RECQL4

Summary

RECQL4 (RecQ like helicase 4, HGNC:9949) is a protein-coding gene on chromosome 8q24.3, encoding ATP-dependent DNA helicase Q4 (O94761). An ATP-dependent DNA helicase which unwinds dsDNA with a 3’-overhang in a 3’-5’ direction.

The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes.

Source: NCBI Gene 9401 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Rothmund-Thomson syndrome (Definitive, ClinGen) — +6 more curated relationships
• GWAS associations: 4
• Clinical variants (ClinVar): 5,153 total — 276 pathogenic, 68 likely-pathogenic
• Phenotypes (HPO): 215
• Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 1 cancer types
• MANE Select transcript: NM_004260

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9949
Approved symbol	RECQL4
Name	RecQ like helicase 4
Location	8q24.3
Locus type	gene with protein product
Status	Approved
Aliases	RecQ4
Ensembl gene	ENSG00000160957
Ensembl biotype	protein_coding
OMIM	603780
Entrez	9401

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 10 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000301323, ENST00000524998, ENST00000529424, ENST00000531875, ENST00000532846, ENST00000534270, ENST00000534538, ENST00000534626, ENST00000617875, ENST00000621189, ENST00000688394, ENST00000887977, ENST00000922086, ENST00000922087, ENST00000971710

RefSeq mRNA: 27 — MANE Select: NM_004260 NM_001413017, NM_001413018, NM_001413019, NM_001413020, NM_001413021, NM_001413022, NM_001413023, NM_001413024, NM_001413025, NM_001413027, NM_001413028, NM_001413029, NM_001413030, NM_001413031, NM_001413032, NM_001413033, NM_001413034, NM_001413035, NM_001413036, NM_001413037, NM_001413038, NM_001413039, NM_001413040, NM_001413041, NM_001413042, NM_001413043, NM_004260

CCDS: CCDS75804

Canonical transcript exons

ENST00000617875 — 21 exons

Exon	Start	End
ENSE00003497080	144512847	144513138
ENSE00003577229	144515764	144515890
ENSE00003627709	144512392	144512561
ENSE00003645517	144512642	144512771
ENSE00003703912	144515326	144515457
ENSE00003706019	144514189	144514362
ENSE00003706081	144513928	144514107
ENSE00003706299	144517050	144517190
ENSE00003706451	144514442	144514525
ENSE00003709211	144512144	144512324
ENSE00003710143	144515150	144515242
ENSE00003716048	144517701	144517833
ENSE00003720833	144514936	144515072
ENSE00003722249	144517414	144517508
ENSE00003726054	144517602	144517635
ENSE00003730309	144515988	144516764
ENSE00003744392	144511681	144511789
ENSE00003746399	144513218	144513480
ENSE00003748671	144511911	144512067
ENSE00003789763	144513571	144513712
ENSE00003901898	144511288	144511555

Expression profiles

Bgee: expression breadth ubiquitous, 212 present calls, max score 97.70.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.8112 / max 166.4055, expressed in 1422 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
95693	10.1137	1203
95692	2.1749	628
95694	1.5227	756

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	97.70	gold quality
ventricular zone	UBERON:0003053	92.85	gold quality
mucosa of transverse colon	UBERON:0004991	92.62	gold quality
right testis	UBERON:0004534	92.29	gold quality
left testis	UBERON:0004533	91.73	gold quality
right hemisphere of cerebellum	UBERON:0014890	90.12	gold quality
ganglionic eminence	UBERON:0004023	90.05	gold quality
cerebellar hemisphere	UBERON:0002245	89.42	gold quality
cerebellar cortex	UBERON:0002129	89.09	gold quality
testis	UBERON:0000473	88.53	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.44	gold quality
endometrium epithelium	UBERON:0004811	88.04	gold quality
cerebellum	UBERON:0002037	86.49	gold quality
esophagus mucosa	UBERON:0002469	85.10	gold quality
right frontal lobe	UBERON:0002810	84.70	gold quality
cortical plate	UBERON:0005343	83.87	gold quality
transverse colon	UBERON:0001157	83.71	gold quality
stromal cell of endometrium	CL:0002255	83.08	gold quality
esophagus	UBERON:0001043	82.35	gold quality
putamen	UBERON:0001874	81.42	gold quality
embryo	UBERON:0000922	81.41	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.31	gold quality
caudate nucleus	UBERON:0001873	81.22	gold quality
tendon of biceps brachii	UBERON:0008188	81.20	silver quality
small intestine Peyer’s patch	UBERON:0003454	80.92	gold quality
Brodmann (1909) area 9	UBERON:0013540	80.62	gold quality
nucleus accumbens	UBERON:0001882	80.51	gold quality
muscle layer of sigmoid colon	UBERON:0035805	80.49	gold quality
metanephros cortex	UBERON:0010533	80.44	gold quality
right lobe of thyroid gland	UBERON:0001119	80.34	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-GEOD-99795	no	77.81
E-ANND-3	no	2.93

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1, HDAC1, SP1, TFAP2A, TP53

miRNA regulators (miRDB)

3 targeting RECQL4, 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-20A-3P	99.44	69.10	1575
HSA-MIR-4736	97.96	65.89	1287
HSA-MIR-4778-5P	97.96	68.06	1634

Literature-anchored findings (GeneRIF, showing 40)

