EHD4

Summary

EHD4 (EH domain containing 4, HGNC:3245) is a protein-coding gene on chromosome 15q15.1, encoding EH domain-containing protein 4 (Q9H223). ATP- and membrane-binding protein that probably controls membrane reorganization/tubulation upon ATP hydrolysis.

Enables cadherin binding activity. Involved in endocytic recycling and protein homooligomerization. Located in endoplasmic reticulum and recycling endosome membrane.

Source: NCBI Gene 30844 — RefSeq curated summary.

At a glance

• GWAS associations: 34
• Clinical variants (ClinVar): 95 total
• MANE Select transcript: NM_139265

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3245
Approved symbol	EHD4
Name	EH domain containing 4
Location	15q15.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000103966
Ensembl biotype	protein_coding
OMIM	605892
Entrez	30844

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 retained_intron

ENST00000220325, ENST00000569223, ENST00000857506, ENST00000857507, ENST00000926747, ENST00000952466, ENST00000952467

RefSeq mRNA: 1 — MANE Select: NM_139265 NM_139265

CCDS: CCDS10081

Canonical transcript exons

ENST00000220325 — 6 exons

Exon	Start	End
ENSE00000391391	41895933	41901181
ENSE00000677684	41909699	41909863
ENSE00000677777	41943067	41943164
ENSE00001107320	41972259	41972557
ENSE00001277799	41919210	41919622
ENSE00003684419	41953764	41953940

Expression profiles

Bgee: expression breadth ubiquitous, 281 present calls, max score 95.04.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.3531 / max 188.1324, expressed in 1778 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
149539	20.3531	1778

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
heart right ventricle	UBERON:0002080	95.04	gold quality
synovial joint	UBERON:0002217	94.19	gold quality
buccal mucosa cell	CL:0002336	94.08	gold quality
pericardium	UBERON:0002407	93.83	gold quality
mucosa of sigmoid colon	UBERON:0004993	93.80	gold quality
colonic mucosa	UBERON:0000317	93.49	gold quality
mucosa of urinary bladder	UBERON:0001259	93.37	gold quality
layer of synovial tissue	UBERON:0007616	92.50	gold quality
olfactory bulb	UBERON:0002264	92.34	silver quality
epithelium of bronchus	UBERON:0002031	92.17	gold quality
bronchial epithelial cell	CL:0002328	92.07	gold quality
bronchus	UBERON:0002185	92.06	gold quality
penis	UBERON:0000989	91.63	gold quality
vena cava	UBERON:0004087	91.62	gold quality
lower lobe of lung	UBERON:0008949	91.62	gold quality
urethra	UBERON:0000057	91.13	gold quality
corpus epididymis	UBERON:0004359	90.93	gold quality
oviduct epithelium	UBERON:0004804	90.65	gold quality
seminal vesicle	UBERON:0000998	90.61	gold quality
amniotic fluid	UBERON:0000173	90.20	gold quality
mammary duct	UBERON:0001765	90.17	gold quality
superficial temporal artery	UBERON:0001614	90.03	gold quality
nipple	UBERON:0002030	90.00	gold quality
pharyngeal mucosa	UBERON:0000355	89.98	gold quality
left ventricle myocardium	UBERON:0006566	89.87	gold quality
cardiac ventricle	UBERON:0002082	89.83	gold quality
heart left ventricle	UBERON:0002084	89.67	gold quality
type B pancreatic cell	CL:0000169	89.54	silver quality
apex of heart	UBERON:0002098	89.49	gold quality
epithelium of esophagus	UBERON:0001976	89.48	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	45.99
E-HCAD-11	yes	41.72
E-GEOD-135922	yes	35.58
E-MTAB-5061	yes	6.12
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

55 targeting EHD4, 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-9-5P	100.00	72.28	2361
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-1283	99.69	72.42	3009
HSA-MIR-5004-5P	99.68	66.63	1294
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-4452	99.50	68.45	1493
HSA-MIR-6727-3P	99.49	65.92	1333
HSA-MIR-3612	99.45	66.02	1333
HSA-MIR-650	99.45	65.77	1309
HSA-MIR-942-5P	99.41	68.40	1977
HSA-MIR-4722-3P	99.35	65.22	1099
HSA-MIR-130A-5P	99.33	70.26	2623
HSA-MIR-1206	99.30	69.32	1016

