DPY19L2

Summary

DPY19L2 (dpy-19 like 2, HGNC:19414) is a protein-coding gene on chromosome 12q14.2, encoding Probable C-mannosyltransferase DPY19L2 (Q6NUT2). Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins. It is a selective cancer dependency (DepMap: 10.8% of cell lines).

The protein encoded by this gene belongs to the dpy-19 family. It is highly expressed in testis, and is required for sperm head elongation and acrosome formation during spermatogenesis. Mutations in this gene are associated with an infertility disorder, spermatogenic failure type 9 (SPGF9).

Source: NCBI Gene 283417 — RefSeq curated summary.

At a glance

• Gene–disease (curated): male infertility due to globozoospermia (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 5
• Clinical variants (ClinVar): 154 total — 9 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 4
• Cancer dependency (DepMap): dependent in 10.8% of screened cell lines
• MANE Select transcript: NM_173812

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19414
Approved symbol	DPY19L2
Name	dpy-19 like 2
Location	12q14.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32949, SPATA34
Ensembl gene	ENSG00000177990
Ensembl biotype	protein_coding
OMIM	613893
Entrez	283417

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 16 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay

ENST00000306389, ENST00000324472, ENST00000413230, ENST00000439061, ENST00000536494, ENST00000538147, ENST00000541083, ENST00000541911, ENST00000542209, ENST00000882290, ENST00000882291, ENST00000882292, ENST00000882293, ENST00000961030, ENST00000961031, ENST00000961032, ENST00000961033, ENST00000961034, ENST00000961035, ENST00000961036, ENST00000961037

RefSeq mRNA: 1 — MANE Select: NM_173812 NM_173812

CCDS: CCDS31851

Canonical transcript exons

ENST00000324472 — 22 exons

Exon	Start	End
ENSE00001285796	63558913	63560662
ENSE00001285934	63668057	63668493
ENSE00001784419	63624040	63624131
ENSE00003473483	63626469	63626526
ENSE00003497804	63597809	63597910
ENSE00003524067	63595966	63596037
ENSE00003531066	63594087	63594133
ENSE00003535854	63617304	63617390
ENSE00003547552	63583812	63583836
ENSE00003558169	63570758	63570857
ENSE00003567400	63600306	63600386
ENSE00003598931	63661344	63661481
ENSE00003613639	63618151	63618228
ENSE00003616557	63569224	63569349
ENSE00003623222	63665835	63665859
ENSE00003629705	63647245	63647365
ENSE00003635022	63663758	63663845
ENSE00003641771	63644403	63644496
ENSE00003665495	63608616	63608675
ENSE00003687905	63621238	63621337
ENSE00003690907	63582406	63582525
ENSE00003716705	63580662	63580836

Expression profiles

Bgee: expression breadth ubiquitous, 202 present calls, max score 95.96.

FANTOM5 (CAGE): breadth broad, TPM avg 0.4420 / max 32.4781, expressed in 190 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
131846	0.3929	175
131847	0.0491	19

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	95.96	gold quality
popliteal artery	UBERON:0002250	95.41	gold quality
tibial artery	UBERON:0007610	95.39	gold quality
right atrium auricular region	UBERON:0006631	95.27	gold quality
cardiac atrium	UBERON:0002081	94.89	gold quality
sperm	CL:0000019	94.74	gold quality
right testis	UBERON:0004534	94.22	gold quality
heart left ventricle	UBERON:0002084	94.02	gold quality
left testis	UBERON:0004533	93.96	gold quality
cardiac ventricle	UBERON:0002082	93.51	gold quality
right ovary	UBERON:0002118	93.47	gold quality
left ovary	UBERON:0002119	93.37	gold quality
heart	UBERON:0000948	93.12	gold quality
left lobe of thyroid gland	UBERON:0001120	93.07	gold quality
right lobe of thyroid gland	UBERON:0001119	92.90	gold quality
cardiac muscle of right atrium	UBERON:0003379	92.86	gold quality
right uterine tube	UBERON:0001302	92.85	gold quality
thyroid gland	UBERON:0002046	92.42	gold quality
metanephros cortex	UBERON:0010533	92.36	gold quality
testis	UBERON:0000473	91.78	gold quality
adenohypophysis	UBERON:0002196	91.72	gold quality
right coronary artery	UBERON:0001625	91.56	gold quality
left coronary artery	UBERON:0001626	91.13	gold quality
endocervix	UBERON:0000458	91.07	gold quality
body of uterus	UBERON:0009853	91.01	gold quality
cortical plate	UBERON:0005343	90.81	gold quality
aorta	UBERON:0000947	90.40	gold quality
ventricular zone	UBERON:0003053	90.34	gold quality
right hemisphere of cerebellum	UBERON:0014890	90.17	gold quality
pituitary gland	UBERON:0000007	90.02	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-131882	yes	1082.74
E-CURD-119	yes	43.62
E-ANND-3	yes	6.22
E-MTAB-11268	no	1197.72
E-GEOD-98556	no	717.07
E-MTAB-7249	no	52.15