• The RECQL4 gene structure is unusual because it contains many small introns <100 bp. We describe a proband with Rothmund-Thomson syndrome who has a novel 11-bp intronic deletion; this mutation results in a 66-bp intron too small for proper splicing. (PMID:12016592)
• Two novel exonic single nucleotiude polymorphisms and a minisatellite repeat are characterized. (PMID:12601557)
• RECQL4 mutations were not found in poikiloderma with neutropenia in Navajo and non-Navajo patients (PMID:12673665)
• RECQL4 gene is not a frequent target for somatic mutations in sporadic osteosarcoma. (PMID:15221963)
• RECQL4 from HeLa cells interacts with ubiquitin ligases UBR1 and UBR2. (PMID:15317757)
• The human diseases connected with RECQL4 mutations appear distinct in their clinical phenotypes from Bloom or Werner’s symdrome. (PMID:15960976)
• Baller-Gerold syndrome (BGS) in a subgroup of patients is due to RECQL4 mutations and could be integrated into a clinical spectrum that encompasses Rothmund-Thomson syndrome (RTS) and RAPADILINO syndrome. (PMID:15964893)
• Findings suggest a role for RECQL4 in the repair of DNA double-strand breaks by homologous recombination and shed new light onto RECQL4’s function in human cells. (PMID:16141230)
• RECQ4 lacks a detectable DNA helicase activity and is mutated in Rothmund-Thomson syndrome (PMID:16214424)
• It is especially difficult to draw precise genotype-phenotype correlations in RECQL4 related syndromes. This is likely due to the complex and multiple cellular networks RECQL4 is associated with. (PMID:16617241)
• These results suggest that enhanced oxidant sensitivity in RECQL4 deficient fibroblasts derived from RTS patients could be attributed to abnormal DNA metabolism and proliferation failure. (PMID:16678792)
• These results demonstrate changes in the intracellular localization of RECQL4 in response to oxidative stress and identify an interaction between RECQL4 and PARP-1 (PMID:16949575)
• RecQL4 may have a unique role in replication fork arrest. (PMID:17184169)
• A greater role for the RECQL4 protein in DNA replication as opposed to repair of exogenous damage. (PMID:18504617)
• RECQL4 polymorphisms and mutations are associated with Rothmund-Thomson Syndrome. (PMID:18616953)
• genotype-phenotype analysis showed a significant correlation between RECQL4 mutational status and the presence of skeletal abnormalities (p < 0.0001) in Rothmund-Thomson syndrome patients (PMID:18647888)
• RecQ4 has a role in the repair of UV-induced DNA damages in human cells (PMID:18693251)
• Study reports that RAPADILINO patients identified as carriers of the c.1390+2delT mutation (p.Ala420_Ala463del) are at increased risk to develop lymphoma or osteosarcoma (6 out of 15 patients). (PMID:18716613)
• RECQ4 exhibits DNA helicase activity. Importantly, two distinct regions of the protein, the conserved helicase motifs and the Sld2-like N-terminal domain, each independently promote ATP-dependent DNA unwinding. (PMID:19177149)
• All osteosarcomas overexpressed RECQL4 in comparison to controls (PMID:19242607)
• p300-mediated acetylation of the Rothmund-Thomson-syndrome gene product RECQL4 regulates its subcellular localization. (PMID:19299466)
• Purified hRECQL4 protein (expressed in an insect expression system) is associated with both DNA helicase activity and single-stranded DNA-dependent ATPase activity. (PMID:19451148)
• RECQL4 specifically stimulates the apurinic endonuclease activity of APE1, the DNA strand displacement activity of DNA polymerase beta, and incision of a 1- or 10-nucleotide flap DNA substrate by Flap Endonuclease I. (PMID:19567405)
• MCM10 interacts directly with RECQ4 and regulates its DNA unwinding activity. (PMID:19696745)
• Assembly of the Cdc45-Mcm2-7-GINS complex requires the Ctf4/And-1, RecQL4, and Mcm10 proteins. (PMID:19805216)
• These results indicate that RECQ1 and RECQ4 are integral components of the human replication complex and play distinct roles in DNA replication initiation and replication fork progression in vivo. (PMID:20065033)
• shows that RECQL4 is recruited early to laser-induced double-strand breaks and remains for a shorter duration than WRN and BLM (PMID:20222902)
• Together, these data indicate that specific biochemical activities and protein partners of RecQ4 are conserved with those of the other RecQ helicases. (PMID:20451470)
• Study shows that RecQL4 is an essential factor for prostate carcinogenesis. (PMID:21045146)
• The N-terminal domain of RECQL4 is sufficient for cell viability. The C-terminal region including the helicase domain of RECQL4 is implicated in DNA repair. (PMID:21256165)
• RecQL4, the N-terminal portion of which shares similarity with Sld2 known to be required for assembly of a replication complex in yeasts, is unique in that it has been shown to be essential for the initiation phase of normal DNA replication. (PMID:21436139)
• Single Nucleotide Polymorphisms in RECQL4 gene is associated with glioblastoma. (PMID:22017238)
• function of RECQL4 in telomere maintenance (PMID:22039056)
• Measurements of mitochondrial bioenergetics showed a reduction in the mitochondrial reserve capacity after lentiviral knockdown of RECQL4 in two different primary cell lines. (PMID:22296597)
• RECQL4 is essential for the transport of p53 to mitochondria. (PMID:22357944)
• study concludes that the function of the RecQ helicases has diverged during evolution, with RecQL4 acquiring a function that allows cells to negotiate DNA replication templates that have been damaged by ionizing radiation (PMID:22508716)
• BLM and RECQL4 interact physically and functionally in vivo and in vitro. (PMID:22544709)
• Despite low-sequence homology, the N-terminus of the human RecQL4 helicase was determined to be a well-defined structure that carries an overall helical fold similar to homeodomain DNA-binding proteins but lacks their archetypical, minor groove-binding N-terminal extension. (PMID:22730300)
• Nuclear exporting signals -mediated RecQL4 export to the cytoplasm is essential for the maintenance of mitochondrial genome stability. (PMID:22824301)
• These observations help explain the underlying molecular etiology of the disease and our findings provide insight into the genotype and phenotype association among RECQL4 syndromes (PMID:22885111)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	recql4	ENSDARG00000077516
mus_musculus	Recql4	ENSMUSG00000033762
rattus_norvegicus	Recql4	ENSRNOG00000032446
drosophila_melanogaster	RecQ4	FBGN0040290