Literature-anchored findings (GeneRIF, showing 8)

• EHD4 is involved in the control of trafficking at the early endosome and regulates exit of cargo toward both the recycling compartment and the late endocytic pathway. (PMID:18331452)
• A new class of cardiac trafficking proteins(EHD1, EHD2, EHD3, EHD4) regulates cardiac membrane protein targeting. (PMID:20489164)
• Retrograde signaling through Pincher-generated Trk-multivesicular bodies is distinctively refractory to signal termination by lysosomal processing (PMID:21187387)
• Ezrin and EHD4 appear to be involved in the ability of Nef to increase hiv-1 virus infectivity. (PMID:23325686)
• evidence that the functions of both EHD1 and EHD4 are primarily in TRE membrane vesiculation, whereas EHD3 is a membrane-tubulating protein. (PMID:24019528)
• Identification of phostensin in association with Eps 15 homology domain-containing protein 1 (EHD1) and EHD4. (PMID:32800345)
• Eps15 Homology Domain Protein 4 (EHD4) is required for Eps15 Homology Domain Protein 1 (EHD1)-mediated endosomal recruitment and fission. (PMID:32966336)
• A junctional PACSIN2/EHD4/MICAL-L1 complex coordinates VE-cadherin trafficking for endothelial migration and angiogenesis. (PMID:33972531)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ehd4	ENSDARG00000054302
mus_musculus	Ehd4	ENSMUSG00000027293
rattus_norvegicus	Ehd4	ENSRNOG00000007584

Paralogs (10): EHD3 (ENSG00000013016), EHD2 (ENSG00000024422), EPS15 (ENSG00000085832), EHD1 (ENSG00000110047), EPS15L1 (ENSG00000127527), REPS1 (ENSG00000135597), REPS2 (ENSG00000169891), SRL (ENSG00000185739), ITSN2 (ENSG00000198399), ITSN1 (ENSG00000205726)

Protein

Protein identifiers

EH domain-containing protein 4 — Q9H223 (reviewed: Q9H223)

Alternative names: Hepatocellular carcinoma-associated protein 10/11, PAST homolog 4

All UniProt accessions (1): Q9H223

UniProt curated annotations — full annotation on UniProt →

Function. ATP- and membrane-binding protein that probably controls membrane reorganization/tubulation upon ATP hydrolysis. Plays a role in early endosomal transport. During sprouting angiogenesis, in complex with PACSIN2 and MICALL1, forms recycling endosome-like tubular structure at asymmetric adherens junctions to control CDH5 trafficking.

Subunit / interactions. Homooligomer, and heterooligomer with EHD1, EHD2 and EHD3. Forms a complex with EHD4 and MICALL1; the complex controls CDH5 trafficking and coordinates angiogenesis.

Subcellular location. Early endosome membrane. Recycling endosome membrane. Cell membrane. Cell junction. Adherens junction.

Tissue specificity. Highly expressed in pancreas and heart.

Domain organisation. The EH domain interacts with Asn-Pro-Phe (NPF) motifs of target proteins.

Similarity. Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. EHD subfamily.

RefSeq proteins (1): NP_644670* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000261	EH_dom	Domain
IPR002048	EF_hand_dom	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR018247	EF_Hand_1_Ca_BS	Binding_site
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR030381	G_DYNAMIN_dom	Domain
IPR031692	EHD_N	Domain
IPR040990	DUF5600	Domain
IPR045063	Dynamin_N	Domain

Pfam: PF00350, PF12763, PF16880, PF18150

UniProt features (25 total): binding site 8, region of interest 5, modified residue 4, domain 3, sequence conflict 3, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H223-F1	88.19	0.66

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (8): 223; 261; 492; 494; 496; 498; 503; 68–75

