DNAJB13

Summary

DNAJB13 (DnaJ heat shock protein family (Hsp40) member B13, HGNC:30718) is a protein-coding gene on chromosome 11q13.4, encoding DnaJ homolog subfamily B member 13 (P59910). Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia.

This gene encodes a member of the heat shock protein 40 co-chaperone family which is produced in large amounts in the testis and is located on the radial spokes of the axoneme in human sperm flagella and other flagellar structures. The encoded protein associates with the sperm annulus, as part of the septin complex, through direct interaction with septin 4, during sperm terminal differentiation. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and male infertility.

Source: NCBI Gene 374407 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary ciliary dyskinesia 34 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 230 total — 9 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 54
• MANE Select transcript: NM_153614

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30718
Approved symbol	DNAJB13
Name	DnaJ heat shock protein family (Hsp40) member B13
Location	11q13.4
Locus type	gene with protein product
Status	Approved
Aliases	TSARG6, RSPH16A
Ensembl gene	ENSG00000187726
Ensembl biotype	protein_coding
OMIM	610263
Entrez	374407

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 retained_intron

ENST00000339764, ENST00000535730, ENST00000537753, ENST00000542350, ENST00000543947, ENST00000897971

RefSeq mRNA: 2 — MANE Select: NM_153614 NM_001377263, NM_153614

CCDS: CCDS8227

Canonical transcript exons

ENST00000339764 — 8 exons

Exon	Start	End
ENSE00001370087	73959494	73959655
ENSE00001377750	73964878	73965035
ENSE00001381264	73968345	73968458
ENSE00001383720	73951026	73951137
ENSE00002470248	73969961	73970281
ENSE00002483728	73969246	73969322
ENSE00003556881	73966138	73966251
ENSE00003684859	73958317	73958420

Expression profiles

Bgee: expression breadth ubiquitous, 167 present calls, max score 98.71.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4017 / max 53.6134, expressed in 122 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
115831	0.4017	122

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	98.71	gold quality
bronchial epithelial cell	CL:0002328	93.60	gold quality
bronchus	UBERON:0002185	92.18	gold quality
granulocyte	CL:0000094	90.06	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	89.84	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.23	gold quality
fallopian tube	UBERON:0003889	84.39	gold quality
left testis	UBERON:0004533	84.05	gold quality
right testis	UBERON:0004534	82.75	gold quality
nasal cavity epithelium	UBERON:0005384	82.74	silver quality
oviduct epithelium	UBERON:0004804	81.64	gold quality
mucosa of paranasal sinus	UBERON:0005030	81.28	gold quality
testis	UBERON:0000473	81.13	gold quality
tibialis anterior	UBERON:0001385	79.80	silver quality
ileal mucosa	UBERON:0000331	77.58	gold quality
left uterine tube	UBERON:0001303	75.90	gold quality
monocyte	CL:0000576	75.72	gold quality
pancreatic ductal cell	CL:0002079	75.30	silver quality
leukocyte	CL:0000738	75.24	gold quality
epithelium of nasopharynx	UBERON:0001951	73.00	gold quality
nasal cavity mucosa	UBERON:0001826	72.87	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	69.79	gold quality
endometrium	UBERON:0001295	69.75	gold quality
right lung	UBERON:0002167	69.60	gold quality
kidney epithelium	UBERON:0004819	69.30	gold quality
deltoid	UBERON:0001476	68.00	gold quality
endocervix	UBERON:0000458	67.88	gold quality
cardiac muscle of right atrium	UBERON:0003379	66.88	gold quality
oocyte	CL:0000023	65.49	silver quality
seminal vesicle	UBERON:0000998	65.27	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.88

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

7 targeting DNAJB13, 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-4795-3P	100.00	74.62	4024
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-6780B-3P	99.13	67.18	622
HSA-MIR-6810-3P	97.96	64.57	1023
HSA-MIR-10397-3P	97.78	65.70	601
HSA-MIR-7154-3P	97.65	65.02	985
HSA-MIR-7161-3P	96.79	68.79	798

Literature-anchored findings (GeneRIF, showing 4)

