse LSP1 maps to the 300-330 interval. (PMID:12972289)
• Leukocyte-specific protein 1 is a cytoskeletal targeting protein for the ERK/MAP kinase pathway (PMID:15090600)
• LSP1 protein facilitates virus transport into the proteasome after its interaction with DC-SIGN through its interaction with cytoskeletal proteins. (PMID:17296787)
• MK2-regulated LSP1 phosphorylation is involved in stabilization of F-actin polarization during neutrophil chemotaxis. (PMID:17481585)
• The LSP1 and 2q35 SNPs appear to interact multiplicatively on breast cancer risk for BRCA2 mutation carriers. (PMID:19656774)
• DC-SIGN was constitutively associated with a signalosome complex consisting of the scaffold proteins LSP1, KSR1 and CNK and the kinase Raf-1 (PMID:19718030)
• Low-risk variants of LSP1 is associated with familial breast cancer. (PMID:19856316)
• The LSP1 rs3817198T>C polymorphism is a low-penetrant risk factor for developing breast cancer but may not be in Africans. (PMID:21127985)
• Single nucleotide polymorphism in LSP1 is associated with breast cancer. (PMID:22454379)
• Data indicate that slit2N alters the localization and binding of Robo1 to WASp and LSP1 in HIV-1-gp120-treated immature dendritic cells (iDCs). (PMID:23119100)
• The breast cancer SNP LSP1 rs3817198 was associated with an increased risk of lung cancer (odds ratio: 1.10) This association was strongest for women with adenocarcinoma (P = 1.2x10(-4)). (PMID:24681604)
• LSP1 rs569550 and rs592373 polymorphisms are both risk factors for breast cancer. (PMID:26191300)
• the importance of LSP1 Copy number variations and LSP1 insufficiency in the pathogenesis of rheumatoid arthritis, is reported. (PMID:26554018)
• Underexpression of LSP1 is associated with Breast Cancer Recurrence. (PMID:27165221)
• LSP1 rs3817198 T > C polymorphism is associated with increased risk of breast cancer, especially in Caucasian and Asian populations [meta-analysis] (PMID:27590509)
• Differential gene expression by SFRP2(+), FMO1(+), and COL11A1(+) fibroblasts suggests roles in matrix deposition, inflammatory cell retention, and connective tissue cell differentiation, respectively. (PMID:29080679)
• These results show that LSP1 is critical regulator of actomyosin contractility in primary macrophages. (PMID:29410425)
• Lymphocyte-specific protein 1 (LSP1) regulates bone marrow stromal cell antigen 2 (BST-2)-mediated intracellular trafficking of HIV-1 in dendritic cells. (PMID:32279313)
• Predictive and prognostic value of LSP1 rs3817198 in sporadic breast cancer in northeastern population of Iran. (PMID:32738313)
• MiR-920 and LSP1 co-regulate the growth and migration of glioblastoma cells by modulation of JAK2/STAT5 pathway. (PMID:32770294)
• Identification of Diagnostic Signatures and Immune Cell Infiltration Characteristics in Rheumatoid Arthritis by Integrating Bioinformatic Analysis and Machine-Learning Strategies. (PMID:34691030)
• The correlation of leukocyte-specific protein 1 (LSP1) rs3817198(T>C) polymorphism with breast cancer: A meta-analysis. (PMID:36397430)
• Tim-3 Is Differentially Expressed during Cell Activation and Interacts with the LSP-1 Protein in Human Macrophages. (PMID:37928435)
• Lymphocyte-Specific Protein 1 Regulates Expression and Stability of Endothelial Nitric Oxide Synthase. (PMID:38254711)
• LSP1 promotes the progression of acute myelogenous leukemia by regulating KSR/ERK signaling pathway and cell migration. (PMID:38511641)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	lsp1a	ENSDARG00000027310
danio_rerio	lsp1b	ENSDARG00000099385
mus_musculus	Lsp1	ENSMUSG00000018819
rattus_norvegicus	Lsp1	ENSRNOG00000020300