Post-translational modifications (4): 1, 162, 451, 459

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 331 (showing top): GOBP_PINOCYTOSIS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_CELL_MIGRATION_INVOLVED_IN_SPROUTING_ANGIOGENESIS, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, TAL1ALPHAE47_01, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_BLOOD_VESSEL_ENDOTHELIAL_CELL_MIGRATION, GOBP_SPROUTING_ANGIOGENESIS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM3, BRN2_01, GROSS_HYPOXIA_VIA_ELK3_UP, GOBP_CILIUM_ORGANIZATION

GO Biological Process (9): cell migration involved in sprouting angiogenesis (GO:0002042), endocytosis (GO:0006897), pinocytosis (GO:0006907), regulation of endocytosis (GO:0030100), endocytic recycling (GO:0032456), protein homooligomerization (GO:0051260), cilium assembly (GO:0060271), cellular response to growth factor stimulus (GO:0071363), protein localization to plasma membrane (GO:0072659)

GO Molecular Function (9): nucleic acid binding (GO:0003676), calcium ion binding (GO:0005509), ATP binding (GO:0005524), GTP binding (GO:0005525), protein-macromolecule adaptor activity (GO:0030674), cadherin binding (GO:0045296), nucleotide binding (GO:0000166), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (14): nucleus (GO:0005634), cytoplasm (GO:0005737), early endosome (GO:0005769), endoplasmic reticulum (GO:0005783), plasma membrane (GO:0005886), adherens junction (GO:0005912), membrane (GO:0016020), endocytic vesicle (GO:0030139), early endosome membrane (GO:0031901), perinuclear region of cytoplasm (GO:0048471), recycling endosome membrane (GO:0055038), extracellular exosome (GO:0070062), endosome (GO:0005768), anchoring junction (GO:0070161)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
endocytosis	2
binding	2
purine ribonucleoside triphosphate binding	2
intracellular membrane-bounded organelle	2
cytoplasm	2
endomembrane system	2
cytoplasmic vesicle	2
endosome membrane	2
sprouting angiogenesis	1
blood vessel endothelial cell migration	1
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
regulation of cellular component organization	1
regulation of vesicle-mediated transport	1
endosomal transport	1
vesicle-mediated transport to the plasma membrane	1
protein complex oligomerization	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
response to growth factor	1
cellular response to endogenous stimulus	1
protein localization to membrane	1
protein localization to cell periphery	1
metal ion binding	1
adenyl ribonucleotide binding	1
guanyl ribonucleotide binding	1
protein binding	1
molecular adaptor activity	1
cell adhesion molecule binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1

Protein interactions and networks

STRING

840 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EHD4	RBSN	Q9H1K0	694
EHD4	NUMB	P49757	634
EHD4	NUMBL	Q9Y6R0	632
EHD4	EHBP1	Q8NDI1	626
EHD4	PACSIN1	Q9BY11	546
EHD4	SNAP29	O95721	528
EHD4	MICALL1	Q8N3F8	520
EHD4	RAB11FIP2	Q7L804	505
EHD4	CDH23	Q9H251	490
EHD4	PACSIN2	Q9UNF0	472
EHD4	SNAP25	P13795	466
EHD4	EPS15	P42566	456
EHD4	ARF6	P26438	447
EHD4	SLCO6A1	Q86UG4	440
EHD4	RAB11A	P24410	436

IntAct

93 interactions, top by confidence:

A	B	Type	Score
EXOC8	EXOC5	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
GOLM1	EGFR	psi-mi:“MI:0914”(association)	0.640
EHD2	EHD4	psi-mi:“MI:0914”(association)	0.640
MICALL1	EHD4	psi-mi:“MI:0915”(physical association)	0.560
PCDHB16	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
FAM174A	BLTP3B	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
ANK2	EHD4	psi-mi:“MI:0915”(physical association)	0.400
	GNAT3	psi-mi:“MI:0915”(physical association)	0.400
AFP	EHD4	psi-mi:“MI:0915”(physical association)	0.370
RASGRF1	EHD4	psi-mi:“MI:0915”(physical association)	0.370
CLTC		psi-mi:“MI:0914”(association)	0.350
GOLM1	RAB19	psi-mi:“MI:0914”(association)	0.350
PPP1CA	ACO2	psi-mi:“MI:0914”(association)	0.350
EHD4	DNAJA2	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
POC5	CEP290	psi-mi:“MI:0914”(association)	0.350
POC5	CSTA	psi-mi:“MI:0914”(association)	0.350
POC5	DSC2	psi-mi:“MI:0914”(association)	0.350
VWA5A	PIPSL	psi-mi:“MI:0914”(association)	0.350
TPCN2	DDX11L8	psi-mi:“MI:0914”(association)	0.350
NTRK3	FAM171A2	psi-mi:“MI:0914”(association)	0.350
TMEM52B	PIK3R2	psi-mi:“MI:0914”(association)	0.350
OLFM3	AGRN	psi-mi:“MI:0914”(association)	0.350

BioGRID (163): EHD4 (Affinity Capture-MS), EHD4 (Affinity Capture-MS), EHD4 (Affinity Capture-MS), EHD4 (Affinity Capture-MS), EHD4 (Affinity Capture-MS), EHD4 (Affinity Capture-MS), EHD4 (Affinity Capture-MS), DDOST (Co-fractionation), EHD4 (Co-fractionation), UQCRC2 (Co-fractionation), WARS (Co-fractionation), EHD4 (Affinity Capture-MS), EHD4 (Affinity Capture-MS), EHD4 (Affinity Capture-MS), EHD4 (Affinity Capture-MS)

ESM2 similar proteins: A0A060LAL9, A0A097ZPE6, A0A1I9R3Y5, A2VEI2, A2XVG1, A2YGP6, A4IFE9, A8B479, A8WQT4, B3H7A9, F4I1L3, G1JSL4, O15321, O22585, O22788, O45228, O64407, O65015, O81270, P10538, P31252, P58021, P80363, Q28C60, Q43727, Q5R8F1, Q5R8Y6, Q5Z8Y4, Q623S8, Q66HF2, Q66HG5, Q6DCK1, Q7FAX1, Q7JW12, Q8CD10, Q8IYU8, Q95PZ2, Q99805, Q99P63, Q9CAB7

Diamond homologs: A1CD74, A1CPG1, A1D2B8, A1DC51, A1DDY6, A2QRG2, A2R180, A3LN86, A3M008, A4R8N4, A5DF78, A5DP36, A5DVD6, A5DXI9, A6R7X5, A6RFP4, A6S9N4, A6SIJ6, A7E7N7, A7EKZ0, B0XR88, B0YC95, B2AS96, B2AWS3, L7IIY8, O42287, O54916, O94685, P0CT09, P32521, P42566, P42567, Q0CPW4, Q0D0N9, Q1DQC1, Q1DUU2, Q2H2V8, Q2H922, Q2UCH0, Q2UDY8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 122 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
endocytosis	9	8.1×	8e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	82
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1147 predictions. Top by Δscore:

Variant	Effect	Δscore
15:41900668:T:TA	donor_gain	1.0000
15:41900669:C:A	donor_gain	1.0000
15:41900719:AG:A	donor_gain	1.0000
15:41901179:TTCCT:T	acceptor_loss	1.0000
15:41901182:C:CC	acceptor_gain	1.0000
15:41901182:CTGC:C	acceptor_loss	1.0000
15:41919204:GCTTA:G	donor_loss	1.0000
15:41919205:CTTA:C	donor_loss	1.0000
15:41919206:TTACC:T	donor_loss	1.0000
15:41919207:TACCT:T	donor_loss	1.0000
15:41919208:A:C	donor_loss	1.0000
15:41919621:GCC:G	acceptor_loss	1.0000
15:41919623:CTG:C	acceptor_loss	1.0000
15:41943063:TGACC:T	donor_loss	1.0000
15:41943064:GACCT:G	donor_loss	1.0000
15:41943065:ACCTC:A	donor_loss	1.0000
15:41943066:C:CG	donor_loss	1.0000
15:41953759:CTTA:C	donor_loss	1.0000
15:41953761:TACC:T	donor_loss	1.0000
15:41953762:A:AC	donor_gain	1.0000
15:41953763:C:CC	donor_gain	1.0000
15:41953936:GGTAT:G	acceptor_gain	1.0000
15:41953937:GTAT:G	acceptor_gain	1.0000
15:41953938:TAT:T	acceptor_gain	1.0000
15:41953939:AT:A	acceptor_gain	1.0000
15:41953940:TC:T	acceptor_loss	1.0000
15:41953941:C:CC	acceptor_gain	1.0000
15:41972254:GGTAC:G	donor_loss	1.0000
15:41972255:GTACC:G	donor_loss	1.0000
15:41972256:TACCT:T	donor_loss	1.0000

