FANCD2

Summary

FANCD2 (FA complementation group D2, HGNC:3585) is a protein-coding gene on chromosome 3p25.3, encoding Fanconi anemia group D2 protein (Q9BXW9). Required for maintenance of chromosomal stability. It is a selective cancer dependency (DepMap: 13.3% of cell lines).

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 2177 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Fanconi anemia complementation group D2 (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 2,018 total — 136 pathogenic, 123 likely-pathogenic
• Phenotypes (HPO): 143
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 13.3% of screened cell lines
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_001018115

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3585
Approved symbol	FANCD2
Name	FA complementation group D2
Location	3p25.3
Locus type	gene with protein product
Status	Approved
Aliases	FAD, FA-D2
Ensembl gene	ENSG00000144554
Ensembl biotype	protein_coding
OMIM	613984
Entrez	2177

Gene structure

Transcript identifiers

Ensembl transcripts: 40 — 28 protein_coding, 5 protein_coding_CDS_not_defined, 4 retained_intron, 3 nonsense_mediated_decay

ENST00000287647, ENST00000419585, ENST00000421731, ENST00000431693, ENST00000435522, ENST00000438741, ENST00000464934, ENST00000470028, ENST00000470757, ENST00000480909, ENST00000625535, ENST00000675286, ENST00000676013, ENST00000681997, ENST00000682647, ENST00000683263, ENST00000683312, ENST00000683933, ENST00000915094, ENST00000915095, ENST00000915096, ENST00000915097, ENST00000915098, ENST00000915099, ENST00000915100, ENST00000915101, ENST00000915102, ENST00000915103, ENST00000915104, ENST00000915105, ENST00000915106, ENST00000915107, ENST00000915108, ENST00000915109, ENST00000915110, ENST00000915111, ENST00000915112, ENST00000915113, ENST00000915114, ENST00000915115

RefSeq mRNA: 6 — MANE Select: NM_001018115 NM_001018115, NM_001319984, NM_001374253, NM_001374254, NM_001374255, NM_033084

CCDS: CCDS2595, CCDS33696

Canonical transcript exons

ENST00000675286 — 44 exons

Exon	Start	End
ENSE00001029673	10088828	10088950
ENSE00001029677	10081346	10081464
ENSE00001029687	10072871	10072981
ENSE00001029690	10081100	10081228
ENSE00001029694	10078081	10078197
ENSE00001029703	10062151	10062211
ENSE00001029705	10088449	10088542
ENSE00001029707	10085812	10085922
ENSE00001029708	10073253	10073362
ENSE00001029711	10087134	10087264
ENSE00001029716	10090292	10090385
ENSE00001029723	10074530	10074673
ENSE00001077499	10041623	10041710
ENSE00001077506	10034695	10034798
ENSE00001077511	10034469	10034536
ENSE00001164195	10043484	10043592
ENSE00001164200	10043050	10043150
ENSE00001164211	10042559	10042663
ENSE00001218781	10028625	10028721
ENSE00001633006	10052387	10052497
ENSE00001733407	10043829	10043864
ENSE00001735136	10063792	10063911
ENSE00001783284	10064356	10064429
ENSE00001785431	10060294	10060403
ENSE00001785971	10049374	10049505
ENSE00003458996	10039279	10039357
ENSE00003466949	10046580	10046723
ENSE00003513939	10096326	10096472
ENSE00003532627	10032832	10032972
ENSE00003561424	10065394	10065494
ENSE00003568884	10067209	10067317
ENSE00003601643	10064729	10064875
ENSE00003603756	10036287	10036339
ENSE00003622610	10092181	10092252
ENSE00003622867	10098720	10098815
ENSE00003630166	10094289	10094363
ENSE00003649789	10093285	10093323
ENSE00003653588	10095200	10095274
ENSE00003672112	10035173	10035233
ENSE00003678854	10065864	10065979
ENSE00003694275	10047917	10048051
ENSE00003694383	10039721	10039845
ENSE00003900370	10101188	10101932
ENSE00003902164	10026437	10026473

