DEFA1B

Summary

DEFA1B (defensin alpha 1B, HGNC:33596) is a protein-coding gene on chromosome 8p23.1, encoding Neutrophil defensin 1 (P59665). Effector molecule of the innate immune system that acts via antibiotic-like properties against a broad array of infectious agents including bacteria, fungi, and viruses or by promoting the activation and maturation of some APCs.

Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 1, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 3 by only one amino acid. This gene and the gene encoding defensin, alpha 3 are both subject to copy number variation. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 728358 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Druggable target: yes
• MANE Select transcript: NM_001042500

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33596
Approved symbol	DEFA1B
Name	defensin alpha 1B
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000240247
Ensembl biotype	protein_coding
Entrez	728358

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000382689, ENST00000881278, ENST00000958684, ENST00000958685

RefSeq mRNA: 2 — MANE Select: NM_001042500 NM_001042500, NM_001302265

CCDS: CCDS43691

Canonical transcript exons

ENST00000382689 — 3 exons

Exon	Start	End
ENSE00001308473	6999123	6999198
ENSE00001594132	6996766	6996996
ENSE00001719543	6997577	6997763

Expression profiles

Bgee: expression breadth ubiquitous, 107 present calls, max score 99.53.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	99.53	gold quality
granulocyte	CL:0000094	97.73	gold quality
right lung	UBERON:0002167	97.33	gold quality
spleen	UBERON:0002106	96.28	gold quality
leukocyte	CL:0000738	95.74	gold quality
bone marrow	UBERON:0002371	93.21	gold quality
blood	UBERON:0000178	88.39	gold quality
bone marrow cell	CL:0002092	86.71	gold quality
upper lobe of left lung	UBERON:0008952	80.30	gold quality
placenta	UBERON:0001987	74.37	gold quality
lower esophagus mucosa	UBERON:0035834	74.25	gold quality
right lobe of liver	UBERON:0001114	69.08	gold quality
lung	UBERON:0002048	66.03	gold quality
left uterine tube	UBERON:0001303	54.42	gold quality
liver	UBERON:0002107	52.93	gold quality
omental fat pad	UBERON:0010414	51.53	gold quality
adenohypophysis	UBERON:0002196	50.94	gold quality
adipose tissue	UBERON:0001013	46.42	gold quality
heart left ventricle	UBERON:0002084	43.46	gold quality
descending thoracic aorta	UBERON:0002345	43.09	gold quality
putamen	UBERON:0001874	42.92	gold quality
right frontal lobe	UBERON:0002810	42.78	gold quality
right atrium auricular region	UBERON:0006631	42.52	gold quality
left lobe of thyroid gland	UBERON:0001120	42.49	gold quality
lymph node	UBERON:0000029	42.29	gold quality
thyroid gland	UBERON:0002046	42.28	gold quality
subcutaneous adipose tissue	UBERON:0002190	42.20	gold quality
heart	UBERON:0000948	41.15	gold quality
gastrocnemius	UBERON:0001388	39.90	gold quality
pituitary gland	UBERON:0000007	39.47	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-126	yes	4037.46
E-ANND-3	no	0.38

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

11 targeting DEFA1B, 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-651-3P	99.94	73.48	5177
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-6513-5P	99.43	67.81	1071
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-5187-5P	98.54	67.94	952
HSA-MIR-4468	98.01	66.85	1187
HSA-MIR-3670	97.88	64.39	763
HSA-MIR-6728-5P	97.79	66.33	891
HSA-MIR-4433A-3P	97.75	62.82	1435

Literature-anchored findings (GeneRIF, showing 6)

• Data show that H. pylori induces alpha-defensin release from granulocytes, which may be important in local host response to H. pylori infection in gastroduodenal diseases. (PMID:19169650)
• binding of HNP1 to affected bacterial toxins caused their local unfolding, potentiated their thermal melting and precipitation, exposed new regions for proteolysis, and increased susceptibility to collisional quenchers. (PMID:25517613)
• Inflammatory regulation of defensin alpha 1 (human neutrophil peptide 1; HNP-1) in pancreatic ductal adenocarcinoma (PDAC) tissue and cells indicates that HNP-1 may be a link between chronic inflammation and malignant transformation in the pancreas. (PMID:29683978)
• Human Neutrophil Peptide 1 directly binds and neutralizes Exotoxin A of Pseudomonas aeruginosa. (PMID:29738776)
• DEFA1B encodes an antibacterial peptide that is bacteriocidal against S. aureus, E. coli, and P. aeruginosa. (PMID:2997278)
• our findings suggest that DEFA1B and NLRP3 gene expression levels can be used as valuable biologic markers for estimation of disease activity in NBD and as potential targets for future therapeutic trials for inflammatory disorders. (PMID:31471397)