Paralogs (1): CALD1 (ENSG00000122786)

Protein

Protein identifiers

Lymphocyte-specific protein 1 — P33241 (reviewed: P33241)

Alternative names: 47 kDa actin-binding protein, 52 kDa phosphoprotein, Lymphocyte-specific antigen WP34

All UniProt accessions (9): P33241, A0A6Q8PGR6, C9J9B9, C9JDV1, C9JKF7, C9JNQ1, C9JU59, E7EMG9, E9PBD8

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in mediating neutrophil activation and chemotaxis.

Subunit / interactions. Binds actin.

Subcellular location. Cell membrane.

Tissue specificity. Activated T-lymphocytes.

Post-translational modifications. Phosphorylated by casein kinase II, protein kinase C and MAPKAPK2. Phosphorylation by PKC induces translocation from membrane to cytoplasm. Phosphorylation by MAPKAPK2 may regulate neutrophil chemotaxis.

Isoforms (3)

UniProt ID	Names	Canonical?
P33241-1	1	yes
P33241-2	2
P33241-3	3

RefSeq proteins (6): NP_001013271, NP_001013272, NP_001013273, NP_001229861, NP_001275934, NP_002330* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002211	Lymphspecific	Family
IPR006018	Caldesmon_LSP	Family

Pfam: PF02029

UniProt features (28 total): modified residue 9, sequence conflict 5, compositionally biased region 5, sequence variant 3, region of interest 2, splice variant 2, chain 1, helix 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
3BH8	X-RAY DIFFRACTION	1.65
4NO2	X-RAY DIFFRACTION	2
4NO0	X-RAY DIFFRACTION	2.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P33241-F1	60.31	0.10

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 (9): 175, 177, 188, 189, 193, 252, 327, 24, 111

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 281 (showing top): WALLACE_PROSTATE_CANCER_RACE_UP, GRUETZMANN_PANCREATIC_CANCER_DN, MCLACHLAN_DENTAL_CARIES_UP, GOBP_RESPONSE_TO_PEPTIDE, MODULE_45, MODULE_64, AREB6_03, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, AREB6_01, MODULE_16, CAGCTG_AP4_Q5, MODULE_118, GOBP_TAXIS, MODULE_75, HOWLIN_PUBERTAL_MAMMARY_GLAND

GO Biological Process (6): chemotaxis (GO:0006935), cellular defense response (GO:0006968), signal transduction (GO:0007165), cellular response to interleukin-7 (GO:0098761), muscle contraction (GO:0006936), defense response (GO:0006952)

GO Molecular Function (4): actin binding (GO:0003779), protein binding (GO:0005515), calmodulin binding (GO:0005516), myosin binding (GO:0017022)

GO Cellular Component (4): plasma membrane (GO:0005886), actin cytoskeleton (GO:0015629), membrane (GO:0016020), extracellular exosome (GO:0070062)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoskeletal protein binding	2
response to chemical	1
taxis	1
defense response	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
cellular response to cytokine stimulus	1
response to interleukin-7	1
muscle system process	1
response to stress	1
binding	1
protein binding	1
membrane	1
cell periphery	1
cytoskeleton	1
cellular anatomical structure	1
extracellular vesicle	1

Protein interactions and networks

STRING

1176 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LSP1	KSR1	Q8IVT5	986
LSP1	TOX3	O15405	892
LSP1	CD209	Q9NNX6	885
LSP1	MAP3K1	Q13233	760
LSP1	SLC4A7	Q9Y6M7	743
LSP1	NEK10	Q6ZWH5	739
LSP1	COX11	Q9Y6N1	711
LSP1	BRCA2	P51587	706
LSP1	RAD51B	O15315	703
LSP1	BRCA1	P38398	654
LSP1	FGFR2	P18443	594
LSP1	MAPKAPK2	P49137	549
LSP1	PALB2	Q86YC2	548
LSP1	B3GLCT	Q6Y288	548
LSP1	NEXN	Q0ZGT2	519