Expression profiles

Bgee: expression breadth ubiquitous, 200 present calls, max score 93.92.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.4493 / max 208.2075, expressed in 1266 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
35270	6.8726	1225
35269	0.4414	261
35271	0.1234	60
35268	0.0118	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	93.92	gold quality
ventricular zone	UBERON:0003053	92.99	gold quality
secondary oocyte	CL:0000655	92.84	gold quality
right testis	UBERON:0004534	92.15	gold quality
left testis	UBERON:0004533	91.50	gold quality
testis	UBERON:0000473	90.82	gold quality
oviduct epithelium	UBERON:0004804	90.48	gold quality
ganglionic eminence	UBERON:0004023	89.65	gold quality
oocyte	CL:0000023	89.52	gold quality
bone marrow cell	CL:0002092	86.20	gold quality
buccal mucosa cell	CL:0002336	85.53	gold quality
mucosa of transverse colon	UBERON:0004991	85.33	gold quality
bone marrow	UBERON:0002371	84.97	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.58	gold quality
spleen	UBERON:0002106	84.33	gold quality
lymph node	UBERON:0000029	84.26	gold quality
vermiform appendix	UBERON:0001154	84.02	gold quality
trabecular bone tissue	UBERON:0002483	83.51	gold quality
epithelium of nasopharynx	UBERON:0001951	83.38	gold quality
granulocyte	CL:0000094	83.21	gold quality
lower esophagus mucosa	UBERON:0035834	82.57	gold quality
tonsil	UBERON:0002372	81.42	gold quality
rectum	UBERON:0001052	80.99	gold quality
stromal cell of endometrium	CL:0002255	80.84	gold quality
esophagus mucosa	UBERON:0002469	80.51	gold quality
small intestine Peyer’s patch	UBERON:0003454	80.45	gold quality
esophagus squamous epithelium	UBERON:0006920	80.42	gold quality
pancreatic ductal cell	CL:0002079	80.10	silver quality
right uterine tube	UBERON:0001302	79.97	gold quality
blood	UBERON:0000178	79.41	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-MTAB-7051	yes	377.73
E-MTAB-7052	yes	88.65
E-MTAB-6678	yes	10.94
E-ANND-3	yes	10.24
E-MTAB-6524	no	130.91
E-GEOD-99795	no	111.26

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CDKN2A, E2F1, E2F4

miRNA regulators (miRDB)

27 targeting FANCD2, 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-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-155-5P	99.35	70.16	1509
HSA-MIR-148A-5P	99.30	68.27	1141
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-196A-3P	99.19	67.34	1204
HSA-MIR-3125	99.14	68.49	2269
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-3916	98.99	68.04	2155
HSA-MIR-6859-5P	98.99	68.07	2049
HSA-MIR-583	98.71	67.44	1791
HSA-MIR-4773	98.35	67.30	1710
HSA-MIR-4768-3P	98.16	66.02	2330
HSA-MIR-6511A-5P	98.13	67.47	1770
HSA-MIR-219B-5P	97.91	65.80	531
HSA-MIR-618	97.62	67.46	861
HSA-MIR-3928-3P	97.61	66.53	1096
HSA-MIR-4253	97.48	65.11	692
HSA-MIR-6862-5P	97.48	64.84	713
HSA-MIR-4286	97.20	64.37	1587
HSA-MIR-4661-3P	96.81	66.02	342
HSA-MIR-6888-5P	95.89	63.78	831

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 13.3% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 40)