Paralogs (4): RECQL (ENSG00000004700), RECQL5 (ENSG00000108469), WRN (ENSG00000165392), BLM (ENSG00000197299)

Protein

Protein identifiers

ATP-dependent DNA helicase Q4 — O94761 (reviewed: O94761)

Alternative names: DNA 3’-5’ helicase RecQ4, DNA helicase, RecQ-like type 4, RTS, RecQ protein-like 4

All UniProt accessions (8): O94761, A0A087WTJ0, A0A087X072, V9GY28, V9GY60, V9GYA3, V9GYB6, V9GZ64

UniProt curated annotations — full annotation on UniProt →

Function. An ATP-dependent DNA helicase which unwinds dsDNA with a 3’-overhang in a 3’-5’ direction. Does not unwind more than 18 bp of dsDNA. May modulate chromosome segregation. The N-terminal domain (residues 1-54) binds DNA Y-shaped DNA better than ss- or dsDNA. The core helicase domain binds ssDNA.

Subunit / interactions. Interacts with UBR1 and UBR2. Interacts with MCM10; this interaction regulates RECQL4 unwinding activity. Interacts (via residues 1-54) with TOPBP1.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Ubiquitously expressed, with highest levels in thymus and testis.

Disease relevance. RAPADILINO syndrome (RAPADILINOS) [MIM:266280] Disease characterized by radial and patellar aplasia or hypoplasia. The disease is caused by variants affecting the gene represented in this entry. Baller-Gerold syndrome (BGS) [MIM:218600] An autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals, metacarpals and phalanges. Some patients manifest poikiloderma. Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome. The disease is caused by variants affecting the gene represented in this entry. Rothmund-Thomson syndrome 2 (RTS2) [MIM:268400] A form of Rothmund-Thomson syndrome, a disorder characterized by sparse hair, eyebrows and eyelashes, juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dysplastic nails, and skeletal and dental abnormalities. RTS2 is an autosomal recessive form frequently accompanied by an increased risk of osteosarcoma in childhood and skin cancer later in life. The disease is caused by variants affecting the gene represented in this entry.

Cofactor. Binds a Zn(2+) ion per subunit.

Induction. Up-regulated in actively dividing cells.

Similarity. Belongs to the helicase family. RecQ subfamily.

RefSeq proteins (27): NP_001399946, NP_001399947, NP_001399948, NP_001399949, NP_001399950, NP_001399951, NP_001399952, NP_001399953, NP_001399954, NP_001399956, NP_001399957, NP_001399958, NP_001399959, NP_001399960, NP_001399961, NP_001399962, NP_001399963, NP_001399964, NP_001399965, NP_001399966, NP_001399967, NP_001399968, NP_001399969, NP_001399970, NP_001399971, NP_001399972, NP_004251* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001650	Helicase_C-like	Domain
IPR004589	DNA_helicase_ATP-dep_RecQ	Family
IPR011545	DEAD/DEAH_box_helicase_dom	Domain
IPR014001	Helicase_ATP-bd	Domain
IPR021110	DNA_rep_checkpnt_protein	Family
IPR027417	P-loop_NTPase	Homologous_superfamily

Pfam: PF00270, PF00271, PF11719

Enzyme classification (BRENDA):

• EC 3.6.4.12 — DNA helicase (BRENDA: 0 organisms, 0 substrates, 0 inhibitors, 0 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 1 shown:

• ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)

UniProt features (119 total): sequence variant 33, helix 29, strand 23, turn 8, binding site 5, region of interest 5, mutagenesis site 5, compositionally biased region 4, modified residue 3, domain 2, chain 1, short sequence motif 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
5LST	X-RAY DIFFRACTION	2.75
2KMU	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O94761-F1	68.32	0.33

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 (5): 502–509; 853; 855; 897; 900

Post-translational modifications (3): 27, 178, 180

Mutagenesis-validated functional residues (5):

Position	Phenotype
508	no helicase activity (in a fragment of residues 427-1208).
605	no helicase activity (in a fragment of residues 427-1208).
618	loss of helicase activity, 20% atpase activity (in a fragment of residues 427-1208).
944–1032	about 50% reduction in helicase velocity (in a fragment of residues 427-1208).
1117–1208	decreases helicase activity 5-fold, decreased ssdna-binding (in a fragment of residues 427-1208).

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 567 (showing top): GOBP_CHROMOSOME_ORGANIZATION, FISCHER_G1_S_CELL_CYCLE, ENK_UV_RESPONSE_KERATINOCYTE_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_TELOMERE_ORGANIZATION, KAUFFMANN_DNA_REPAIR_GENES, PATIL_LIVER_CANCER, PUJANA_CHEK2_PCC_NETWORK, MODULE_118, MUELLER_PLURINET, DOANE_RESPONSE_TO_ANDROGEN_DN, BILD_E2F3_ONCOGENIC_SIGNATURE, GOBP_DNA_DAMAGE_RESPONSE, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP

GO Biological Process (7): telomere maintenance (GO:0000723), double-strand break repair via homologous recombination (GO:0000724), DNA replication (GO:0006260), DNA repair (GO:0006281), telomeric D-loop disassembly (GO:0061820), DNA recombination (GO:0006310), chromosome organization (GO:0051276)