AlphaMissense

3579 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:41900742:A:G	L510P	1.000
15:41900947:A:G	W442R	1.000
15:41900947:A:T	W442R	1.000
15:41909838:A:G	L317P	1.000
15:41919413:A:G	W241R	1.000
15:41919413:A:T	W241R	1.000
15:41919418:A:G	L239P	1.000
15:41919439:A:G	L232P	1.000
15:41919465:C:A	K223N	1.000
15:41919465:C:G	K223N	1.000
15:41919472:A:G	L221P	1.000
15:41943102:C:T	G159D	1.000
15:41943103:C:G	G159R	1.000
15:41943107:G:C	S157R	1.000
15:41943107:G:T	S157R	1.000
15:41943109:T:G	S157R	1.000
15:41953836:C:T	G114E	1.000
15:41953837:C:A	G114W	1.000
15:41953893:G:T	P95H	1.000
15:41972271:G:A	T75I	1.000
15:41972277:C:T	G73D	1.000
15:41972282:G:C	S71R	1.000
15:41972282:G:T	S71R	1.000
15:41972284:T:G	S71R	1.000
15:41972287:A:G	Y70H	1.000
15:41972301:A:G	L65P	1.000
15:41900752:C:G	A507P	0.999
15:41900754:A:G	L506P	0.999
15:41900775:A:G	L499P	0.999
15:41900775:A:T	L499H	0.999

dbSNP variants (sampled 300 via entrez): RS1000056529 (15:41935194 C>G), RS1000065345 (15:41973469 C>T), RS1000096670 (15:41968940 C>T), RS1000111594 (15:41930824 C>G), RS1000121536 (15:41930596 C>T), RS1000122623 (15:41906219 AC>A), RS1000148727 (15:41927807 A>T), RS1000157414 (15:41912560 T>C), RS1000204617 (15:41956182 C>T), RS1000282949 (15:41966566 A>T), RS1000297481 (15:41929578 G>A), RS1000314636 (15:41912844 T>C), RS1000338921 (15:41923640 T>G), RS1000339626 (15:41904264 G>C), RS1000357650 (15:41917836 A>C,G)

Disease associations

OMIM: gene MIM:605892 | disease phenotypes: MIM:189800

GenCC curated gene-disease

Mondo (1): preeclampsia (MONDO:0005081)

Orphanet (1): Preeclampsia (Orphanet:275555)

HPO phenotypes

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

GWAS associations

34 associations (top):