• TSARG6 is specifically expressed in adult testis with a transcript of 1.8 kb, which has a role in spermatogenesis and apoptosis (PMID:14970903)
• this study, which establishes mutations in DNAJB13 as a cause of PCD, unveils the key role played by DNAJB13 in the proper formation and function of ciliary and flagellar axonemes in humans (PMID:27486783)
• Missense mutation in DNAJB13 gene correlated with male fertility in asthenozoospermia. (PMID:31342671)
• A novel homozygous mutation in DNAJB13-a gene associated with the sperm axoneme-leads to teratozoospermia. (PMID:35166991)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	dnajb13	ENSDARG00000043157
mus_musculus	Dnajb13	ENSMUSG00000030708
rattus_norvegicus	Dnajb13	ENSRNOG00000017975
drosophila_melanogaster	CG12020	FBGN0035273

Paralogs (11): DNAJB11 (ENSG00000090520), DNAJB6 (ENSG00000105993), DNAJB9 (ENSG00000128590), DNAJB1 (ENSG00000132002), DNAJB2 (ENSG00000135924), DNAJB5 (ENSG00000137094), DNAJB12 (ENSG00000148719), DNAJB4 (ENSG00000162616), DNAJB14 (ENSG00000164031), DNAJB7 (ENSG00000172404), DNAJB8 (ENSG00000179407)

Protein

Protein identifiers

DnaJ homolog subfamily B member 13 — P59910 (reviewed: P59910)

Alternative names: Testis and spermatogenesis cell-related protein 6, Testis spermatocyte apoptosis-related gene 6 protein, Testis spermatogenesis apoptosis-related gene 3 protein, Testis spermatogenesis apoptosis-related gene 6 protein

All UniProt accessions (2): H0YFX2, P59910

UniProt curated annotations — full annotation on UniProt →

Function. Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia.

Subunit / interactions. Homodimer. Component of the axonemal radial spoke complex 1 (RS1), at least composed of spoke head proteins RSPH1, RSPH3, RSPH9 and the cilia-specific component RSPH4A or sperm-specific component RSPH6A, spoke stalk proteins RSPH14, DNAJB13, DYDC1, ROPN1L and NME5, and the anchor protein IQUB. Interacts with SUN5. Interacts with IQUB. Interacts with DNAH12.

Subcellular location. Cell projection. Cilium. Flagellum.

Tissue specificity. Specifically expressed in testis and trachea.

Disease relevance. Ciliary dyskinesia, primary, 34 (CILD34) [MIM:617091] A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD34 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
P59910-1	1	yes
P59910-2	2, TSARG5

RefSeq proteins (2): NP_001364192, NP_705842* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001623	DnaJ_domain	Domain
IPR002939	DnaJ_C	Domain
IPR008971	HSP40/DnaJ_pept-bd	Homologous_superfamily
IPR018253	DnaJ_domain_CS	Conserved_site
IPR036869	J_dom_sf	Homologous_superfamily
IPR051339	DnaJ_subfamily_B	Family

Pfam: PF00226, PF01556

UniProt features (5 total): splice variant 2, chain 1, domain 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8J07	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P59910-F1	86.81	0.61

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 210 (showing top): TGACCTY_ERR1_Q2, chr11q13, GOBP_PROTEIN_MATURATION, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ORGANELLE_ASSEMBLY, GOBP_PROTEIN_FOLDING, GOBP_MICROTUBULE_BUNDLE_FORMATION, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_AXONEME_ASSEMBLY, LEE_AGING_NEOCORTEX_UP, GOCC_CYTOPLASMIC_REGION, GOCC_MOTILE_CILIUM, GAVIN_FOXP3_TARGETS_CLUSTER_P3

GO Biological Process (4): protein folding (GO:0006457), axonemal central apparatus assembly (GO:1904158), microtubule-based process (GO:0007017), cell projection organization (GO:0030030)

GO Molecular Function (3): obsolete unfolded protein binding (GO:0051082), protein-folding chaperone binding (GO:0051087), protein binding (GO:0005515)

GO Cellular Component (9): radial spoke (GO:0001534), cytosol (GO:0005829), motile cilium (GO:0031514), sperm flagellum (GO:0036126), sperm head-tail coupling apparatus (GO:0120212), cytoplasm (GO:0005737), cilium (GO:0005929), axoneme (GO:0005930), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
cellular process	2
protein maturation	1
cellular component assembly	1
axoneme assembly	1
cellular component organization	1
protein binding	1
binding	1
axoneme	1
protein-containing complex	1
cytoplasm	1
cilium	1
9+2 motile cilium	1
intracellular anatomical structure	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cytoskeleton	1
microtubule	1
ciliary plasm	1