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

96 targeting DPY19L2, 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-656-3P	100.00	72.15	2788
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
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-548D-3P	99.87	70.67	4362
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 10.8% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 15)

• The relocation of the gene DPY19L2 within a set of low copy repeats. (PMID:16526957)
• Patients with globozoospermia have a homozygous deletion of DPY19L2. (PMID:21397064)
• identification of DPY19L2 deletions and point mutations in European patients shows that globozoospemia caused by a molecular defect of DPY19L2 can be expected in individuals from any ethnic background (PMID:22627659)
• DPY19L2 is the major gene responsible for globozoospermia and enlarges the spectrum of possible mutations in the gene. (PMID:22653751)
• The DPY19L2 mutations are the major cause of globozoospermia. (PMID:23512994)
• Analysis of public databases at the DPY19L2 locus paradoxically revealed that, in the general population, duplications were approximately three times as frequent as deletions. (PMID:23555282)
• Among Tunisian patients with globozoospermia, 8 DPY19L2 haplotypes were found. 61.1% were homozygous for a DPY19L2 deletion. A new splice-site mutation at the junction exon-intron 16 [c.1579_1580+4delAGGTAAinsTCAT] was found in 1 patient. (PMID:26516168)
• Patients presenting with a monomorphic teratozoospermia such as globozoospermia or macrospermia with more than 85% of the spermatozoa presenting this specific abnormality have been analyzed permitting to identify several key genes for spermatogenesis such as AURKC and DPY19L2. (PMID:27779748)
• provide new evidence, on the one hand, for a severe lack of maturation of the NL, and on the other hand, for dramatic modifications in the location of chromatin-related NL partners in DPY19L2-deleted spermatozoa (PMID:28882431)
• Low PLCZ1 expression is associated with globozoospermia with DPY19L2 deletion. (PMID:29339016)
• Here, we performed a screening of DPY19L2 variants in a cohort of Chinese globozoospermic patients and found that five of nine patients carried DPY19L2 deletions and the other four patients contained novel DPY19L2 point mutations (PMID:30333325)
• Deletion of dpy-19 like 2 (DPY19L2) gene is associated with total but not partial globozoospermia. (PMID:32312381)
• Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player. (PMID:33108537)
• [Detection of DPY19L2 gene mutation in 2 cases of globozoospermia]. (PMID:33377718)
• Genome-wide compound heterozygote analysis highlights DPY19L2 alleles in a non-consanguineous Spanish family with total globozoospermia. (PMID:35610156)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Dpy19l2	ENSMUSG00000085576
rattus_norvegicus	Dpy19l2	ENSRNOG00000045585

Paralogs (3): DPY19L4 (ENSG00000156162), DPY19L1 (ENSG00000173852), DPY19L3 (ENSG00000178904)

Protein

Protein identifiers

Probable C-mannosyltransferase DPY19L2 — Q6NUT2 (reviewed: Q6NUT2)

Alternative names: Dpy-19-like protein 2, Protein dpy-19 homolog 2

All UniProt accessions (6): Q6NUT2, F5H0W1, F5H1L7, F5H4G6, F5H5T7, H0YF77

UniProt curated annotations — full annotation on UniProt →

Function. Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins. Required during spermatogenesis for sperm head elongation and acrosome formation. Also plays a role in acrosome attachment to the nuclear envelope.

Subunit / interactions. Interacts with FAM209.