IntAct

19 interactions, top by confidence:

A	B	Type	Score
LSP1	FAM120B	psi-mi:“MI:0915”(physical association)	0.400
LSP1	PCNA	psi-mi:“MI:0915”(physical association)	0.370
LSP1	CFTR	psi-mi:“MI:0915”(physical association)	0.370
CFTR	LSP1	psi-mi:“MI:0915”(physical association)	0.370
LSP1	GREB1	psi-mi:“MI:0915”(physical association)	0.370
LSP1	IL24	psi-mi:“MI:0915”(physical association)	0.370
KLK6	LSP1	psi-mi:“MI:0915”(physical association)	0.370
LSP1	LYPD3	psi-mi:“MI:0915”(physical association)	0.370
LSP1	SCGB2A2	psi-mi:“MI:0915”(physical association)	0.370
LSP1	SNAI1	psi-mi:“MI:0915”(physical association)	0.370
THRSP	LSP1	psi-mi:“MI:0915”(physical association)	0.370
LSP1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
ATG16L1		psi-mi:“MI:0914”(association)	0.350
HMGCLL1	LSP1	psi-mi:“MI:0914”(association)	0.350
KLK10	IGLL5	psi-mi:“MI:0914”(association)	0.350

BioGRID (48): LSP1 (Biochemical Activity), GREB1 (Two-hybrid), IL24 (Two-hybrid), KLK6 (Two-hybrid), LYPD3 (Two-hybrid), SCGB2A2 (Two-hybrid), SNAI1 (Two-hybrid), THRSP (Two-hybrid), LSP1 (Affinity Capture-MS), BTRC (Affinity Capture-MS), SCIN (Affinity Capture-MS), ZMYM6 (Affinity Capture-MS), GSN (Affinity Capture-MS), FBXW11 (Affinity Capture-MS), TMOD2 (Affinity Capture-MS)

ESM2 similar proteins: A0P8Z5, A2AI08, A2ALU4, A4IGN8, B0KYV5, D3ZUI5, F1LR10, O00515, O46385, O54931, O75128, O75152, O75410, O95425, P33241, P57016, Q3U1C4, Q3UMF0, Q3UZA1, Q53SF7, Q5NBX1, Q5PQK4, Q5PQN4, Q5PR69, Q5RC32, Q5REG6, Q5U301, Q5U5Q9, Q5XHX2, Q5ZJ26, Q5ZJJ1, Q5ZMW6, Q6INC4, Q6NZF1, Q6ZU35, Q7TNY7, Q80X08, Q80XI1, Q8BRV5, Q8CCJ4

Diamond homologs: P19973, P33241, Q05682, Q62736, P13505, P12957, Q27976

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
MAPKAPK2	unknown	LSP1	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

98 predictions. Top by Δscore:

Variant	Effect	Δscore
11:1890713:T:TA	donor_gain	0.9500
11:1890786:A:AC	donor_gain	0.8200
11:1890784:CCA:C	donor_gain	0.8100
11:1890724:CAGA:C	donor_gain	0.6200
11:1890725:AGAA:A	donor_gain	0.6200
11:1890732:G:A	donor_gain	0.6000
11:1889272:CGG:C	acceptor_gain	0.5800
11:1889273:G:T	acceptor_gain	0.5700
11:1890355:T:TA	donor_gain	0.5700
11:1889593:T:G	acceptor_gain	0.5500
11:1890126:A:AT	donor_gain	0.5500
11:1890849:G:A	donor_gain	0.5300
11:1889591:C:CC	acceptor_gain	0.4900
11:1889592:T:TG	acceptor_gain	0.4700
11:1890125:C:CT	donor_gain	0.4500
11:1890674:G:GT	donor_gain	0.4500
11:1889590:A:AC	acceptor_gain	0.4300
11:1890164:T:TA	donor_gain	0.4200
11:1890723:CCAG:C	donor_gain	0.4200
11:1890791:CCTAG:C	donor_gain	0.4200
11:1890792:C:T	donor_gain	0.4100
11:1890758:G:A	donor_gain	0.4000
11:1890722:CCCA:C	donor_gain	0.3700
11:1889592:T:C	acceptor_gain	0.3600
11:1890455:T:TA	donor_gain	0.3200
11:1889461:T:TA	donor_gain	0.3100
11:1890727:A:T	donor_gain	0.3100
11:1890842:A:AC	donor_gain	0.3100
11:1890589:GTGTC:G	acceptor_loss	0.3000
11:1890590:TGTC:T	acceptor_loss	0.3000

AlphaMissense

2234 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:1887501:T:C	F320L	0.996
11:1887503:T:A	F320L	0.996
11:1887503:T:G	F320L	0.996
11:1886815:G:C	W267C	0.992
11:1886815:G:T	W267C	0.992
11:1886813:T:A	W267R	0.990
11:1886813:T:C	W267R	0.990
11:1887502:T:C	F320S	0.990
11:1887525:T:C	Y328H	0.990
11:1887502:T:G	F320C	0.986
11:1887275:G:C	W297C	0.985
11:1887275:G:T	W297C	0.985
11:1887273:T:A	W297R	0.984
11:1887273:T:C	W297R	0.984
11:1887526:A:C	Y328S	0.984
11:1887526:A:G	Y328C	0.983
11:1887525:T:G	Y328D	0.981
11:1886806:G:C	K264N	0.978
11:1886806:G:T	K264N	0.978
11:1881481:T:C	F81L	0.974
11:1881483:T:A	F81L	0.974
11:1881483:T:G	F81L	0.974
11:1887533:G:C	K330N	0.974
11:1887533:G:T	K330N	0.974
11:1886814:G:C	W267S	0.972
11:1887525:T:A	Y328N	0.969
11:1887495:T:G	Y318D	0.965
11:1884573:G:C	A237P	0.964
11:1887520:G:A	G326E	0.962
11:1887520:G:T	G326V	0.962

dbSNP variants (sampled 300 via entrez): RS1000004253 (11:1851723 G>A,C), RS1000020674 (11:1890617 A>G), RS1000076990 (11:1862288 C>A,T), RS1000117247 (11:1885779 A>C), RS1000256358 (11:1866331 G>A), RS1000336538 (11:1852704 T>C), RS1000366717 (11:1860763 T>C), RS1000428207 (11:1862095 A>G), RS1000485558 (11:1858240 C>T), RS1000519442 (11:1881583 G>A), RS1000726002 (11:1853504 G>A), RS1000833506 (11:1862704 T>C), RS1000903936 (11:1890147 G>A,T), RS1000990983 (11:1856989 C>A,T), RS1001011200 (11:1852610 C>G,T)

Disease associations

OMIM: gene MIM:153432 | disease phenotypes: MIM:605407, MIM:616345

GenCC curated gene-disease

Mondo (2): TH-deficient dopa-responsive dystonia (MONDO:0011551), immunodeficiency 39 (MONDO:0014597)

Orphanet (2): Autosomal recessive dopa-responsive dystonia (Orphanet:101150), Predisposition to severe viral infection due to IRF7 deficiency (Orphanet:574918)

HPO phenotypes

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

GWAS associations

67 associations (top):