Cross-species orthologs

40 orthologs

Organism	Symbol	Gene ID
mus_musculus	Defa39	ENSMUSG00000058618
mus_musculus	Defa26	ENSMUSG00000060070
mus_musculus	Defa17	ENSMUSG00000060208
mus_musculus	Defa35	ENSMUSG00000061845
mus_musculus	Defa38	ENSMUSG00000061958
mus_musculus	Defa34	ENSMUSG00000063206
mus_musculus	Defa24	ENSMUSG00000064213
mus_musculus	Defa37	ENSMUSG00000065956
mus_musculus	Defa28	ENSMUSG00000074434
mus_musculus	Defa29	ENSMUSG00000074437
mus_musculus	Defa5	ENSMUSG00000074439
mus_musculus	Defa3	ENSMUSG00000074440
mus_musculus	Defa40	ENSMUSG00000074441
mus_musculus	Defa31	ENSMUSG00000074442
mus_musculus	Defa22	ENSMUSG00000074443
mus_musculus	Defa30	ENSMUSG00000074444
mus_musculus	Defa23	ENSMUSG00000074446
mus_musculus	Defa21	ENSMUSG00000074447
mus_musculus	Defa43	ENSMUSG00000079113
mus_musculus	Defa42	ENSMUSG00000079114
mus_musculus	Defa41	ENSMUSG00000079116
mus_musculus	AY761185	ENSMUSG00000079120
mus_musculus	Defa33	ENSMUSG00000094362
mus_musculus	Defa36	ENSMUSG00000094662
mus_musculus	Defa25	ENSMUSG00000094687
mus_musculus	Defa32	ENSMUSG00000094818
mus_musculus	Defa20	ENSMUSG00000095066
mus_musculus	Defa2	ENSMUSG00000096295
rattus_norvegicus	Np4	ENSRNOG00000028707
rattus_norvegicus	Defal1	ENSRNOG00000029462
rattus_norvegicus	Defa5	ENSRNOG00000030093
rattus_norvegicus	Defa24	ENSRNOG00000030524
rattus_norvegicus	Defa3	ENSRNOG00000038133
rattus_norvegicus	RatNP-3b	ENSRNOG00000038135
rattus_norvegicus	Defa31	ENSRNOG00000061751
rattus_norvegicus	Defa9	ENSRNOG00000068468
rattus_norvegicus	Np4	ENSRNOG00000069755
rattus_norvegicus		ENSRNOG00000078458
rattus_norvegicus	Defa8	ENSRNOG00000081022
rattus_norvegicus	Defa9	ENSRNOG00000091367

Paralogs (5): DEFA5 (ENSG00000164816), DEFA4 (ENSG00000164821), DEFA6 (ENSG00000164822), DEFA1 (ENSG00000206047), DEFA3 (ENSG00000239839)

Protein

Protein identifiers

Neutrophil defensin 1 — P59665 (reviewed: P59665)

Alternative names: Defensin, alpha 1, HNP-1

All UniProt accessions (1): P59665

UniProt curated annotations — full annotation on UniProt →

Function. Effector molecule of the innate immune system that acts via antibiotic-like properties against a broad array of infectious agents including bacteria, fungi, and viruses or by promoting the activation and maturation of some APCs. Interacts with the essential precursor of cell wall synthesis lipid II to inhibit bacterial cell wall synthesis. Inhibits adenovirus infection via inhibition of viral disassembly at the vertex region, thereby restricting the release of internal capsid protein pVI, which is required for endosomal membrane penetration during cell entry. In addition, interaction with adenovirus capsid leads to the redirection of viral particles to TLR4 thereby promoting a NLRP3-mediated inflammasome response and interleukin 1-beta (IL-1beta) release. Induces the production of proinflammatory cytokines including type I interferon (IFN) in plasmacytoid dendritic cells (pDCs) by triggering the degradation of NFKBIA and nuclear translocation of IRF1, both of which are required for activation of pDCs.

Subunit / interactions. Tetramer. Dimer. Interacts with RETN. (Microbial infection) Interacts with HIV-1 surface protein gp120. (Microbial infection) Interacts with herpes virus 1 (HHV1) envelope glycoprotein B; this interaction inhibits viral infection.

Subcellular location. Secreted.

Post-translational modifications. ADP-ribosylation drastically reduces cytotoxic and antibacterial activities, and enhances IL8 production. Phosphorylation at Tyr-85 has been found in some cancer cell lines, and interferes with ADP-ribosylation.