Subcellular location. Nucleus inner membrane.

Tissue specificity. Widely expressed with high expression in testis. Not detectable in ejaculated sperm (at protein level).

Disease relevance. Spermatogenic failure 9 (SPGF9) [MIM:613958] An infertility disorder caused by spermatogenesis defects. The most prominent feature is the malformation of the acrosome, which can be totally absent in most severe cases. Additional features are an abnormal nuclear shape and abnormal arrangement of the mitochondria of the spermatozoon. The disease is caused by variants affecting the gene represented in this entry. Deletions in DPY19L2 are probably the major cause of SPGF9.

Miscellaneous. It has been suggested that DPY19L2P1 is an inactive pseudogene from which DPY19L2 has evolved by duplication. However, expressed transcript sequences derived from the DPY19L2P1 locus are known to exist.

Similarity. Belongs to the dpy-19 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6NUT2-1	1	yes
Q6NUT2-2	2

RefSeq proteins (1): NP_776173* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018732	Dpy-19/Dpy-19-like	Family

Pfam: PF10034

UniProt features (38 total): sequence variant 13, topological domain 10, transmembrane region 10, chain 1, region of interest 1, compositionally biased region 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6NUT2-F1	81.61	0.53

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 75 (showing top): BENPORATH_ES_WITH_H3K27ME3, GOBP_MALE_GAMETE_GENERATION, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, SENESE_HDAC3_TARGETS_DN, GOCC_NUCLEAR_ENVELOPE, BUCKANOVICH_T_LYMPHOCYTE_HOMING_ON_TUMOR_UP, GOCC_ORGANELLE_INNER_MEMBRANE, GOCC_NUCLEAR_INNER_MEMBRANE, GOCC_NUCLEAR_MEMBRANE, GOMF_HEXOSYLTRANSFERASE_ACTIVITY, GOMF_MANNOSYLTRANSFERASE_ACTIVITY, GOMF_GLYCOSYLTRANSFERASE_ACTIVITY, GOCC_ORGANELLE_ENVELOPE

GO Biological Process (3): spermatid development (GO:0007286), spermatogenesis (GO:0007283), cell differentiation (GO:0030154)

GO Molecular Function (3): mannosyltransferase activity (GO:0000030), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (3): nucleus (GO:0005634), nuclear inner membrane (GO:0005637), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
germ cell development	1
spermatid differentiation	1
developmental process involved in reproduction	1
male gamete generation	1
cellular developmental process	1
hexosyltransferase activity	1
catalytic activity	1
transferase activity	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
nuclear membrane	1
cellular anatomical structure	1

Protein interactions and networks

STRING

650 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DPY19L2	SPATA16	Q9BXB7	899
DPY19L2	ZPBP	Q9BS86	818
DPY19L2	SPACA1	Q9HBV2	766
DPY19L2	PICK1	Q9NRD5	763
DPY19L2	SUN5	Q8TC36	684
DPY19L2	AURKC	Q9UQB9	682
DPY19L2	DNAH1	Q9P2D7	639
DPY19L2	SPACDR	Q8IZ16	635
DPY19L2	GOPC	Q9HD26	633
DPY19L2	CCDC62	Q6P9F0	595
DPY19L2	PLCZ1	Q86YW0	595
DPY19L2	SPATA46	Q5T0L3	590
DPY19L2	AGFG1	P52594	588
DPY19L2	CATSPER1	Q8NEC5	564
DPY19L2	SLC71A1	Q96MC6	538

IntAct

14 interactions, top by confidence:

A	B	Type	Score
ANKRD22	ESYT2	psi-mi:“MI:0914”(association)	0.530
LDLRAD4	WWP2	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
DPY19L2	GUK1	psi-mi:“MI:0915”(physical association)	0.400
	NBAS	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
	TOM1	psi-mi:“MI:0914”(association)	0.350
ACKR3	PDE2A	psi-mi:“MI:0914”(association)	0.350
CD80	RIMOC1	psi-mi:“MI:0914”(association)	0.350
CXCR3	RIMOC1	psi-mi:“MI:0914”(association)	0.350
HEATR3	PLD2	psi-mi:“MI:0914”(association)	0.350
SCN3B	NBAS	psi-mi:“MI:0914”(association)	0.350