Protein interactions and networks

STRING

2325 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNAJB13	SEPTIN4	O43236	732
DNAJB13	RSPH4A	Q5TD94	582
DNAJB13	CFAP43	Q8NDM7	575
DNAJB13	QRICH2	Q9H0J4	574
DNAJB13	RSPH3	Q86UC2	570
DNAJB13	SUN5	Q8TC36	567
DNAJB13	ODAD4	Q96NG3	566
DNAJB13	TTC21A	Q8NDW8	561
DNAJB13	ARMC2	Q8NEN0	553
DNAJB13	SPEF2	Q9C093	539
DNAJB13	RSPH9	Q9H1X1	526
DNAJB13	RSPH1	Q8WYR4	507
DNAJB13	SLC26A8	Q96RN1	506
DNAJB13	DNAAF6	Q9NQM4	505
DNAJB13	DNAH2	Q9P225	505

IntAct

40 interactions, top by confidence:

A	B	Type	Score
DNAJB13	PIBF1	psi-mi:“MI:0915”(physical association)	0.560
DNAJB13	MDFI	psi-mi:“MI:0915”(physical association)	0.560
DNAJB13	RAB3IP	psi-mi:“MI:0915”(physical association)	0.560
DNAJB13	ZC3H12A	psi-mi:“MI:0915”(physical association)	0.560
DNAJB13	LHX4	psi-mi:“MI:0915”(physical association)	0.560
DNAJB13	ZRANB1	psi-mi:“MI:0915”(physical association)	0.560
PLK4	DNAJB13	psi-mi:“MI:0915”(physical association)	0.560
TOM1L1	DNAJB13	psi-mi:“MI:0915”(physical association)	0.560
DNAJB13	MSS51	psi-mi:“MI:0915”(physical association)	0.560
DNAJB13	SEPTIN1	psi-mi:“MI:0915”(physical association)	0.560
DNAJB13	GORASP2	psi-mi:“MI:0915”(physical association)	0.560
DNAJB13	PICK1	psi-mi:“MI:0915”(physical association)	0.560
DNAJB13	PB2	psi-mi:“MI:0915”(physical association)	0.510
DNAJB13	PB2	psi-mi:“MI:0915”(physical association)	0.370
DNAJB13	PIBF1	psi-mi:“MI:0915”(physical association)	0.000
DNAJB13	MDFI	psi-mi:“MI:0915”(physical association)	0.000
DNAJB13	RAB3IP	psi-mi:“MI:0915”(physical association)	0.000
DNAJB13	ZC3H12A	psi-mi:“MI:0915”(physical association)	0.000
DNAJB13	PICK1	psi-mi:“MI:0915”(physical association)	0.000
DNAJB13	LHX4	psi-mi:“MI:0915”(physical association)	0.000
DNAJB13	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000
DNAJB13	PLK4	psi-mi:“MI:0915”(physical association)	0.000
DNAJB13	TOM1L1	psi-mi:“MI:0915”(physical association)	0.000
DNAJB13	MSS51	psi-mi:“MI:0915”(physical association)	0.000
SEPTIN1	DNAJB13	psi-mi:“MI:0915”(physical association)	0.000
DNAJB13	GORASP2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (47): DNAJB13 (Two-hybrid), DNAJB13 (Two-hybrid), DNAJB13 (Two-hybrid), DNAJB13 (Two-hybrid), DNAJB13 (Two-hybrid), DNAJB13 (Two-hybrid), DNAJB13 (Two-hybrid), DNAJB13 (Two-hybrid), DNAJB13 (Two-hybrid), DNAJB13 (Two-hybrid), DNAJB13 (Two-hybrid), DNAJB13 (Two-hybrid), ANP32B (Affinity Capture-MS), PTGES3 (Affinity Capture-MS), SUGT1 (Affinity Capture-MS)

ESM2 similar proteins: A6QBG7, B9FHF3, O35824, O60884, O74752, O75953, O89114, O94625, O94657, P25294, P25303, P25491, P25685, P42824, P42825, P43644, P59910, P78004, P81999, Q03363, Q04960, Q09912, Q0JB88, Q24133, Q2HJ94, Q2KIT4, Q3AQP5, Q3MI00, Q3ZBA6, Q54ED3, Q5BIP8, Q5R8J8, Q5RAJ6, Q626I7, Q6MNG0, Q6TUG0, Q8A8C3, Q8GWW8, Q8MPX3, Q8TA83