Study	Trait	p-value
GCST004603_231	Platelet count	6.000000e-09
GCST004610_141	White blood cell count	4.000000e-16
GCST004613_41	Sum neutrophil eosinophil counts	1.000000e-16
GCST004613_46	Sum neutrophil eosinophil counts	1.000000e-17
GCST004614_19	Granulocyte count	8.000000e-18
GCST004614_20	Granulocyte count	2.000000e-16
GCST004620_89	Sum basophil neutrophil counts	2.000000e-15
GCST004620_94	Sum basophil neutrophil counts	3.000000e-17
GCST004625_148	Monocyte count	1.000000e-16
GCST004625_149	Monocyte count	1.000000e-28
GCST004626_130	Myeloid white cell count	2.000000e-19
GCST004626_131	Myeloid white cell count	3.000000e-19
GCST004629_140	Neutrophil count	4.000000e-17
GCST004629_141	Neutrophil count	8.000000e-16
GCST004632_44	Lymphocyte percentage of white cells	7.000000e-12
GCST005977_14	Monocyte count	4.000000e-08
GCST006979_1018	Heel bone mineral density	8.000000e-11
GCST009028_38	Adverse response to drug	2.000000e-07
GCST90002385_43	High light scatter reticulocyte count	2.000000e-11
GCST90002386_592	High light scatter reticulocyte percentage of red cells	7.000000e-14
GCST90002389_296	Lymphocyte percentage of white cells	3.000000e-24
GCST90002389_297	Lymphocyte percentage of white cells	1.000000e-09
GCST90002393_602	Monocyte count	6.000000e-23
GCST90002393_603	Monocyte count	2.000000e-40
GCST90002394_488	Monocyte percentage of white cells	1.000000e-12
GCST90002398_281	Neutrophil count	9.000000e-19
GCST90002398_282	Neutrophil count	3.000000e-25
GCST90002399_362	Neutrophil percentage of white cells	5.000000e-17
GCST90002400_154	Plateletcrit	1.000000e-11
GCST90002402_159	Platelet count	8.000000e-12

EFO canonical traits (13, from GWAS)

EFO ID	Trait name
EFO:0004309	platelet count
EFO:0004833	neutrophil count
EFO:0004842	eosinophil count
EFO:0007987	granulocyte count
EFO:0005090	basophil count
EFO:0005091	monocyte count
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0009270	heel bone mineral density
EFO:0009658	adverse effect
EFO:0007986	reticulocyte count
EFO:0007989	monocyte percentage of leukocytes
EFO:0007990	neutrophil percentage of leukocytes
EFO:0007985	platelet crit

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D011225	Pre-Eclampsia	C12.050.703.395.249