• may be a branch point in DNA damage response (PMID:12042798)
• interacts with BRCA1 and RAD51 in S phase cell lines (PMID:12239151)
• NBS1 and FANCD2 cooperate in two distinct cellular functions, one involved in the DNA crosslink response and one involved in the S-phase checkpoint response (PMID:12447395)
• Direct interaction between FANCE and FANCD2 involving an amino-terminal region of FANCD2 was demonstrated; this interaction may provide a link between the FA protein complex and its downstream targets. (PMID:12649160)
• Fancd2 is essential during embryogenesis to prevent inappropriate apoptosis in neural cells and other tissues undergoing high levels of proliferative expansion, implicating this mechanism in the congenital abnormalities observed in human infants with FA. (PMID:14667412)
• The transient slow-down of DNA synthesis was abolished in cells lacking ATR, whereas CHK1-siRNA-treated cells, NBS1 or Fanconi anemia cells showed partial S-phase arrest. (PMID:14988723)
• FANCD2 may have a role in the cellular response to stalled replication forks or in the repair of replication-associated double-strand breaks, irrespective of the type of primary DNA lesion (PMID:15115758)
• Bloom syndrome protein and FANCD2 colocalise and co-immunoprecipitate following treatment with either DNA crosslinkers or agents inducing replication arrest (PMID:15257300)
• ATR checkpoint kinase and RPA1 are required for efficient FANCD2 monoubiquitination (PMID:15314022)
• FANCD2, which is activated by the Fanconi anemia complex, is required to maintain the G2 checkpoint (PMID:15377654)
• The carboxy terminus of FANCD2-44 plays a critical role in sensing or repairing DNA damage. (PMID:15454491)
• Human Fanconi anemia monoubiquitination pathway promotes homologous DNA repair. (PMID:15650050)
• FANCD2 mediates double strand DNA break repair independently of BRCA2- and Rad51-associated homologous recombination (PMID:15671039)
• FANCD2 bound to DNA with specificity for certain structures: double strand DNA ends and Holliday junctions (PMID:15849361)
• FANCD2 mutations were also common in Microsatellite instability+ Therapy-related acute myeloid leukemia/myelodysplastic syndrome (PMID:15886296)
• FANCC, FANCE, and FANCD2 form a ternary complex in the Fanconi anemia DNA damage response pathway (PMID:16127171)
• FANCL, via its WD40 region, binds the FA complex and, via its PHD, recruits an as-yet-unidentified E2 for mono-ubiquitination of FANCD2 (PMID:16474167)
• FANCD2 single nucleotide polymorphisms may be associated with sporadic breast cancer risk (PMID:16679306)
• These findings support the functional connection of ATM/ATR kinases and FANCD2 in the DNA damage response and support a role for the FA pathway in the coordination of the S phase of the cell cycle. (PMID:16943440)
• FANCD2 expression is absent in 10-20% of sporadic and BRCA1-related breast cancers, indicating that somatic inactivating (epi)genetic events in FANCD2 may be important in both sporadic and hereditary breast carcinogenesis (PMID:17333336)
• total absence of FANCD2 does not exist in FA-D2 patients, because of constraints on viable combinations of FANCD2 mutations (PMID:17436244)
• Knocking-down FANCD2 gene expression increases sensitivity of cancer cells to mitomycin C and to less extent to gamma-rays. Cell lines with significant FANCD2 depletion revealed decreased recurrence capacity. (PMID:17643815)
• Study found that Fanconi anemia pathway activation is triggered mainly by the HPV type 16 (HPV-16) E7 oncoprotein and is associated with an enhanced formation of large FANCD2 foci and recruitment of FANCD2 as well as FANCD1/BRCA2 to chromatin. (PMID:17898070)
• Loss of CHK1 function impedes DNA dmage-induced FANCD2 monoubiquitination but normalizes the abnormal G2 arrest in Fanconi anemia. (PMID:18029388)
• FANCG promotes formation of a newly identified protein complex containing BRCA2, FANCD2 and XRCC3. (PMID:18212739)
• chromatin remodeling protein, Tip60, interacts directly with the FANCD2 protein (PMID:18263878)
• Snm1B interacts with the Mre11-Rad50-Nbs1 (MRN) complex and with FancD2 further substantiating its role as a checkpoint/DNA repair protein. (PMID:18469862)
• Carcinogen-mediated suppression of FANCD2 gene expression provides a plausible molecular mechanism for CIN in bronchogenic carcinogenesis. (PMID:18475298)
• In contrast to other DNA damaging agents, ethanol/acetaldehyde generated DNA strand breaks without inducing ubiquitination of FANCD2, despite increasing protein levels in the nucleus. (PMID:18482162)
• Following ERCC1 depletion, FANCD2-Ub formation is reduced and FANCD2 foci are eliminated. (PMID:18672388)
• no defect in FANCD2 ubiquitination, BRCA2 and FANCJ expression; absence of FANCN protein in three cell lines: HT, Sudhl4 and JEKO-1. (PMID:19011769)
• Resutls show a role of FANCD2 in ALT, evidence shows that knockdown of FANCD2 rapidly causes telomere dysfunction in cells that rely on ALT to maintain telomeres. (PMID:19047177)
• unlike cells defective in other core complex members, FANCM(-/-) cells were proficient in monoubiquitinating FANCD2 (PMID:19423727)
• Data show that FANCD2 and FANCI specifically associate with common fragile site loci irrespective of whether the chromosome is broken, and that these loci are frequently interlinked through BLM-associated ultra-fine DNA bridges through mitosis. (PMID:19465922)
• the role of the central FA protein D2 (FANCD2) in determining cellular radioresistance (PMID:19466639)
• Our results suggest that large genomic deletions in BRIP1/FANCJ, PALB2/FANCN, and FANCD2 do not contribute significantly to the familial breast cancer risk in the Dutch population (PMID:19504183)
• the FANCI-FANCD2 complex may participate in repair of damaged replication forks through its preferential recognition of branched structures. (PMID:19561358)
• Inhibition of MRE11, NBS1 or RAD50 leads to a destabilization of FANCD2. (PMID:19609304)
• The successful detection of BRCA1, FANCD2, and RAD51 foci in breast cancer biopsies irradiated ex vivo, is reported. (PMID:19671671)
• PCNA may function as a molecular platform to facilitate the mono-ubiquitination of FANCD2 and activation of the FA-BRCA pathway (PMID:19704162)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	fancd2	ENSDARG00000053574
mus_musculus	Fancd2	ENSMUSG00000034023
rattus_norvegicus	Fancd2	ENSRNOG00000061085
drosophila_melanogaster	Fancd2	FBGN0038827
caenorhabditis_elegans		WBGENE00012767