GO Molecular Function (17): bubble DNA binding (GO:0000405), helicase activity (GO:0004386), ATP binding (GO:0005524), four-way junction helicase activity (GO:0009378), ATP hydrolysis activity (GO:0016887), oxidized purine DNA binding (GO:0032357), metal ion binding (GO:0046872), telomeric D-loop binding (GO:0061821), DNA/DNA annealing activity (GO:1990814), nucleotide binding (GO:0000166), nucleic acid binding (GO:0003676), DNA binding (GO:0003677), protein binding (GO:0005515), hydrolase activity (GO:0016787), isomerase activity (GO:0016853), catalytic activity, acting on DNA (GO:0140097), catalytic activity, acting on a nucleic acid (GO:0140640)

GO Cellular Component (6): chromosome, telomeric region (GO:0000781), nucleus (GO:0005634), nucleoplasm (GO:0005654), chromosome (GO:0005694), cytoplasm (GO:0005737), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA metabolic process	4
catalytic activity	3
cellular anatomical structure	3
catalytic activity, acting on a nucleic acid	2
ATP-dependent activity	2
binding	2
telomere organization	1
recombinational repair	1
double-strand break repair	1
DNA biosynthetic process	1
DNA damage response	1
telomeric loop disassembly	1
organelle organization	1
DNA secondary structure binding	1
nucleic acid conformation isomerase activity	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
DNA helicase activity	1
ribonucleoside triphosphate phosphatase activity	1
oxidized DNA binding	1
cation binding	1
D-loop DNA binding	1
single-stranded DNA binding	1
catalytic activity, acting on DNA	1
annealing activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
nucleic acid binding	1
chromosomal region	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular membraneless organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

4671 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RECQL4	MCM10	Q7L590	962
RECQL4	TICRR	Q7Z2Z1	958
RECQL4	FEN1	P39748	956
RECQL4	TOPBP1	Q92547	939
RECQL4	CDC45	O75419	931
RECQL4	XPA	P23025	918
RECQL4	UBR2	Q8IWV8	917
RECQL4	USB1	Q9BQ65	912
RECQL4	UBR1	Q8IWV7	865
RECQL4	RAD51	Q06609	855
RECQL4	APEX1	P27695	842
RECQL4	DNA2	P51530	813
RECQL4	ATM	Q13315	793
RECQL4	EXO1	Q9UQ84	782
RECQL4	TOP3A	Q13472	772

IntAct

101 interactions, top by confidence:

A	B	Type	Score
RFXANK	RFXAP	psi-mi:“MI:0914”(association)	0.780
NEUROG3	GXYLT2	psi-mi:“MI:0914”(association)	0.640
VWCE	ZNF316	psi-mi:“MI:0914”(association)	0.530
N	RBM47	psi-mi:“MI:0914”(association)	0.530
FBL	ZNF316	psi-mi:“MI:0914”(association)	0.530
KCTD17	CBX4	psi-mi:“MI:0914”(association)	0.530
ZNF764	SH3PXD2B	psi-mi:“MI:0914”(association)	0.530
ZNRD2	MYO9A	psi-mi:“MI:0914”(association)	0.530
PTGES3	AIP	psi-mi:“MI:0914”(association)	0.530
PRKAG3	PFDN6	psi-mi:“MI:0914”(association)	0.530
NOTCH2	ZNF316	psi-mi:“MI:0914”(association)	0.530
PNMA2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
TERF1	RECQL4	psi-mi:“MI:0915”(physical association)	0.510
PPP2R2B	DDX3X	psi-mi:“MI:0914”(association)	0.460
RAD51	RECQL4	psi-mi:“MI:0915”(physical association)	0.400
RECQL4	PLEC	psi-mi:“MI:0915”(physical association)	0.400
Recql4	RECQL4	psi-mi:“MI:0915”(physical association)	0.400
TERF2IP	RECQL4	psi-mi:“MI:0915”(physical association)	0.370
ACD	RECQL4	psi-mi:“MI:0915”(physical association)	0.370
POT1	RECQL4	psi-mi:“MI:0915”(physical association)	0.370
ARHGAP25	UBA6	psi-mi:“MI:0914”(association)	0.350
FBL	GXYLT2	psi-mi:“MI:0914”(association)	0.350
NLGN3	TMEM131L	psi-mi:“MI:0914”(association)	0.350
CDC16	KRBA1	psi-mi:“MI:0914”(association)	0.350
P4HA2	CCDC85C	psi-mi:“MI:0914”(association)	0.350
KCTD17	CBX4	psi-mi:“MI:0914”(association)	0.350
SKAP1	MYO9A	psi-mi:“MI:0914”(association)	0.350
LZTS2	MYO9A	psi-mi:“MI:0914”(association)	0.350

BioGRID (1558): RECQL4 (Affinity Capture-MS), RECQL4 (Affinity Capture-MS), RECQL4 (Affinity Capture-MS), RECQL4 (Affinity Capture-MS), RECQL4 (Affinity Capture-MS), RECQL4 (Affinity Capture-MS), RECQL4 (Affinity Capture-MS), RECQL4 (Affinity Capture-MS), RECQL4 (Affinity Capture-MS), RECQL4 (Affinity Capture-MS), RECQL4 (Affinity Capture-MS), RECQL4 (Affinity Capture-MS), RECQL4 (Affinity Capture-MS), RECQL4 (Affinity Capture-MS), RECQL4 (Affinity Capture-MS)

