MYO1D

Summary

MYO1D (myosin ID, HGNC:7598) is a protein-coding gene on chromosome 17q11.2, encoding Unconventional myosin-Id (O94832). Unconventional myosin that functions as actin-based motor protein with ATPase activity.

Enables protein domain specific binding activity. Predicted to be involved in several processes, including actin filament organization; actin filament-based movement; and early endosome to recycling endosome transport. Located in extracellular exosome.

Source: NCBI Gene 4642 — RefSeq curated summary.

At a glance

• GWAS associations: 23
• Clinical variants (ClinVar): 174 total
• MANE Select transcript: NM_015194

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7598
Approved symbol	MYO1D
Name	myosin ID
Location	17q11.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0727, myr4, PPP1R108
Ensembl gene	ENSG00000176658
Ensembl biotype	protein_coding
OMIM	606539
Entrez	4642

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 14 protein_coding, 7 protein_coding_CDS_not_defined, 3 retained_intron, 1 nonsense_mediated_decay, 1 TEC

ENST00000318217, ENST00000394649, ENST00000577252, ENST00000577352, ENST00000577576, ENST00000579584, ENST00000580538, ENST00000580547, ENST00000581059, ENST00000582217, ENST00000582751, ENST00000583611, ENST00000583621, ENST00000584232, ENST00000585094, ENST00000623444, ENST00000889847, ENST00000889848, ENST00000889849, ENST00000889850, ENST00000889851, ENST00000889852, ENST00000889853, ENST00000889854, ENST00000889855, ENST00000889856

RefSeq mRNA: 4 — MANE Select: NM_015194 NM_001303279, NM_001303280, NM_001411088, NM_015194

CCDS: CCDS32615, CCDS76991, CCDS76992, CCDS92288

Canonical transcript exons

ENST00000318217 — 22 exons

Exon	Start	End
ENSE00002282243	32492522	32494915
ENSE00002751901	32721023	32721189
ENSE00002794329	32760290	32760404
ENSE00002809996	32760482	32760627
ENSE00002811912	32778480	32778573
ENSE00002817311	32775864	32776029
ENSE00002825601	32764878	32765081
ENSE00002847893	32767636	32767752
ENSE00002898086	32772789	32772842
ENSE00002949877	32771125	32771220
ENSE00003465892	32638722	32638835
ENSE00003466304	32654477	32654621
ENSE00003512742	32659115	32659338
ENSE00003524677	32738253	32738385
ENSE00003542337	32653843	32653947
ENSE00003544706	32755492	32755662
ENSE00003554066	32605087	32605241
ENSE00003574603	32745211	32745285
ENSE00003595686	32711988	32712195
ENSE00003610589	32780576	32780784
ENSE00003665507	32748936	32749006
ENSE00003848488	32876778	32877124

Expression profiles

Bgee: expression breadth ubiquitous, 258 present calls, max score 98.64.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.1481 / max 172.4009, expressed in 1660 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165263	16.8964	1656
165264	0.2395	101
165259	0.0123	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ascending aorta	UBERON:0001496	98.64	gold quality
thoracic aorta	UBERON:0001515	98.64	gold quality
right coronary artery	UBERON:0001625	98.60	gold quality
descending thoracic aorta	UBERON:0002345	98.48	gold quality
aorta	UBERON:0000947	98.40	gold quality
calcaneal tendon	UBERON:0003701	98.28	gold quality
popliteal artery	UBERON:0002250	98.25	gold quality
tibial artery	UBERON:0007610	98.25	gold quality
rectum	UBERON:0001052	98.22	gold quality
mucosa of transverse colon	UBERON:0004991	97.74	gold quality
islet of Langerhans	UBERON:0000006	97.68	gold quality
left coronary artery	UBERON:0001626	97.02	gold quality
coronary artery	UBERON:0001621	96.89	gold quality
saphenous vein	UBERON:0007318	96.17	gold quality
blood vessel layer	UBERON:0004797	95.54	gold quality
colonic mucosa	UBERON:0000317	94.85	gold quality
transverse colon	UBERON:0001157	94.22	gold quality
colonic epithelium	UBERON:0000397	94.21	gold quality
jejunal mucosa	UBERON:0000399	94.17	gold quality
mucosa of sigmoid colon	UBERON:0004993	94.10	gold quality
gall bladder	UBERON:0002110	94.09	gold quality
duodenum	UBERON:0002114	93.75	gold quality
skin of leg	UBERON:0001511	93.48	gold quality
right lung	UBERON:0002167	93.39	gold quality
lower esophagus mucosa	UBERON:0035834	93.11	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	92.33	gold quality
mucosa of stomach	UBERON:0001199	92.24	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	92.24	gold quality
left lobe of thyroid gland	UBERON:0001120	92.17	gold quality
ileal mucosa	UBERON:0000331	92.16	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-119	yes	14.22
E-ANND-3	yes	7.49