Protein

Protein identifiers

Fanconi anemia group D2 protein — Q9BXW9 (reviewed: Q9BXW9)

All UniProt accessions (4): Q9BXW9, A0A6Q8PFY3, F8WE37, H7BZJ7

UniProt curated annotations — full annotation on UniProt →

Function. Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. The FANCI-FANCD2 complex binds and scans double-stranded DNA (dsDNA) for DNA damage; this complex stalls at DNA junctions between double-stranded DNA and single-stranded DNA. May participate in S phase and G2 phase checkpoint activation upon DNA damage. Plays a role in preventing breakage and loss of missegregating chromatin at the end of cell division, particularly after replication stress. Required for the targeting, or stabilization, of BLM to non-centromeric abnormal structures induced by replicative stress. Promotes BRCA2/FANCD1 loading onto damaged chromatin. May also be involved in B-cell immunoglobulin isotype switching.

Subunit / interactions. Homodimer; cannot be ubiquitinated and does not bind DNA. Part of a FANCI-FANCD2 heterodimeric complex that binds and scans dsDNA for DNA damage. Interacts directly with FANCE and FANCI. Interacts with USP1 and MEN1. The ubiquitinated form specifically interacts with BRCA1 and BLM. Both the nonubiquitinated and the monoubiquitinated forms interact with BRCA2; this interaction is mediated by phosphorylated FANCG and the complex also includes XCCR3. The ubiquitinated form specifically interacts with MTMR15/FAN1 (via UBZ-type zinc finger), leading to recruit MTMR15/FAN1 to sites of DNA damage. Interacts with DCLRE1B/Apollo. Interacts with POLN. Interacts with UHRF1 and UHRF2; these interactions promote FANCD2 activation.

Subcellular location. Nucleus.

Tissue specificity. Highly expressed in germinal center cells of the spleen, tonsil, and reactive lymph nodes, and in the proliferating basal layer of squamous epithelium of tonsil, esophagus, oropharynx, larynx and cervix. Expressed in cytotrophoblastic cells of the placenta and exocrine cells of the pancreas (at protein level). Highly expressed in testis, where expression is restricted to maturing spermatocytes.

Post-translational modifications. Monoubiquitinated on Lys-561 during S phase and upon genotoxic stress by FANCL in complex with E2 ligases UBE2T or UBE2W (isoform 1 and isoform 2). Deubiquitinated by USP1 as cells enter G2/M, or once DNA repair is completed. Monoubiquitination requires the joint intervention of the FANC core complex, including FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, and FANCM, and proteins involved in cell cycle checkpoints and DNA repair, including RPA1, ATR, CHEK1 and BRCA1, and is mediated by FANCL/PHF9. Monoubiquitination prevents DNA release from the FANCI-FANCD2 complex. FANCD2 is only ubiquitinated in the FANCI-FANCD2 complex and the monoubiquitination of FANCD2 is promoted by phosphorylation of FANCI. Ubiquitination is required for binding to chromatin, interaction with BRCA1, BRCA2 and MTMR15/FAN1, DNA repair, and normal cell cycle progression, but not for phosphorylation on Ser-222 or interaction with MEN1. Phosphorylated in response to various genotoxic stresses by ATM and/or ATR. Upon ionizing radiation, phosphorylated by ATM on Ser-222 and Ser-1404. Phosphorylation on Ser-222 is required for S-phase checkpoint activation, but not for ubiquitination, foci formation, or DNA repair. In contrast, phosphorylation by ATR on other sites may be required for ubiquitination and foci formation.

Disease relevance. Fanconi anemia complementation group D2 (FANCD2) [MIM:227646] A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The C-terminal 24 residues of isoform 2 are required for its function.

Miscellaneous. Less abundant than isoform 2, may be not functional.