ESM2 similar proteins: A1L3T7, A2A3L6, A4IFI1, A7E3N7, A8MYJ7, A8VU90, O94761, O94812, O95153, O95382, P97680, Q0P5G1, Q13671, Q14154, Q3UYR4, Q4V896, Q53GL7, Q569K6, Q58CQ5, Q58EX7, Q66H85, Q6DT37, Q6F5E8, Q6ZVH7, Q76MJ5, Q7TNF8, Q7Z3H0, Q80UU1, Q80UW5, Q8BWA8, Q8BXP5, Q8BYG0, Q8CIE4, Q8CJ00, Q8IYJ3, Q8NAG6, Q8TE82, Q91WA6, Q91WE1, Q921Q7

Diamond homologs: A2XVF7, A3AVH5, A4RK80, A8WK63, D4ACP5, G2TRN7, O09053, O18017, O34748, O88700, O93530, O94761, O94762, P0CQ88, P0CQ89, P15043, P35187, P40724, P46063, P50729, P54132, P71359, P73421, Q09811, Q0WVW7, Q14191, Q19546, Q5RF63, Q5UPX0, Q6AYJ1, Q75NR7, Q7RZH4, Q8L840, Q8VID5, Q9CL21, Q9DEY9, Q9FT70, Q9FT72, Q9FT73, Q9FT74

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
UBR1	up-regulates	RECQL4	binding
UBR2	up-regulates	RECQL4	binding
MCM10	down-regulates	RECQL4	binding
RECQL4	“up-regulates activity”	DNA_repair
CDK2	“up-regulates activity”	RECQL4	phosphorylation
CDK1	“up-regulates activity”	RECQL4	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 123 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
Cellular Senescence	6	12.3×	6e-04
Meiotic synapsis	5	10.5×	4e-03
Cellular responses to stress	10	5.5×	7e-04
Cellular responses to stimuli	11	5.2×	6e-04

GO biological processes:

GO term	Partners	Fold	FDR
telomere maintenance via telomerase	5	34.2×	2e-04

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 1 cancer types — STAD.

Clinical variants and AI predictions

ClinVar

5153 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	276
Likely pathogenic	68
Uncertain significance	2781
Likely benign	1671
Benign	51

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1029808	NM_004260.4(RECQL4):c.615dup (p.Lys206fs)	Pathogenic
1065954	NM_004260.4(RECQL4):c.3236G>T (p.Ser1079Ile)	Pathogenic
1068625	NM_004260.4(RECQL4):c.652_653del (p.Gln218fs)	Pathogenic
1069365	NM_004260.4(RECQL4):c.3284_3287dup (p.Ser1097fs)	Pathogenic
1069662	NM_004260.4(RECQL4):c.897del (p.Glu301fs)	Pathogenic
1069990	NM_004260.4(RECQL4):c.3331G>T (p.Glu1111Ter)	Pathogenic
1070028	NM_004260.4(RECQL4):c.1089C>A (p.Tyr363Ter)	Pathogenic
1070092	NM_004260.4(RECQL4):c.1561del (p.Arg521fs)	Pathogenic
1070117	NM_004260.4(RECQL4):c.2631C>G (p.Tyr877Ter)	Pathogenic
1070337	NM_004260.4(RECQL4):c.2083A>T (p.Lys695Ter)	Pathogenic
1070691	NM_004260.4(RECQL4):c.988_1004del (p.Ala330fs)	Pathogenic
1070864	NC_000008.10:g.(?145738945)(145743168_?)del	Pathogenic
1070865	NC_000008.10:g.(?_145737562)_145739175del	Pathogenic
1071000	NM_004260.4(RECQL4):c.3163del (p.Leu1055fs)	Pathogenic
1071942	NM_004260.4(RECQL4):c.2096del (p.Asn699fs)	Pathogenic
1072153	NM_004260.4(RECQL4):c.670G>T (p.Glu224Ter)	Pathogenic
1072762	NM_004260.4(RECQL4):c.2092C>T (p.Gln698Ter)	Pathogenic
1072952	NM_004260.4(RECQL4):c.2026del (p.Leu676fs)	Pathogenic
1073755	NM_004260.4(RECQL4):c.1078C>T (p.Gln360Ter)	Pathogenic
1073779	NM_004260.4(RECQL4):c.3321C>G (p.Tyr1107Ter)	Pathogenic
1073983	NM_004260.4(RECQL4):c.2305del (p.Val769fs)	Pathogenic
1074685	NM_004260.4(RECQL4):c.1390+2T>C	Pathogenic
1075387	NM_004260.4(RECQL4):c.3223C>T (p.Gln1075Ter)	Pathogenic
1075388	NM_004260.4(RECQL4):c.55C>T (p.Arg19Ter)	Pathogenic
1075795	NM_004260.4(RECQL4):c.3035G>A (p.Trp1012Ter)	Pathogenic
1076095	NM_004260.4(RECQL4):c.1922_1923del (p.Thr641fs)	Pathogenic
1076587	NM_004260.4(RECQL4):c.694_707del (p.Ala232fs)	Pathogenic
1076598	NM_004260.4(RECQL4):c.1048del (p.Arg350fs)	Pathogenic
1076729	NM_004260.4(RECQL4):c.3184dup (p.Arg1062fs)	Pathogenic
1076922	NM_004260.4(RECQL4):c.3265del (p.Leu1089fs)	Pathogenic

SpliceAI

3139 predictions. Top by Δscore:

Variant	Effect	Δscore
8:144511552:CTTC:C	acceptor_gain	1.0000
8:144511675:CCTCA:C	donor_loss	1.0000
8:144511676:CTCA:C	donor_loss	1.0000
8:144511678:CACCG:C	donor_loss	1.0000
8:144511679:A:AC	donor_gain	1.0000
8:144511679:A:AT	donor_loss	1.0000
8:144511680:C:CC	donor_gain	1.0000
8:144511787:GAG:G	acceptor_gain	1.0000
8:144511788:AG:A	acceptor_gain	1.0000
8:144511789:GCTG:G	acceptor_loss	1.0000
8:144511790:C:CC	acceptor_gain	1.0000
8:144511792:G:C	acceptor_gain	1.0000
8:144511792:G:GC	acceptor_gain	1.0000
8:144511900:A:AC	donor_gain	1.0000
8:144511901:C:CC	donor_gain	1.0000
8:144511901:CTGCA:C	donor_gain	1.0000
8:144511909:A:AC	donor_gain	1.0000
8:144511910:C:CC	donor_gain	1.0000
8:144511910:CT:C	donor_gain	1.0000
8:144511942:T:TA	donor_gain	1.0000
8:144511969:T:A	donor_gain	1.0000
8:144511975:T:TA	donor_gain	1.0000
8:144512063:CTACG:C	acceptor_gain	1.0000
8:144512066:CG:C	acceptor_gain	1.0000
8:144512068:C:CC	acceptor_gain	1.0000
8:144512640:A:AC	donor_gain	1.0000
8:144512640:A:C	donor_loss	1.0000
8:144512641:C:CA	donor_loss	1.0000
8:144512641:C:CC	donor_gain	1.0000
8:144512769:TGG:T	acceptor_gain	1.0000

AlphaMissense

7747 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:144514250:T:A	E606V	0.996
8:144514265:A:G	F601S	0.992
8:144514258:G:C	C603W	0.989
8:144514262:G:T	A602D	0.989
8:144513401:G:C	F760L	0.988
8:144513401:G:T	F760L	0.988
8:144513403:A:G	F760L	0.988
8:144514264:A:C	F601L	0.988
8:144514264:A:T	F601L	0.988
8:144514266:A:G	F601L	0.988
8:144514253:T:A	D605V	0.987
8:144514250:T:G	E606A	0.986
8:144514216:G:C	F617L	0.985
8:144514216:G:T	F617L	0.985
8:144514218:A:G	F617L	0.985
8:144514970:A:T	V529D	0.985
8:144514253:T:G	D605A	0.984
8:144514260:A:G	C603R	0.984
8:144513239:G:C	C814W	0.982
8:144514067:A:G	L640P	0.982
8:144514256:A:T	I604N	0.982
8:144515066:G:A	S497F	0.982
8:144515191:A:G	F481S	0.982
8:144513402:A:G	F760S	0.981
8:144515190:A:C	F481L	0.981
8:144515190:A:T	F481L	0.981
8:144515192:A:G	F481L	0.981
8:144511551:G:C	S1169R	0.980
8:144511551:G:T	S1169R	0.980
8:144511553:T:G	S1169R	0.980

dbSNP variants (sampled 300 via entrez): RS1000281324 (8:144513003 C>A,G,T), RS1000338840 (8:144517883 CCGGGGG>C), RS1000972788 (8:144518579 G>T), RS1001013778 (8:144518014 G>A), RS1001434106 (8:144516428 C>T), RS1001801628 (8:144516577 T>C), RS1001894022 (8:144517756 C>A,G,T), RS1002397552 (8:144515834 T>A,C), RS1002430382 (8:144515693 T>A,C,G), RS1003029779 (8:144514127 GGT>G), RS1003210065 (8:144514145 C>A,T), RS1003500353 (8:144511407 C>A,T), RS1004216290 (8:144518043 T>C), RS1004279093 (8:144512566 G>A), RS1004394987 (8:144515042 C>G,T)

Disease associations

OMIM: gene MIM:603780 | disease phenotypes: MIM:218600, MIM:266280, MIM:268400, MIM:167000, MIM:607174, MIM:130000, MIM:114480, MIM:254500

GenCC curated gene-disease

Disease	Classification	Inheritance
Rothmund-Thomson syndrome	Definitive	Autosomal recessive
Rothmund-Thomson syndrome type 2	Definitive	Autosomal recessive
Baller-Gerold syndrome	Definitive	Autosomal recessive
osteosarcoma	Strong	Autosomal recessive
rapadilino syndrome	Strong	Autosomal recessive
RECON progeroid syndrome	Limited	Autosomal recessive
congenital heart disease	No Known Disease Relationship	Autosomal dominant

ClinGen Gene-Disease Validity (2)

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

Disease	Classification	Inheritance
congenital heart disease	No Known Disease Relationship	AD
Rothmund-Thomson syndrome	Definitive	AR

Mondo (17): Baller-Gerold syndrome (MONDO:0009039), hereditary neoplastic syndrome (MONDO:0015356), rapadilino syndrome (MONDO:0009955), Rothmund-Thomson syndrome type 2 (MONDO:0016369), ovarian cancer (MONDO:0008170), Rothmund-Thomson syndrome (MONDO:0010002), hepatoblastoma (MONDO:0018666), familial meningioma (MONDO:0011789), congenital heart disease (MONDO:0005453), breast cancer (MONDO:0007254), Ehlers-Danlos syndrome (MONDO:0020066), hereditary breast carcinoma (MONDO:0016419), high grade surface osteosarcoma (MONDO:0006246), undifferentiated pleomorphic sarcoma (MONDO:0002142), plasma cell myeloma (MONDO:0009693)

Orphanet (13): Baller-Gerold syndrome (Orphanet:1225), Inherited cancer-predisposing syndrome (Orphanet:140162), Rothmund-Thomson syndrome type 2 (Orphanet:221016), RAPADILINO syndrome (Orphanet:3021), Rare ovarian cancer (Orphanet:213500), Rothmund-Thomson syndrome (Orphanet:2909), Hepatoblastoma (Orphanet:449), Familial multiple meningioma (Orphanet:263662), Ehlers-Danlos syndrome (Orphanet:98249), Hereditary breast cancer (Orphanet:227535), Undifferentiated pleomorphic sarcoma (Orphanet:2023), Multiple myeloma (Orphanet:29073), AL amyloidosis (Orphanet:85443)