Diamond homologs: A0LJ41, A1K4C4, A1V9Q3, A4JBS2, A5EYE5, A5IIT4, A6LJ63, A6Q486, A6QBG7, A7I2G3, A9IGC5, B0B7R0, B0BBX5, B1LCI2, B1ZUS0, B2UBP2, B3CP03, B3QPW8, B4S9D0, B7IFE0, B8DQW8, B9KAB9, C1DD87, O35723, O54946, O75190, O75953, O84345, O89114, P25491, P25685, P25686, P31689, P42824, P47265, P59910, P63036, P63037, P78004, Q04960

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	9
Likely pathogenic	4
Uncertain significance	73
Likely benign	71
Benign	57

Top pathogenic / likely-pathogenic (13)

Variant ID	HGVS	Classification
1805029	NM_153614.4(DNAJB13):c.92_95delinsGAG (p.His31fs)	Pathogenic
2076101	NM_153614.4(DNAJB13):c.98del (p.Pro33fs)	Pathogenic
253328	NM_153614.4(DNAJB13):c.833T>G (p.Met278Arg)	Pathogenic
253329	NM_153614.4(DNAJB13):c.68+1G>C	Pathogenic
3621175	NM_153614.4(DNAJB13):c.406C>T (p.Gln136Ter)	Pathogenic
3681557	NC_000011.10:g.73964876AG[1]	Pathogenic
4719893	NM_153614.4(DNAJB13):c.421G>T (p.Glu141Ter)	Pathogenic
4764625	NM_153614.4(DNAJB13):c.391C>T (p.Arg131Ter)	Pathogenic
4798695	NM_153614.4(DNAJB13):c.562del (p.Trp188fs)	Pathogenic
2710385	NM_153614.4(DNAJB13):c.720+2T>C	Likely pathogenic
2752096	NM_153614.4(DNAJB13):c.335-2A>G	Likely pathogenic
2961411	NM_153614.4(DNAJB13):c.172+1G>A	Likely pathogenic
3064827	NM_153614.4(DNAJB13):c.493-1G>A	Likely pathogenic

SpliceAI

1628 predictions. Top by Δscore:

Variant	Effect	Δscore
11:73958421:G:GG	donor_gain	1.0000
11:73958425:G:GG	donor_gain	1.0000
11:73964877:GA:G	acceptor_gain	1.0000
11:73965031:GAAGG:G	donor_gain	1.0000
11:73965034:GG:G	donor_gain	1.0000
11:73965035:GG:G	donor_gain	1.0000
11:73966132:CTATA:C	acceptor_loss	1.0000
11:73966133:TATAG:T	acceptor_loss	1.0000
11:73966134:ATAGG:A	acceptor_loss	1.0000
11:73966135:TAGG:T	acceptor_loss	1.0000
11:73966137:G:GT	acceptor_loss	1.0000
11:73966240:G:GT	donor_gain	1.0000
11:73966241:A:T	donor_gain	1.0000
11:73968254:A:AG	acceptor_gain	1.0000
11:73968255:G:GG	acceptor_gain	1.0000
11:73968459:GTGA:G	donor_loss	1.0000
11:73968460:T:A	donor_loss	1.0000
11:73969323:G:GG	donor_gain	1.0000
11:73969959:A:AG	acceptor_gain	1.0000
11:73969960:G:GG	acceptor_gain	1.0000
11:73969960:GC:G	acceptor_gain	1.0000
11:73969960:GCCCC:G	acceptor_gain	1.0000
11:73958313:CCA:C	acceptor_loss	0.9900
11:73958314:CA:C	acceptor_loss	0.9900
11:73958315:A:AT	acceptor_loss	0.9900
11:73958387:C:T	donor_gain	0.9900
11:73958399:GCC:G	donor_gain	0.9900
11:73958411:C:G	donor_gain	0.9900
11:73958423:GA:G	donor_gain	0.9900
11:73958653:G:GT	donor_gain	0.9900

AlphaMissense

2103 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:73970032:T:C	L290P	0.997
11:73966184:T:C	L180P	0.996
11:73969992:G:T	G277W	0.996
11:73968413:G:C	R225S	0.995
11:73968413:G:T	R225S	0.995
11:73968427:T:C	L230P	0.995
11:73969992:G:A	G277R	0.995
11:73969992:G:C	G277R	0.995
11:73968406:T:C	F223S	0.994
11:73969289:G:C	R255P	0.994
11:73969993:G:A	G277E	0.994
11:73965014:A:C	K157N	0.993
11:73965014:A:T	K157N	0.993
11:73969250:T:C	L242P	0.993
11:73970025:G:T	G288W	0.993
11:73958399:G:C	A51P	0.992
11:73966231:T:C	F196L	0.992
11:73966233:T:A	F196L	0.992
11:73966233:T:G	F196L	0.992
11:73969246:G:C	A241P	0.992
11:73969976:G:C	K271N	0.992
11:73969976:G:T	K271N	0.992
11:73958331:C:A	A28D	0.991
11:73958412:T:C	L55P	0.991
11:73966205:G:A	G187D	0.991
11:73969996:T:C	M278T	0.991
11:73951136:G:C	A23P	0.990
11:73958318:T:G	Y24D	0.990
11:73958322:G:C	R25P	0.990
11:73958412:T:A	L55Q	0.990