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

29 targeting MYO1D, 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-4776-3P	100.00	68.73	1340
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-4639-5P	99.81	67.37	1028
HSA-MIR-567	99.63	68.57	1219
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-409-3P	99.50	66.33	1192
HSA-MIR-297	99.40	69.58	1418
HSA-MIR-3160-5P	99.28	69.07	1938
HSA-MIR-4528	99.18	69.77	1936
HSA-MIR-877-3P	99.09	68.10	1637
HSA-MIR-3124-3P	98.87	68.95	2123
HSA-MIR-6889-3P	98.84	67.35	1198
HSA-MIR-3149	98.77	67.13	1639
HSA-MIR-6529-3P	98.68	66.76	1020
HSA-MIR-3668	98.52	68.76	951
HSA-MIR-4659B-5P	98.03	66.84	979
HSA-MIR-4659A-5P	98.03	66.42	819
HSA-MIR-6735-3P	96.10	63.81	600
HSA-MIR-635	96.00	65.54	687
HSA-MIR-6774-5P	95.94	65.18	722
HSA-MIR-2861	95.24	65.47	1056

Literature-anchored findings (GeneRIF, showing 3)

• Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia. (PMID:19165527)
• Top single-nucleotide polymorphism rs379123 in MYO1D is located within genes that function in cell-cell signaling and cell migration. (PMID:25006744)
• Identification of a novel MYO1D variant associated with laterality defects, congenital heart diseases, and sperm defects in humans. (PMID:38684630)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	myo1d	ENSDARG00000036863
mus_musculus	Myo1d	ENSMUSG00000035441
rattus_norvegicus	Myo1d	ENSRNOG00000003276

Paralogs (44): MYH13 (ENSG00000006788), MYO16 (ENSG00000041515), MYO9A (ENSG00000066933), MYO3B (ENSG00000071909), MYH7B (ENSG00000078814), MYO15A (ENSG00000091536), MYH7 (ENSG00000092054), MYO3A (ENSG00000095777), MYO9B (ENSG00000099331), MYH9 (ENSG00000100345), MYH14 (ENSG00000105357), MYH1 (ENSG00000109061), MYH3 (ENSG00000109063), MYH2 (ENSG00000125414), MYO1B (ENSG00000128641), MYO5C (ENSG00000128833), CGNL1 (ENSG00000128849), MYH8 (ENSG00000133020), MYH10 (ENSG00000133026), MYH11 (ENSG00000133392), MYO18B (ENSG00000133454), CCDC102A (ENSG00000135736), MYO1G (ENSG00000136286), MYO7A (ENSG00000137474), MYO1F (ENSG00000142347), CGN (ENSG00000143375), TMF1 (ENSG00000144747), MYH15 (ENSG00000144821), MYO10 (ENSG00000145555), CCDC102B (ENSG00000150636), MYO1E (ENSG00000157483), CCDC158 (ENSG00000163749), MYO1A (ENSG00000166866), MYO5B (ENSG00000167306), MYO7B (ENSG00000169994), MYO1H (ENSG00000174527), MYO18A (ENSG00000196535), MYO6 (ENSG00000196586), MYO5A (ENSG00000197535), MYH6 (ENSG00000197616)