HPO phenotypes

215 total (30 of 215 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000069	Abnormality of the ureter
HP:0000076	Vesicoureteral reflux
HP:0000077	Abnormality of the kidney
HP:0000126	Hydronephrosis
HP:0000135	Hypogonadism
HP:0000143	Rectovaginal fistula
HP:0000160	Narrow mouth
HP:0000164	Abnormality of the dentition
HP:0000175	Cleft palate
HP:0000193	Bifid uvula
HP:0000218	High palate
HP:0000233	Thin vermilion border
HP:0000238	Hydrocephalus
HP:0000239	Large fontanelles
HP:0000244	Brachyturricephaly
HP:0000248	Brachycephaly
HP:0000260	Wide anterior fontanel
HP:0000262	Turricephaly
HP:0000263	Oxycephaly
HP:0000275	Narrow face
HP:0000276	Long face
HP:0000282	Facial edema
HP:0000286	Epicanthus
HP:0000303	Mandibular prognathia
HP:0000316	Hypertelorism
HP:0000331	Short chin
HP:0000337	Broad forehead
HP:0000347	Micrognathia

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST002598_30	Educational attainment	9.000000e-06
GCST003795_8	Age at first birth	6.000000e-07
GCST006045_10	Age at first birth	6.000000e-09
GCST006269_1161	General cognitive ability	3.000000e-08

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004784	self reported educational attainment
EFO:0009101	age at first birth measurement
EFO:0004337	intelligence

MeSH disease descriptors (13)

Descriptor	Name	Tree numbers
D004535	Ehlers-Danlos Syndrome	C14.907.454.240; C15.378.463.515.240; C16.131.831.428; C16.320.850.260; C17.300.200.310; C17.800.804.428; C17.800.827.260
D006330	Heart Defects, Congenital	C14.240.400; C14.280.400; C16.131.240.400
D018197	Hepatoblastoma	C04.557.435.380
D051677	Histiocytoma, Malignant Fibrous	C04.557.450.565.590.425.360; C04.557.450.795.400
D009101	Multiple Myeloma	C04.557.595.500; C14.907.454.460; C15.378.147.780.650; C15.378.463.515.460; C20.683.515.845; C20.683.780.650
D009386	Neoplastic Syndromes, Hereditary	C04.700; C16.320.700
D012516	Osteosarcoma	C04.557.450.565.575.650; C04.557.450.795.620
D010051	Ovarian Neoplasms	C04.588.322.455; C12.050.351.500.056.630.705; C12.050.351.937.418.685; C12.100.250.056.630.705; C12.900.418.685; C19.344.410; C19.391.630.705
D011038	Rothmund-Thomson Syndrome	C16.131.831.775; C16.320.850.765; C16.614.760; C17.800.804.775; C17.800.827.775; C18.452.284.760
C562840	Breast Cancer, Familial (supp.)
C536788	Craniosynostosis radial aplasia syndrome (supp.)
C537443	Meningioma, familial (supp.)
C535288	Rapadilino syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	3
Resveratrol	affects cotreatment, increases expression, decreases expression	2
Cisplatin	decreases expression, increases expression	2
Valproic Acid	affects expression, increases methylation	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
FR900359	decreases phosphorylation	1
fluorene-9-bisphenol	decreases expression	1
propionaldehyde	decreases expression	1
bisphenol A	decreases expression	1
lead acetate	increases expression	1
2,2’-methylenebis(4-methyl-6-tert-butylphenol)	affects expression, affects response to substance	1
methylparaben	increases expression	1
o,p’-DDT	increases methylation	1
perfluorooctanoic acid	decreases expression	1
sulindac sulfide	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
cupric chloride	increases expression	1
hydroquinone	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
monomethylarsonous acid	decreases expression	1
ICG 001	decreases expression	1
abrine	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
NSC 689534	affects binding, decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Bortezomib	increases expression	1