dbSNP variants (sampled 300 via entrez): RS1000419861 (11:73950983 C>T), RS1001106909 (11:73962466 C>T), RS1001108440 (11:73952617 G>T), RS1001309024 (11:73962743 C>A), RS1001348200 (11:73956577 C>A,G,T), RS1001818192 (11:73949436 T>G), RS1001854937 (11:73962241 C>G,T), RS1001883040 (11:73954737 C>G), RS1001919730 (11:73963361 AAAAG>A), RS1002518507 (11:73967086 C>G), RS1002906795 (11:73959911 C>T), RS1003116009 (11:73965704 C>A), RS1003295354 (11:73954450 G>A), RS1003324599 (11:73950105 A>G), RS1003579085 (11:73954274 C>T)

Disease associations

OMIM: gene MIM:610263 | disease phenotypes: MIM:617091, MIM:189800, MIM:244400

GenCC curated gene-disease

Disease	Classification	Inheritance
primary ciliary dyskinesia 34	Strong	Autosomal recessive
primary ciliary dyskinesia	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
primary ciliary dyskinesia 34	Moderate	AR

Mondo (3): primary ciliary dyskinesia 34 (MONDO:0014909), preeclampsia (MONDO:0005081), primary ciliary dyskinesia (MONDO:0016575)

Orphanet (2): Primary ciliary dyskinesia (Orphanet:244), Preeclampsia (Orphanet:275555)

HPO phenotypes

54 total (30 of 54 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000119	Abnormality of the genitourinary system
HP:0000238	Hydrocephalus
HP:0000365	Hearing impairment
HP:0000389	Chronic otitis media
HP:0000403	Recurrent otitis media
HP:0000405	Conductive hearing impairment
HP:0000510	Rod-cone dystrophy
HP:0000750	Delayed speech and language development
HP:0000924	Abnormality of the skeletal system
HP:0001217	Clubbing
HP:0001627	Abnormal heart morphology
HP:0001669	Transposition of the great arteries
HP:0001696	Situs inversus totalis
HP:0001719	Double outlet right ventricle
HP:0001742	Nasal congestion
HP:0001746	Asplenia
HP:0001748	Polysplenia
HP:0002011	Morphological central nervous system abnormality
HP:0002110	Bronchiectasis
HP:0002119	Ventriculomegaly
HP:0002257	Chronic rhinitis
HP:0002566	Intestinal malrotation
HP:0002643	Neonatal respiratory distress
HP:0002837	Recurrent bronchitis
HP:0002878	Respiratory failure
HP:0003251	Male infertility
HP:0005301	Persistent left superior vena cava
HP:0005425	Recurrent sinopulmonary infections
HP:0006536	Airway obstruction

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST005760_4	Dimensional psychopathology (Cognitive)	2.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009098	cognitive domain measurement

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D002925	Ciliary Motility Disorders	C08.200; C09.150; C16.131.077.245.500; C16.320.184.500
D007619	Kartagener Syndrome	C08.127.384.500; C08.200.531; C08.695.501; C09.150.531; C14.240.400.280.500; C14.280.400.280.500; C16.131.077.245.500.531; C16.131.240.400.280.500; C16.131.740.501; C16.131.810.250.500; C16.320.184.500.531; C16.320.480
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)

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs655717	DNAJB13, UCP2		0.00	0

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases methylation	2
Smoke	increases abundance, increases expression, decreases expression	2
Aflatoxin B1	affects methylation, increases methylation	2
triphenyl phosphate	affects expression	1
sulforaphane	increases expression	1
nickel chloride	increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
bisphenol S	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Caffeine	increases phosphorylation	1
Ivermectin	decreases expression	1
Methapyrilene	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
Vanadium	increases abundance, increases methylation	1
Metals, Heavy	increases methylation, increases abundance	1

Clinical trials (associated diseases)

371 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