Protein

Protein identifiers

Unconventional myosin-Id — O94832 (reviewed: O94832)

All UniProt accessions (5): O94832, J3KRL0, J3QRN6, J3QRR2, K7EIG7

UniProt curated annotations — full annotation on UniProt →

Function. Unconventional myosin that functions as actin-based motor protein with ATPase activity. Plays a role in endosomal protein trafficking, and especially in the transfer of cargo proteins from early to recycling endosomes. Required for normal planar cell polarity in ciliated tracheal cells, for normal rotational polarity of cilia, and for coordinated, unidirectional ciliary movement in the trachea. Required for normal, polarized cilia organization in brain ependymal epithelial cells.

Subunit / interactions. Interacts (via the two IQ motifs) with calmodulin. Binds an additional calmodulin chain via a third, C-terminal region. Interacts with F-actin.

Subcellular location. Cytoplasm. Perikaryon. Cell projection. Dendrite. Early endosome. Cell cortex.

Tissue specificity. Expressed in many tissues. Highest levels in brain, followed by lung and ovary; expression is lowest in spleen.

Domain organisation. Binds a calmodulin chain via each of the two IQ domains. IQ domain 1 mediates interaction with calmodulin both in the presence and in the absence of Ca(2+). IQ domain 2 mediates interaction with calmodulin in the presence of Ca(2+). The TH1 domain is required for activity in complementing zebrafish defects in Kupffer’s vesicle lumen size.

Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.

RefSeq proteins (4): NP_001290208, NP_001290209, NP_001398017, NP_056009* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000048	IQ_motif_EF-hand-BS	Binding_site
IPR001609	Myosin_head_motor_dom-like	Domain
IPR010926	Myosin_TH1	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036072	MYSc_Myo1	Domain
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily

Pfam: PF00063, PF00612, PF06017

UniProt features (13 total): domain 4, modified residue 3, sequence variant 2, initiator methionine 1, chain 1, region of interest 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O94832-F1	88.50	0.56

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 (1): 102–109

Post-translational modifications (3): 536, 2, 200

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 246 (showing top): GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, ACTGCAG_MIR173P, chr17q11, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, CORRE_MULTIPLE_MYELOMA_UP, GOBP_VESICLE_MEDIATED_TRANSPORT_BETWEEN_ENDOSOMAL_COMPARTMENTS, GOMF_ACTIN_BINDING, ACTTTAT_MIR1425P, GOCC_NEURON_PROJECTION, KANG_IMMORTALIZED_BY_TERT_DN, LE_EGR2_TARGETS_DN, SASAKI_ADULT_T_CELL_LEUKEMIA

GO Biological Process (6): endocytosis (GO:0006897), actin filament organization (GO:0007015), protein transport (GO:0015031), actin filament-based movement (GO:0030048), cellular localization (GO:0051641), obsolete early endosome to recycling endosome transport (GO:0061502)

GO Molecular Function (10): microfilament motor activity (GO:0000146), calmodulin binding (GO:0005516), ATP binding (GO:0005524), protein domain specific binding (GO:0019904), calcium-dependent protein binding (GO:0048306), actin filament binding (GO:0051015), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (21): cytoplasm (GO:0005737), endosome (GO:0005768), early endosome (GO:0005769), plasma membrane (GO:0005886), microvillus (GO:0005902), brush border (GO:0005903), cell cortex (GO:0005938), actin cytoskeleton (GO:0015629), basolateral plasma membrane (GO:0016323), myosin complex (GO:0016459), axon (GO:0030424), axolemma (GO:0030673), cytoplasmic vesicle (GO:0031410), neuron projection (GO:0043005), neuronal cell body (GO:0043025), perikaryon (GO:0043204), myelin sheath (GO:0043209), extracellular exosome (GO:0070062), apical dendrite (GO:0097440), dendrite (GO:0030425), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein binding	3
cellular anatomical structure	3
cell periphery	2
cytoplasm	2
neuron projection	2
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
actin cytoskeleton organization	1
supramolecular fiber organization	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
actin filament-based process	1
cellular process	1
localization	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
ATP-dependent activity	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
calcium ion binding	1
actin binding	1
protein-containing complex binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
cytoskeletal protein binding	1
binding	1
intracellular anatomical structure	1
endomembrane system	1
cytoplasmic vesicle	1
endosome	1
membrane	1
actin filament bundle	1
actin-based cell projection	1
microvillus	1
apical part of cell	1
cluster of actin-based cell projections	1