Similarity. Belongs to the alpha-defensin family.

RefSeq proteins (2): NP_001035965, NP_001289194 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002366	Alpha-defensin_N	Domain
IPR006080	Beta/alpha-defensin_C	Domain
IPR006081	Alpha-defensin_C	Domain
IPR016327	Alpha-defensin	Family

Pfam: PF00323, PF00879

UniProt features (15 total): disulfide bond 3, strand 3, modified residue 3, peptide 2, signal peptide 1, propeptide 1, mutagenesis site 1, chain 1

Structure

Experimental structures (PDB)

19 structures.

PDB	Method	Resolution (Å)
9FQB	X-RAY DIFFRACTION	1.09
3HJ2	X-RAY DIFFRACTION	1.4
3GNY	X-RAY DIFFRACTION	1.56
3LO2	X-RAY DIFFRACTION	1.56
3LO6	X-RAY DIFFRACTION	1.56
3LO9	X-RAY DIFFRACTION	1.56
3LOE	X-RAY DIFFRACTION	1.56
2PM1	X-RAY DIFFRACTION	1.6
3LO1	X-RAY DIFFRACTION	1.6
3H6C	X-RAY DIFFRACTION	1.63
3LVX	X-RAY DIFFRACTION	1.63
3HJD	X-RAY DIFFRACTION	1.65
4LBF	X-RAY DIFFRACTION	1.7
4LBB	X-RAY DIFFRACTION	1.72
3LO4	X-RAY DIFFRACTION	1.75
4DU0	X-RAY DIFFRACTION	1.9
4LB7	X-RAY DIFFRACTION	1.9
4LB1	X-RAY DIFFRACTION	2
2KHT	SOLID-STATE NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P59665-F1	73.61	0.23

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 (3): 78, 85, 88

Disulfide bonds (3): 73–93, 66–94, 68–83

Mutagenesis-validated functional residues (1):

Position	Phenotype
90	almost complete loss of bactericidal activity.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-1461973	Defensins
R-HSA-1462054	Alpha-defensins
R-HSA-6798695	Neutrophil degranulation

MSigDB gene sets: 76 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GOBP_CELL_CHEMOTAXIS, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOCC_SECRETORY_GRANULE, GOBP_ORGAN_OR_TISSUE_SPECIFIC_IMMUNE_RESPONSE, GOBP_LEUKOCYTE_CHEMOTAXIS, GOBP_TAXIS, GOBP_LEUKOCYTE_MIGRATION, GOBP_HORMONE_MEDIATED_SIGNALING_PATHWAY, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS, GOBP_INNATE_IMMUNE_RESPONSE_IN_MUCOSA, GOBP_RESPONSE_TO_PROTOZOAN, GOBP_HUMORAL_IMMUNE_RESPONSE

GO Biological Process (18): innate immune response in mucosa (GO:0002227), chemotaxis (GO:0006935), immune response (GO:0006955), T cell chemotaxis (GO:0010818), antibacterial humoral response (GO:0019731), estrogen receptor signaling pathway (GO:0030520), killing of cells of another organism (GO:0031640), defense response to protozoan (GO:0042832), innate immune response (GO:0045087), defense response to Gram-negative bacterium (GO:0050829), defense response to Gram-positive bacterium (GO:0050830), defense response to fungus (GO:0050832), defense response to virus (GO:0051607), disruption of plasma membrane integrity in another organism (GO:0051673), obsolete killing by host of symbiont cells (GO:0051873), antimicrobial humoral immune response mediated by antimicrobial peptide (GO:0061844), defense response (GO:0006952), defense response to bacterium (GO:0042742)

GO Molecular Function (2): pore-forming activity (GO:0140911), protein binding (GO:0005515)

GO Cellular Component (5): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), Golgi lumen (GO:0005796), azurophil granule lumen (GO:0035578), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Antimicrobial peptides	1
Defensins	1
Innate Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
defense response to bacterium	3
defense response	3
antimicrobial humoral response	2
mucosal immune response	1
innate immune response	1
response to chemical	1
taxis	1
immune system process	1
response to stimulus	1
lymphocyte chemotaxis	1
T cell migration	1
nuclear receptor-mediated steroid hormone signaling pathway	1
cell killing	1
disruption of cell in another organism	1
response to protozoan	1
defense response to other organism	1
immune response	1
defense response to symbiont	1
response to fungus	1
response to virus	1
disruption of cellular anatomical structure in another organism	1
response to stress	1
response to bacterium	1
molecular_function	1
binding	1
cellular anatomical structure	1
Golgi apparatus	1
intracellular organelle lumen	1
vacuolar lumen	1
secretory granule lumen	1
azurophil granule	1
extracellular vesicle	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