Cellosaurus cell lines

18 cell lines: 7 finite cell line, 4 cancer cell line, 4 transformed cell line, 3 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B5EG	SK-DSRCT2	Cancer cell line	Male
CVCL_C7PE	AG28462	Induced pluripotent stem cell	Male
CVCL_TI71	HAP1 RECQL4 (-) 1	Cancer cell line	Male
CVCL_TI72	HAP1 RECQL4 (-) 2	Cancer cell line	Male
CVCL_TI73	HAP1 RECQL4 (-) 3	Cancer cell line	Male
CVCL_UG21	CDMLi002-A	Induced pluripotent stem cell	Female
CVCL_X812	AG05013	Finite cell line	Male
CVCL_X815	AG17524	Finite cell line	Female
CVCL_X816	AG18371	Finite cell line	Male
CVCL_X817	AG18372	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00668824	PHASE4	UNKNOWN	Improved Diagnosis of Congenital Heart Disease by Magnetic Resonance Imaging Using Vasovist
NCT01368705	PHASE4	COMPLETED	Nitrogen Balance in Infants After Post Cardiothoracic Surgery
NCT01619982	PHASE4	COMPLETED	Pre-operative Prophylaxis With Vancomycin and Cefazolin in Pediatric Cardiovascular Surgery Patients
NCT02122679	PHASE4	WITHDRAWN	Tranexamic Acid Effect on Platelet Aggregation Following Infant Cardiopulmonary Bypass
NCT02527811	PHASE4	UNKNOWN	Ulinastatin Injection in in Pediatric Patients Undergoing Open Heart Surgery
NCT03014700	PHASE4	COMPLETED	Fibrinogen Concentrate vs Cryoprecipitate
NCT03408340	PHASE4	TERMINATED	Paravertebral Nerve Blocks in Neonates
NCT03630796	PHASE4	UNKNOWN	Effect of Sevoflurane in Postoperative Troponin I Levels in Children Undergoing Congenital Heart Defects Surgery
NCT03667703	PHASE4	COMPLETED	Stress Ulcer Prophylaxis Versus Placebo in Critically Ill Infants With Congenital Heart Disease
NCT04453761	PHASE4	UNKNOWN	Thiamine Influenced on Substrate Energy Effectiveness in Indonesian Children Undergoing Cardiopulmonary Bypass
NCT06668389	PHASE4	RECRUITING	Sodium-Glucose Cotransporter 2 Inhibitors for Repaired Tetralogy of Fallot Patients for Enhancement of Cardio-Pulmonary Status Trial
NCT07499154	PHASE4	NOT_YET_RECRUITING	Perioperative Lidocaine for Lung Protection in Infants Undergoing Cardiac Surgery
NCT00190697	PHASE4	COMPLETED	A Study of LY353381 (Arzoxifene) for Patients Who Benefitted From This Drug in Other Oncology Trials and Wished to Continue Treatment
NCT00277160	PHASE4	COMPLETED	A Study of Primary Prophylaxis With Neulasta (Pegfilgrastim) Versus Secondary Prophylaxis After Chemotherapy in Elderly Subjects (>/= 65 Years Old) With Cancer
NCT00727961	PHASE4	COMPLETED	A Study to Evaluate Efficacy and Tolerance of Caelyx in Patients With Epithelial Ovarian Cancer. (Study P04072)(COMPLETED)
NCT00740116	PHASE4	COMPLETED	Tranexamic Acid in Surgery of Advanced Ovarian Cancer
NCT00817479	PHASE4	COMPLETED	Tumor Gene Expression in Women With Ovarian Cancer
NCT01432015	PHASE4	COMPLETED	Fosaprepitant Versus Aprepitant in the Prevention of Chemotherapy Induced Nausea and Vomiting
NCT01706120	PHASE4	UNKNOWN	Study of Clinical and Biological Prognostic Factors in Patients With Ovarian Cancer Receiving Carboplatin +Paclitaxel With Bevacizumab
NCT01932125	PHASE4	COMPLETED	An Interventional Study of Avastin (Bevacizumab) in Patients With Advanced/Metastatic Epithelial Ovarian Cancer, Fallopian Tube Cancer or Primary Peritoneal Cancer
NCT01953107	PHASE4	COMPLETED	Oral Iron vs. Placebo in Newly Diagnosed Gynecologic Oncology Patients Who Are Surgical Candidates.
NCT02035345	PHASE4	TERMINATED	Slowed Carboplatin Infusion for Ovarian Cancer Patients Receiving Carboplatin Re-Treatment
NCT02243059	PHASE4	WITHDRAWN	Magnetic Resonance Imaging for Lymph Node Staging in Ovarian Cancer
NCT03164980	PHASE4	TERMINATED	QoL-Comparison Between Trabectedin/PLD and Pt-based Therapy in Patients With Pt-sensitive Recurrent Ovarian Cancer
NCT03384511	PHASE4	COMPLETED	The Use of 18F-ALF-NOTA-PRGD2 PET/CT Scan to Predict the Efficacy and Adverse Events of Apatinib in Malignancies.
NCT03543462	PHASE4	COMPLETED	Diaphragmatic Resection And Gynecological Ovarian Neoplasm
NCT03752216	PHASE4	COMPLETED	NIraparib and Quality of LifE is a Longitudinal Study Evaluating in Real Life the Tolerability of Niraparib.
NCT03858166	PHASE4	TERMINATED	Efficacy and Safety of PEG-rhG-CSF Secondary Prophylaxis vs. Therapeutic Administration in Patients With Ovarian Cancer
NCT04024254	PHASE4	COMPLETED	A Study of Serum Folate Levels in Patients Treated With Olaparib
NCT04330040	PHASE4	COMPLETED	Prospective Multicentre Phase-IV Clinical Trial of Olaparib in Indian Patients With Ovarian and Metastatic Breast Cancer
NCT04352439	PHASE4	COMPLETED	Aspirin for Prevention of Venous Thromboembolism Among Ovarian Cancer Patients Receiving Neoadjuvant Chemotherapy
NCT05187208	PHASE4	UNKNOWN	PARP Inhibitor Oral Maintenance in Low-Risk Ovarian Cancer
NCT05606692	PHASE4	RECRUITING	Influences of Propofol and Sevoflurane Anesthesia in Ovarian Cancer (Anesthetics)
NCT05926336	PHASE4	RECRUITING	The Effects of Using Different Anesthetics on the Prognosis of Primary Tumors and Its Mechanism of Action
NCT06412120	PHASE4	RECRUITING	Study Evaluating Safety, Tolerability, and Metabolism of Niraparib
NCT06871787	PHASE4	NOT_YET_RECRUITING	Near-Infrared Fluorescence Imaging With Indocyanine Green to Evaluate Bowel Anastomoses in Gynecologic Oncology Surgery
NCT06887933	PHASE4	NOT_YET_RECRUITING	A Trial to Evaluate the Safety of Niraparib Tablets in Adult Female Participants With Advanced or Relapsed Epithelial Ovarian Cancer
NCT07469202	PHASE4	NOT_YET_RECRUITING	CYTALUX Dose Extension Study
NCT00000470	PHASE3	COMPLETED	Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest
NCT00000494	PHASE3	COMPLETED	Management of Patent Ductus in Premature Infants