Protein interactions and networks

STRING

902 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYO1D	RAB11FIP4	Q86YS3	798
MYO1D	UNC119	Q13432	770
MYO1D	INVS	Q9Y283	624
MYO1D	KIAA2013	Q8IYS2	535
MYO1D	CALM1	P02593	501
MYO1D	CALML6	Q8TD86	494
MYO1D	CALML4	Q96GE6	494
MYO1D	CALML3	P27482	493
MYO1D	CALML5	Q9NZT1	493
MYO1D	PDXDC1	Q6P996	490
MYO1D	MYO1B	O43795	455
MYO1D	VAPA	Q9P0L0	415
MYO1D	ACTB	P02570	412
MYO1D	ASRGL1	Q7L266	408
MYO1D	RCC2	Q9P258	406

IntAct

185 interactions, top by confidence:

A	B	Type	Score
ARRDC1	WWP2	psi-mi:“MI:0914”(association)	0.850
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
NEUROG3	GXYLT2	psi-mi:“MI:0914”(association)	0.640
TUBA4A	TXNDC9	psi-mi:“MI:0914”(association)	0.640
BTD	MYO1D	psi-mi:“MI:0915”(physical association)	0.590
CANX	PGRMC1	psi-mi:“MI:0914”(association)	0.570
DAPK1	MYO1B	psi-mi:“MI:0914”(association)	0.530
TOR1AIP2	TMEM223	psi-mi:“MI:0914”(association)	0.530
HAVCR2	TCAF2	psi-mi:“MI:0914”(association)	0.530
DKK3	NME4	psi-mi:“MI:0914”(association)	0.530
SCN3B	ABCC5	psi-mi:“MI:0914”(association)	0.530
PEX19	FAM20B	psi-mi:“MI:0914”(association)	0.530
FBXO40	MYO1D	psi-mi:“MI:0914”(association)	0.530
MYO1D	UBB	psi-mi:“MI:0914”(association)	0.530
ARRDC4	WWP2	psi-mi:“MI:0914”(association)	0.530
PSMC4	PSMD3	psi-mi:“MI:0914”(association)	0.530

BioGRID (277): MYO1D (Affinity Capture-MS), MYO1D (Affinity Capture-MS), MYO1D (Affinity Capture-MS), MYO1D (Affinity Capture-MS), MYO1D (Affinity Capture-MS), UBB (Affinity Capture-MS), TBC1D9B (Affinity Capture-MS), MYO1D (Reconstituted Complex), MYO1D (Affinity Capture-MS), MYO1D (Proximity Label-MS), MYO1D (Proximity Label-MS), MYO1D (Affinity Capture-MS), MYO1D (Affinity Capture-MS), UBB (Affinity Capture-MS), MYO1D (Affinity Capture-MS)

ESM2 similar proteins: A0MP03, A3LYL7, A5DKH0, A5PF48, A6ZMG6, E7F9L8, E9Q634, F1PRN2, F4I460, F4JM19, O00159, O00160, O08638, O88329, O94832, P10568, P10587, P11055, P35748, P35749, P70248, P97479, Q01989, Q04439, Q076A3, Q12965, Q13402, Q17LW0, Q17R14, Q23979, Q27966, Q29P71, Q5SYD0, Q5ZLA6, Q62774, Q62812, Q63355, Q63356, Q63357, Q6BUQ2