28 interactions, top by confidence:

A	B	Type	Score
SNW1	AQR	psi-mi:“MI:0914”(association)	0.650
DEFA1	UBQLN2	psi-mi:“MI:0915”(physical association)	0.560
DEFA1	MANBA	psi-mi:“MI:0914”(association)	0.530
FBXO4	AMD1	psi-mi:“MI:0914”(association)	0.530
Dynll1		psi-mi:“MI:0915”(physical association)	0.400
	LECT2	psi-mi:“MI:0915”(physical association)	0.400
ZNF16	DEFA1	psi-mi:“MI:0915”(physical association)	0.370
DEFA1	GSK3B	psi-mi:“MI:0915”(physical association)	0.370
PLB1	WDR47	psi-mi:“MI:0914”(association)	0.350
rep		psi-mi:“MI:0914”(association)	0.350
IRAK2	LTF	psi-mi:“MI:0914”(association)	0.350
ROCK2	CLTB	psi-mi:“MI:0914”(association)	0.350
TEX14	DNAJB6	psi-mi:“MI:0914”(association)	0.350
SRPK1	SNRPGP15	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
ATG16L1		psi-mi:“MI:0914”(association)	0.350
PPP2R2B	A2ML1	psi-mi:“MI:0914”(association)	0.350
ERO1A	LTF	psi-mi:“MI:0914”(association)	0.350
CCR1	UBA6	psi-mi:“MI:0914”(association)	0.350
KLK10	IGLL5	psi-mi:“MI:0914”(association)	0.350
ITGA5	ORC4	psi-mi:“MI:0914”(association)	0.350
P/V/C	KPNA3	psi-mi:“MI:0914”(association)	0.350
MYB	A2ML1	psi-mi:“MI:0914”(association)	0.350
DEFA1	UBQLN2	psi-mi:“MI:0915”(physical association)	0.000
PFDN1	DEFA1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (173): DEFA1 (Affinity Capture-MS), DEFA1B (Affinity Capture-MS), IGFBP2 (Affinity Capture-MS), PPP3CC (Affinity Capture-MS), DAK (Affinity Capture-MS), CTBS (Affinity Capture-MS), PPP3R1 (Affinity Capture-MS), LIFR (Affinity Capture-MS), SUSD1 (Affinity Capture-MS), CTSF (Affinity Capture-MS), PPP3CA (Affinity Capture-MS), ARSB (Affinity Capture-MS), FBLN1 (Affinity Capture-MS), PXDN (Affinity Capture-MS), TMEM2 (Affinity Capture-MS)

ESM2 similar proteins: A0A2I6EDM5, A0A3G3C7S6, A1Z0M0, A6YB85, B2KJ30, D2Y2M4, D2Y2N3, D6C4K9, D6C4L2, P0CB11, P0DUJ6, P18512, P18513, P28312, P50705, P50708, P50714, P56714, P59665, P59666, P60030, P60031, P60032, P61516, P69751, P69754, P82106, P82951, Q01524, Q3L180, Q4JEI2, Q5G860, Q5G863, Q5G864, Q7T273, Q801Y3, Q80T19, Q99MH3, Q9BP89, Q9BP99

Diamond homologs: A6YB85, B6ULW4, B6ULW5, B6ULW7, P01376, P01377, P07466, P07467, P07469, P0C8A2, P11477, P11478, P12838, P28309, P28310, P28311, P28312, P49112, P50704, P50705, P50707, P50708, P50709, P50711, P50712, P50713, P50714, P59665, P59666, P60030, P60031, P60032, P81465, P81467, P82270, P82271, P82319, P82320, Q01523, Q01524

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

296 predictions. Top by Δscore:

Variant	Effect	Δscore
8:6997571:TCTCA:T	donor_loss	1.0000
8:6997572:CTCA:C	donor_loss	1.0000
8:6997573:TCA:T	donor_loss	1.0000
8:6997574:CA:C	donor_loss	1.0000
8:6997576:C:CA	donor_loss	1.0000
8:6997627:T:TA	donor_gain	0.9900
8:6997763:CCTGG:C	acceptor_loss	0.9900
8:6997764:CT:C	acceptor_loss	0.9900
8:6997765:T:C	acceptor_loss	0.9900
8:6998123:T:TA	donor_gain	0.9900
8:6998127:A:AC	donor_gain	0.9900
8:6999121:A:AC	donor_gain	0.9900
8:6999122:C:CC	donor_gain	0.9900
8:6999122:CAGAT:C	donor_gain	0.9900
8:6997003:C:CT	acceptor_gain	0.9800
8:6997004:A:T	acceptor_gain	0.9800
8:6997620:A:AT	donor_gain	0.9800
8:6997622:C:CT	donor_gain	0.9800
8:6997761:CAC:C	acceptor_gain	0.9800
8:6998128:T:C	donor_gain	0.9800
8:6999117:ACTT:A	donor_loss	0.9800
8:6999118:CTT:C	donor_loss	0.9800
8:6999119:TTA:T	donor_loss	0.9800
8:6999120:TA:T	donor_loss	0.9800
8:6999122:CA:C	donor_gain	0.9800
8:6999122:CAG:C	donor_gain	0.9800
8:6999122:CAGA:C	donor_gain	0.9800
8:6996997:C:CC	acceptor_gain	0.9700
8:6997012:C:CT	acceptor_gain	0.9700
8:6997013:A:C	acceptor_gain	0.9700

AlphaMissense

598 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:6996930:C:T	G81E	0.988
8:6996902:C:A	W90C	0.987
8:6996902:C:G	W90C	0.987
8:6996969:C:G	C68S	0.987
8:6996970:A:T	C68S	0.987
8:6996954:C:T	C73Y	0.986
8:6996930:C:A	G81V	0.985
8:6996954:C:G	C73S	0.985
8:6996955:A:T	C73S	0.985
8:6996894:C:T	C93Y	0.984
8:6996969:C:T	C68Y	0.984
8:6996924:C:T	C83Y	0.982
8:6996924:C:G	C83S	0.981
8:6996925:A:T	C83S	0.981
8:6996890:G:C	C94W	0.980
8:6996893:G:C	C93W	0.980
8:6996894:C:G	C93S	0.980
8:6996895:A:T	C93S	0.980
8:6996955:A:G	C73R	0.980
8:6996975:C:G	C66S	0.980
8:6996976:A:T	C66S	0.980
8:6996975:C:T	C66Y	0.979
8:6996953:G:C	C73W	0.978
8:6996891:C:T	C94Y	0.977
8:6996925:A:G	C83R	0.977
8:6996942:T:A	E77V	0.977
8:6996895:A:G	C93R	0.976
8:6996965:T:A	R69S	0.975
8:6996965:T:G	R69S	0.975
8:6996976:A:G	C66R	0.975

dbSNP variants (sampled 300 via entrez): RS1033087927 (8:6998835 C>T), RS1053058340 (8:6999541 C>A,T), RS113548638 (8:6998422 A>C), RS113591177 (8:6998471 C>T), RS1156661612 (8:6999359 A>C), RS1157215889 (8:6999744 C>A,G,T), RS1158083342 (8:7000161 G>A,C), RS1158590911 (8:6999406 A>G), RS1158910843 (8:6998690 A>T), RS1163879373 (8:6999180 G>C), RS1164108830 (8:6999657 C>T), RS1164147027 (8:6999581 G>A), RS1166193675 (8:6999853 C>T), RS1166330361 (8:6998602 T>C), RS1167585411 (8:6996273 A>C,G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST009269_9	Dental caries (decayed and filled deciduous teeth)	5.000000e-06
GCST90002379_108	Basophil count	4.000000e-09
GCST90002379_109	Basophil count	5.000000e-09
GCST90002380_53	Basophil percentage of white cells	3.000000e-15
GCST90002380_54	Basophil percentage of white cells	6.000000e-09
GCST90002393_558	Monocyte count	2.000000e-14
GCST90002394_316	Monocyte percentage of white cells	3.000000e-21
GCST90002394_317	Monocyte percentage of white cells	6.000000e-11

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0005090	basophil count
EFO:0007992	basophil percentage of leukocytes
EFO:0005091	monocyte count
EFO:0007989	monocyte percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3885531 (PROTEIN-PROTEIN INTERACTION)

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

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
fluorene-9-bisphenol	decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	increases methylation	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3820562	Binding	Inhibition of CCL5 (unknown origin)-HNP1 (unknown origin) interaction in HUVEC assessed as reduction in CCL5-HNP1-driven human monocyte adhesion at 100 ug/ml pre-incubated for 5 mins before human monocyte addition	Structure-Based Design of Peptidic Inhibitors of the Interaction between CC Chemokine Ligand 5 (CCL5) and Human Neutrophil Peptides 1 (HNP1). — J Med Chem

Clinical trials (associated diseases)

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