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, increases methylation	8
bisphenol A	decreases methylation, increases expression	3
Tetrachlorodibenzodioxin	increases expression	3
Tobacco Smoke Pollution	increases expression, affects expression, decreases methylation	3
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	2
Nickel	increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Smoke	decreases expression	2
Cyclosporine	increases expression	2
aristolochic acid I	increases expression	1
FR900359	decreases phosphorylation	1
methylmercuric chloride	decreases expression	1
glycidyl methacrylate	increases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, increases expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	increases expression	1
perfluorooctanoic acid	increases expression	1
ochratoxin A	decreases expression	1
bleomycetin	increases expression	1
coumarin	increases phosphorylation	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
entinostat	increases expression	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	increases expression	1
LDN 193189	affects cotreatment, decreases expression	1
Temozolomide	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00117546	PHASE4	UNKNOWN	Cardiovascular and Autonomic Reactivity in Women With a History of Pre-eclampsia
NCT00567957	PHASE4	UNKNOWN	Remifentanil for General Anesthesia in Preeclamptics
NCT01030627	PHASE4	COMPLETED	Treatment Approaches to Preeclampsia
NCT01352234	PHASE4	COMPLETED	Comparison of Doses of Acetylsalicylic Acid in Women With Previous History of Preeclampsia
NCT01361425	PHASE4	UNKNOWN	Anti-Hypertensive Treatment In Stable Pregnant Women With Severe Pre-Eclampsia (Metildopape)
NCT01729468	PHASE4	COMPLETED	Prevention of Pre-eclampsia and SGA by Low-Dose Aspirin in Nulliparous Women With Abnormal First-trimester Uterine Artery Dopplers
NCT01761916	PHASE4	COMPLETED	Clonidine Versus Captopril for Treatment of Postpartum Very High Blood Pressure
NCT01912677	PHASE4	COMPLETED	Oral Antihypertensive Regimens for Management of Hypertension in Pregnancy
NCT02025426	PHASE4	TERMINATED	Phenylephrine Versus Ephedrine in Pre-eclampsia
NCT02091401	PHASE4	COMPLETED	A Trial Comparing Treatment With the Springfusor Infusion Pump to the IV Magnesium Sulfate Regimen
NCT02163655	PHASE4	COMPLETED	Diuretics for Postpartum High Blood Pressure in Preeclampsia
NCT02338687	PHASE4	COMPLETED	Low Dose Calcium to Prevent Preeclampsia
NCT02396030	PHASE4	TERMINATED	Different Schemes of Magnesium Sulfate for Preeclampsia
NCT02531490	PHASE4	UNKNOWN	Early Vascular Adjustments During Hypertensive Pregnancy
NCT02699827	PHASE4	COMPLETED	Adding MgSO4 to Epidural Levobupivacaine in CS for Patients With Preeclampsia
NCT02835339	PHASE4	COMPLETED	Magnesium Sulfate in Obese Preeclamptics
NCT02891174	PHASE4	COMPLETED	The Effect of Ibuprofen on Post-partum Blood Pressure in Women With Hypertensive Disorders of Pregnancy
NCT02911701	PHASE4	COMPLETED	Effect of Acetaminophen on Postpartum Blood Pressure Control in Preeclampsia With Severe Features
NCT03171480	PHASE4	COMPLETED	Use of Nitrous Oxide Donor for Labor Induction in Women With PreEclampsia
NCT03233880	PHASE4	UNKNOWN	Impact of Antichlamydial Treatment on the Rate of Preeclampsia
NCT03237000	PHASE4	UNKNOWN	Effect of Administering Intravenous Magnesium Sulfate on Fetal Cardiotocography and Neonatal Outcome in Preeclamptic Patients
NCT03506724	PHASE4	COMPLETED	Response to Anti-hypertensives in Pregnant and Postpartum Patients
NCT03674606	PHASE4	COMPLETED	Trial of Early Screening Test for Pre-eclampsia and Growth Restriction
NCT03735433	PHASE4	TERMINATED	The Effect of Two Aspirin Dosing Strategies for Obese Women at High Risk for Preeclampsia
NCT03824119	PHASE4	UNKNOWN	Postpartum NSAIDS and Maternal Hypertension
NCT04051567	PHASE4	UNKNOWN	Low-dose Aspirin for Prevention of Adverse Pregnancy Outcomes in Twin Pregnancies
NCT04077853	PHASE4	COMPLETED	Progesterone in Expectantly Managed Early-onset Preeclampsia
NCT04158830	PHASE4	WITHDRAWN	Aspirin (ASA) Therapy and Preeclampsia Prevention
NCT04424693	PHASE4	UNKNOWN	Comparing the Incidence of Preeclampsia Between Pregnant Women Receiving Tdap Vaccinations at Week 28 or at Week 36
NCT04631627	PHASE4	UNKNOWN	Early Prediction and Randomised Prevention of Preeclampsia With Low Dose Aspirin in Chinese Cohort
NCT04656665	PHASE4	UNKNOWN	The Effectiveness of Aspirin on Preventing Pre-eclampsia
NCT04797949	PHASE4	WITHDRAWN	Adherence to Universal Aspirin Compared to Screening Indicated Aspirin for Prevention of Preeclampsia
NCT04908982	PHASE4	UNKNOWN	Aspirin for the Prevention of Preeclampsia in Women With Stage 1 Hypertension
NCT05221164	PHASE4	UNKNOWN	162 mg of Aspirin for Prevention of Preeclampsia
NCT05294952	PHASE4	UNKNOWN	co Ihibtory Receptor in Preeclampsia
NCT05514847	PHASE4	ACTIVE_NOT_RECRUITING	Low Dose Aspirin for Preterm Preeclampsia Preventionmg/day Dose in High-risk Patients
NCT05586373	PHASE4	COMPLETED	Ibuprofen vs Dipyrone After C-section in Preeclampsia
NCT06069102	PHASE4	COMPLETED	Optimal Blood Pressure Treatment Thresholds Postpartum
NCT06107335	PHASE4	NOT_YET_RECRUITING	Effect of Albumin Versus Routine Care on Hemodynamic Response and Stability in Patients With Preeclampsia Guided by a Non-invasive Hemodynamic Monitoring System During Cesarean Delivery With Spinal Anesthesia
NCT06281665	PHASE4	RECRUITING	Treatment With Aspirin After Preeclampsia: TAP Trial