Diamond homologs: A0MP03, A1C4A5, A1DBH2, A2R5J1, A3LYL7, A4RE77, A5DKH0, A5E4A8, A5PF48, A6SED8, A6ZMG6, A6ZZJ1, A7EK16, A7TDZ8, A8N2Y6, A8PWF6, B0CRJ3, B0I1T2, B0Y9Q4, D3ZJP6, E7F9L8, E9Q634, F1PRN2, F4HWY6, F4I5Q6, F4IUG9, F4IVR7, F4JM19, F4K5J1, K7U9N8, O00159, O00160, O43795, O88329, O94832, P0CP00, P0CP01, P10568, P10569, P19706

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 192 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
MAP3K8 (TPL2)-dependent MAPK1/3 activation	5	28.6×	2e-05
Gap junction trafficking and regulation	6	22.8×	1e-05
Gap junction trafficking	6	22.8×	1e-05
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane	5	21.8×	6e-05
Transport of connexons to the plasma membrane	5	21.8×	6e-05
Activation of AMPK downstream of NMDARs	7	21.3×	4e-06
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding	6	19.6×	2e-05
RHO GTPases activate IQGAPs	7	19.4×	5e-06

GO biological processes:

GO term	Partners	Fold	FDR
mitotic cell cycle	9	6.9×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	137
Likely benign	8
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

5374 predictions. Top by Δscore:

Variant	Effect	Δscore
17:32494926:C:CT	acceptor_gain	1.0000
17:32494927:A:T	acceptor_gain	1.0000
17:32587816:T:A	donor_gain	1.0000
17:32605082:TTTA:T	donor_loss	1.0000
17:32605083:TTAC:T	donor_loss	1.0000
17:32605084:TACCT:T	donor_loss	1.0000
17:32605085:A:AC	donor_gain	1.0000
17:32605085:ACC:A	donor_loss	1.0000
17:32605086:C:CC	donor_gain	1.0000
17:32605086:C:G	donor_loss	1.0000
17:32605086:CCT:C	donor_gain	1.0000
17:32605088:T:TA	donor_gain	1.0000
17:32605237:GTCAA:G	acceptor_gain	1.0000
17:32605238:TCAA:T	acceptor_gain	1.0000
17:32605239:CAA:C	acceptor_gain	1.0000
17:32605239:CAAC:C	acceptor_gain	1.0000
17:32605240:AA:A	acceptor_gain	1.0000
17:32605240:AAC:A	acceptor_loss	1.0000
17:32605241:ACT:A	acceptor_loss	1.0000
17:32605242:C:CC	acceptor_gain	1.0000
17:32605243:T:A	acceptor_loss	1.0000
17:32638716:ACTT:A	donor_loss	1.0000
17:32638717:CT:C	donor_loss	1.0000
17:32638718:TT:T	donor_loss	1.0000
17:32638719:TAC:T	donor_loss	1.0000
17:32638720:A:AC	donor_gain	1.0000
17:32638720:ACATT:A	donor_loss	1.0000
17:32638721:C:CA	donor_loss	1.0000
17:32638721:C:CC	donor_gain	1.0000
17:32638721:CA:C	donor_gain	1.0000

AlphaMissense

6688 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:32721169:G:C	C589W	1.000
17:32721170:C:T	C589Y	1.000
17:32721171:A:G	C589R	1.000
17:32721176:A:T	V587D	1.000
17:32755628:A:G	L444P	1.000
17:32760339:A:G	L416P	1.000
17:32760366:A:G	L407P	1.000
17:32760374:A:C	N404K	1.000
17:32760374:A:T	N404K	1.000
17:32760383:A:C	N401K	1.000
17:32760383:A:T	N401K	1.000
17:32760387:A:T	I400N	1.000
17:32760395:T:A	Q397H	1.000
17:32760395:T:G	Q397H	1.000
17:32760502:A:C	F387L	1.000
17:32760502:A:T	F387L	1.000
17:32760503:A:G	F387S	1.000
17:32760504:A:G	F387L	1.000
17:32760506:C:T	G386D	1.000
17:32760507:C:A	G386C	1.000
17:32760507:C:G	G386R	1.000
17:32760514:A:C	D383E	1.000
17:32760514:A:T	D383E	1.000
17:32760515:T:A	D383V	1.000
17:32760515:T:C	D383G	1.000
17:32760515:T:G	D383A	1.000
17:32760516:C:G	D383H	1.000
17:32775940:C:T	G163E	1.000
17:32775941:C:G	G163R	1.000
17:32775941:C:T	G163R	1.000