BioGRID (7): GUK1 (Affinity Capture-MS), GUK1 (Affinity Capture-MS), DPY19L2 (Affinity Capture-MS), DPY19L2 (Affinity Capture-MS), DPY19L2 (Affinity Capture-MS), DPY19L2 (Co-fractionation), DPY19L2 (Co-fractionation)

ESM2 similar proteins: A0AAS4, A0JP80, A4II83, A5D6W6, A7YWN2, B2MVP8, D4AD75, O04928, O42153, O42154, O49639, O64761, O70536, P0CW70, P23501, P47013, P53223, P53439, Q06676, Q0VFE3, Q1LW89, Q1LZA4, Q20696, Q20735, Q52KL1, Q568I2, Q5CZ37, Q5CZN0, Q68EV0, Q6AX73, Q6NUT2, Q7K0P4, Q7T3T4, Q7TN73, Q7TSN4, Q7TSX5, Q7Z7B1, Q810K3, Q86IX2, Q86VZ5

Diamond homologs: A6X919, A8Y3M2, D4AD75, P0CW70, P34413, Q2PZI1, Q5RCJ4, Q6NUT2, Q6NXN4, Q6ZN68, Q6ZPD9, Q71B07, Q9VWR8, A2AJQ3, Q5R8N9, Q7Z388

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	9
Likely pathogenic	1
Uncertain significance	95
Likely benign	13
Benign	8

Top pathogenic / likely-pathogenic (10)

Variant ID	HGVS	Classification
101504	NM_173812.5(DPY19L2):c.869G>A (p.Arg290His)	Pathogenic
101505	NM_173812.5(DPY19L2):c.2038A>T (p.Lys680Ter)	Pathogenic
101506	NM_173812.5(DPY19L2):c.1183del (p.Ser395fs)	Pathogenic
101507	NG_031909.1:g.(12232_26209)_(29173_47048)del	Pathogenic
101508	NM_173812.5(DPY19L2):c.892C>T (p.Arg298Cys)	Pathogenic
101509	NM_173812.5(DPY19L2):c.1218+1G>A	Pathogenic
1676200	NM_173812.5(DPY19L2):c.893G>A (p.Arg298His)	Pathogenic
31083	NC_000012.12:g.(?63558913)(63669201_?)del	Pathogenic
831821	NC_000012.12:g.(?63595966)(63596037_?)del	Pathogenic
4526354	NM_173812.5(DPY19L2):c.817G>A (p.Gly273Arg)	Likely pathogenic

SpliceAI

3833 predictions. Top by Δscore:

Variant	Effect	Δscore
12:63560658:CAGGC:C	acceptor_gain	1.0000
12:63560661:GCCTG:G	acceptor_loss	1.0000
12:63560663:C:CC	acceptor_gain	1.0000
12:63570746:T:C	donor_gain	1.0000
12:63580700:T:TA	donor_gain	1.0000
12:63582522:CCAG:C	acceptor_gain	1.0000
12:63582523:CAG:C	acceptor_gain	1.0000
12:63582523:CAGC:C	acceptor_gain	1.0000
12:63582526:C:CC	acceptor_gain	1.0000
12:63597808:CCG:C	donor_gain	1.0000
12:63597911:C:CC	acceptor_gain	1.0000
12:63626412:T:TA	donor_gain	1.0000
12:63647262:T:TA	donor_gain	1.0000
12:63647367:T:C	acceptor_gain	1.0000
12:63661488:T:C	acceptor_gain	1.0000
12:63663755:AAC:A	donor_gain	1.0000
12:63560659:AGGC:A	acceptor_gain	0.9900
12:63560660:GGC:G	acceptor_gain	0.9900
12:63560661:GC:G	acceptor_gain	0.9900
12:63560662:CC:C	acceptor_gain	0.9900
12:63570745:A:AC	donor_gain	0.9900
12:63570745:AT:A	donor_gain	0.9900
12:63570853:AGCAT:A	acceptor_gain	0.9900
12:63570854:GCAT:G	acceptor_gain	0.9900
12:63570855:CAT:C	acceptor_gain	0.9900
12:63570855:CATC:C	acceptor_gain	0.9900
12:63570858:C:CG	acceptor_loss	0.9900
12:63580657:CA:C	donor_gain	0.9900
12:63580657:CACA:C	donor_gain	0.9900
12:63580658:ACAC:A	donor_loss	0.9900