Study	Trait	p-value
GCST000035_6	Breast cancer	3.000000e-09
GCST000678_6	Breast cancer	7.000000e-07
GCST000964_20	Ulcerative colitis	1.000000e-10
GCST001725_8	Inflammatory bowel disease	3.000000e-10
GCST001937_39	Breast cancer	2.000000e-11
GCST002112_1	Celiac disease	7.000000e-06
GCST002243_2	Bladder cancer	4.000000e-08
GCST002667_7	Mammographic density (dense area)	1.000000e-10
GCST002788_3	Milk allergy	2.000000e-06
GCST003842_12	Breast cancer (estrogen-receptor negative)	3.000000e-06
GCST003845_13	Breast cancer	9.000000e-09
GCST004131_114	Inflammatory bowel disease	1.000000e-06
GCST004133_70	Ulcerative colitis	1.000000e-07
GCST004136_28	Methadone dose in opioid dependence	6.000000e-06
GCST004608_168	Granulocyte percentage of myeloid white cells	2.000000e-11
GCST004609_22	Monocyte percentage of white cells	5.000000e-13
GCST004625_111	Monocyte count	5.000000e-16
GCST004988_13	Breast cancer	1.000000e-18
GCST005979_17	Systolic blood pressure	2.000000e-08
GCST006010_13	Mean arterial pressure	4.000000e-09
GCST006031_9	Potassium levels	1.000000e-12
GCST006166_77	Diastolic blood pressure x alcohol consumption interaction (2df test)	1.000000e-26
GCST006166_93	Diastolic blood pressure x alcohol consumption interaction (2df test)	5.000000e-20
GCST006167_39	Mean arterial pressure x alcohol consumption interaction (2df test)	1.000000e-10
GCST006167_52	Mean arterial pressure x alcohol consumption interaction (2df test)	4.000000e-21
GCST006167_56	Mean arterial pressure x alcohol consumption interaction (2df test)	2.000000e-16
GCST006168_11	Pulse pressure x alcohol consumption interaction (2df test)	3.000000e-35
GCST006168_12	Pulse pressure x alcohol consumption interaction (2df test)	2.000000e-15
GCST006168_36	Pulse pressure x alcohol consumption interaction (2df test)	4.000000e-28
GCST006170_3	Systolic blood pressure x alcohol consumption (light vs heavy) interaction (2df test)	8.000000e-17

EFO canonical traits (18, from GWAS)

EFO ID	Trait name
EFO:0005941	mammographic density measurement
EFO:0006503	dense area measurement
EFO:0007019	milk allergy measurement
EFO:0007907	methadone dose measurement
EFO:0007997	granulocyte percentage of myeloid white cells
EFO:0007989	monocyte percentage of leukocytes
EFO:0005091	monocyte count
EFO:0006335	systolic blood pressure
EFO:0006340	mean arterial pressure
EFO:0009283	potassium measurement
EFO:0004329	alcohol drinking
EFO:0006336	diastolic blood pressure
EFO:0005763	pulse pressure measurement
EFO:0006527	smoking status measurement
EFO:0009927	Antihypertensive use measurement
EFO:0009929	Beta blocking agent use measurement
EFO:0005213	central corneal thickness
EFO:0004587	lymphocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression, increases methylation	5
Tretinoin	affects cotreatment, increases expression	4
Arsenic Trioxide	affects cotreatment, increases expression	3
Air Pollutants	affects expression, increases abundance, decreases expression, increases expression	3
Smoke	decreases expression, increases abundance, increases expression	3
Calcitriol	decreases expression, increases expression	2
Tobacco Smoke Pollution	decreases expression	2
bisphenol F	affects cotreatment, increases methylation	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
deoxynivalenol	decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	increases expression	1
sulforaphane	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	increases expression	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	increases expression	1
aflatoxin B2	decreases methylation	1
nickel sulfate	decreases expression	1
tamibarotene	increases expression	1
perfluorooctane sulfonic acid	increases expression	1
seocalcitol	decreases expression	1
nutlin 3	increases expression, affects cotreatment	1
abrine	increases expression	1
jinfukang	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
nabiximols	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1

Clinical trials (associated diseases)

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