dbSNP variants (sampled 300 via entrez): RS1000001783 (17:32828249 G>A), RS1000017043 (17:32847485 G>A), RS1000026813 (17:32555158 T>C), RS1000030841 (17:32700366 C>T), RS1000036109 (17:32523990 T>C), RS1000046696 (17:32785959 G>C), RS1000048409 (17:32669456 C>G), RS1000056865 (17:32534679 G>A), RS1000057958 (17:32555494 A>G), RS1000062734 (17:32651264 T>C,G), RS1000072762 (17:32734261 C>G), RS1000073452 (17:32539033 G>T), RS1000079585 (17:32716663 G>C), RS1000081555 (17:32672630 C>A,T), RS1000087749 (17:32859093 T>C)

Disease associations

OMIM: gene MIM:606539 | 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

23 associations (top):

Study	Trait	p-value
GCST000745_12	Pancreatic cancer	6.000000e-06
GCST001405_2	Hypertension risk in short sleep duration	5.000000e-06
GCST001858_19	Refractive error	1.000000e-10
GCST002525_10	Local histogram emphysema pattern	2.000000e-08
GCST002525_24	Local histogram emphysema pattern	2.000000e-06
GCST002594_36	Neurofibrillary tangles	5.000000e-06
GCST003997_14	Myopia	4.000000e-12
GCST004611_216	High light scatter reticulocyte count	5.000000e-14
GCST004612_206	High light scatter reticulocyte percentage of red cells	7.000000e-15
GCST004619_157	Reticulocyte fraction of red cells	7.000000e-13
GCST004621_189	Red cell distribution width	4.000000e-26
GCST004622_48	Reticulocyte count	3.000000e-11
GCST004628_17	Immature fraction of reticulocytes	1.000000e-10
GCST006291_108	Spherical equivalent or myopia (age of diagnosis)	1.000000e-17
GCST010002_122	Refractive error	7.000000e-44
GCST010094_7	Emotional recognition	3.000000e-07
GCST012696_5	Anorexia nervosa	2.000000e-06
GCST90002385_409	High light scatter reticulocyte count	6.000000e-25
GCST90002386_181	High light scatter reticulocyte percentage of red cells	2.000000e-27
GCST90002387_26	Immature fraction of reticulocytes	3.000000e-20
GCST90002404_156	Red cell distribution width	1.000000e-24
GCST90002405_399	Reticulocyte count	7.000000e-18
GCST90002406_454	Reticulocyte fraction of red cells	1.000000e-20

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0005850	emphysema pattern measurement
EFO:0006797	neurofibrillary tangles measurement
EFO:0007986	reticulocyte count
EFO:0009188	Red cell distribution width
EFO:0004847	age at onset
EFO:0008329	facial emotion recognition measurement

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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, increases methylation, affects cotreatment	7
Benzo(a)pyrene	decreases expression, increases methylation	5
Aflatoxin B1	decreases expression, increases methylation	4
bisphenol A	decreases methylation, increases expression, affects cotreatment	3
bisphenol F	increases expression, affects cotreatment	2
mercuric bromide	increases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
Acetaminophen	increases expression	2
Calcitriol	increases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
aristolochic acid I	decreases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
trichostatin A	increases expression	1
beta-lapachone	increases expression	1
sodium arsenite	affects methylation	1
cobaltous chloride	decreases expression	1
perfluorooctanoic acid	increases expression	1
methacrylaldehyde	increases expression, affects cotreatment	1
CGP 52608	increases reaction, affects binding	1
3-nitrobenzanthrone	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
bisphenol B	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, decreases expression	1
incobotulinumtoxinA	increases expression	1
Fulvestrant	decreases methylation, affects cotreatment	1
Acrolein	affects cotreatment, increases expression	1
Air Pollutants	increases expression, increases abundance	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