AlphaMissense

4975 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:63580694:A:G	L623P	0.998
12:63580717:A:C	F615L	0.998
12:63580717:A:T	F615L	0.998
12:63580719:A:G	F615L	0.998
12:63569257:A:T	V698D	0.996
12:63570787:A:C	N657K	0.996
12:63570787:A:T	N657K	0.996
12:63570848:A:G	F637S	0.996
12:63569239:C:G	C704S	0.995
12:63569240:A:G	C704R	0.995
12:63569240:A:T	C704S	0.995
12:63570845:G:T	A638E	0.995
12:63569316:A:C	S678R	0.994
12:63569316:A:T	S678R	0.994
12:63569318:T:G	S678R	0.994
12:63569332:A:T	V673D	0.994
12:63560594:C:G	C732S	0.993
12:63560595:A:G	C732R	0.993
12:63560595:A:T	C732S	0.993
12:63560637:A:G	W718R	0.993
12:63560637:A:T	W718R	0.993
12:63560548:A:C	F747L	0.991
12:63560548:A:T	F747L	0.991
12:63560550:A:G	F747L	0.991
12:63560594:C:T	C732Y	0.991
12:63569238:A:C	C704W	0.991
12:63569239:C:T	C704Y	0.991
12:63569317:C:A	S678I	0.991
12:63570842:C:T	G639D	0.991
12:63570848:A:C	F637C	0.991

dbSNP variants (sampled 300 via entrez): RS1000028301 (12:63647690 A>G), RS1000044999 (12:63561399 C>T), RS1000060454 (12:63598179 G>A), RS1000126723 (12:63609519 G>A), RS10001648 (12:63631904 T>C,G), RS1000181616 (12:63588541 A>T), RS1000234213 (12:63588790 G>C), RS1000234893 (12:63632469 C>T), RS1000499287 (12:63609151 A>G), RS1000519248 (12:63589837 CAT>C), RS1000584279 (12:63582869 G>A), RS1000628322 (12:63600177 A>G), RS1000667610 (12:63596530 A>G), RS1000691036 (12:63637409 C>G), RS1000693581 (12:63571580 T>G)

Disease associations

OMIM: gene MIM:613893 | disease phenotypes: MIM:613958, MIM:189800

GenCC curated gene-disease

Disease	Classification	Inheritance
spermatogenic failure 9	Strong	Autosomal recessive
male infertility due to globozoospermia	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
male infertility due to globozoospermia	Definitive	AR

Mondo (4): spermatogenic failure 9 (MONDO:0013505), preeclampsia (MONDO:0005081), primary ovarian failure (MONDO:0005387), male infertility due to globozoospermia (MONDO:0015746)

Orphanet (3): Male infertility due to globozoospermia (Orphanet:171709), Preeclampsia (Orphanet:275555), NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

4 total (4 of 4 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0003251	Male infertility
HP:0011462	Young adult onset
HP:0012205	Globozoospermia

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST007565_15	Morning person	2.000000e-16
GCST008114_8	Type 2 diabetes	8.000000e-06
GCST008152_115	Weight	4.000000e-06
GCST008444_9	High density lipoprotein cholesterol levels	6.000000e-06
GCST010566_7	Benign childhood epilepsy with centro-temporal spikes	8.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0008328	chronotype measurement
EFO:0004338	body weight
EFO:0004612	high density lipoprotein cholesterol measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D011225	Pre-Eclampsia	C12.050.703.395.249
D016649	Primary Ovarian Insufficiency	C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	5
methylmercuric chloride	decreases expression	1
bisphenol A	affects cotreatment, decreases methylation	1
trichostatin A	increases expression	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
manganese chloride	increases abundance, affects cotreatment, decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Diethylhexyl Phthalate	decreases expression	1
Doxorubicin	decreases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Nickel	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	increases expression	1
Aflatoxin B1	decreases methylation	1
Antirheumatic Agents	increases expression	1
Cadmium Chloride	increases expression	1
Magnetite Nanoparticles	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