Similarity. Belongs to the Fanconi anemia protein FANCD2 family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9BXW9-2	2	yes
Q9BXW9-1	1
Q9BXW9-3	3
Q9BXW9-4	4

RefSeq proteins (6): NP_001018125, NP_001306913, NP_001361182, NP_001361183, NP_001361184, NP_149075 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029448	FANCD2	Family

Pfam: PF14631

UniProt features (152 total): helix 73, strand 17, sequence variant 15, modified residue 12, turn 11, mutagenesis site 6, region of interest 5, splice variant 5, sequence conflict 3, compositionally biased region 3, chain 1, cross-link 1

Structure

Experimental structures (PDB)

13 structures.

PDB	Method	Resolution (Å)
8A9J	ELECTRON MICROSCOPY	2.8
8A9K	ELECTRON MICROSCOPY	2.85
6VAD	ELECTRON MICROSCOPY	3.3
6VAA	ELECTRON MICROSCOPY	3.4
6VAE	ELECTRON MICROSCOPY	3.6
7AY1	ELECTRON MICROSCOPY	3.7
6VAF	ELECTRON MICROSCOPY	3.9
7ZF1	ELECTRON MICROSCOPY	4.14
7KZS	ELECTRON MICROSCOPY	4.2
7KZT	ELECTRON MICROSCOPY	4.2
7KZV	ELECTRON MICROSCOPY	4.2
7KZQ	ELECTRON MICROSCOPY	4.3
7KZR	ELECTRON MICROSCOPY	4.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BXW9-F1	77.24	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.

Post-translational modifications (13): 222, 592, 594, 717, 1257, 1401, 1404, 1412, 1423, 1426, 1435, 561, 8

Mutagenesis-validated functional residues (6):

Position	Phenotype
222	reduces phosphorylation by atm. no effect on ubiquitination, foci formation or dna repair ability, but impairs s-phase c
561	abolishes ubiquitination; impairs chromatin binding, foci formation and dna repair. abolishes interaction with mtmr15/fa
1257	no effect on phosphorylation by atm.
1401	reduces phosphorylation by atm; when associated with a-1404 and a-1418.
1404	reduces phosphorylation by atm; when associated with a-1401 and a-1418.
1418	reduces phosphorylation by atm; when associated with a-1401 and a-1404.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-6783310	Fanconi Anemia Pathway
R-HSA-6796648	TP53 Regulates Transcription of DNA Repair Genes

MSigDB gene sets: 568 (showing top): PID_FANCONI_PATHWAY, GOBP_MEIOTIC_CHROMOSOME_SEGREGATION, GOBP_REGULATION_OF_CELL_ACTIVATION, E2F_Q4, GOBP_CHROMOSOME_ORGANIZATION, GOBP_RESPONSE_TO_IONIZING_RADIATION, HORIUCHI_WTAP_TARGETS_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, E2F4DP1_01, GOBP_INFLAMMATORY_RESPONSE, GOBP_CELL_CYCLE_PHASE_TRANSITION, TGACCTY_ERR1_Q2, KAUFFMANN_DNA_REPAIR_GENES, GOBP_MITOTIC_INTRA_S_DNA_DAMAGE_CHECKPOINT_SIGNALING, CREB_Q4

GO Biological Process (14): homologous chromosome pairing at meiosis (GO:0007129), gamete generation (GO:0007276), response to gamma radiation (GO:0010332), mitotic intra-S DNA damage checkpoint signaling (GO:0031573), cellular response to oxidative stress (GO:0034599), interstrand cross-link repair (GO:0036297), regulation of regulatory T cell differentiation (GO:0045589), brain morphogenesis (GO:0048854), regulation of inflammatory response (GO:0050727), neuronal stem cell population maintenance (GO:0097150), double-strand break repair involved in meiotic recombination (GO:1990918), regulation of CD40 signaling pathway (GO:2000348), DNA repair (GO:0006281), DNA damage response (GO:0006974)

GO Molecular Function (2): DNA polymerase binding (GO:0070182), protein binding (GO:0005515)

GO Cellular Component (8): chromatin (GO:0000785), condensed chromosome (GO:0000793), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), nuclear body (GO:0016604), DNA repair complex (GO:1990391)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
DNA Repair	1
Transcriptional Regulation by TP53	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
chromosome	2
nuclear lumen	2
intracellular membraneless organelle	2
homologous chromosome segregation	1
chromosome organization involved in meiotic cell cycle	1
sexual reproduction	1
multicellular organismal reproductive process	1
response to ionizing radiation	1
mitotic S phase	1
mitotic DNA damage checkpoint signaling	1
response to oxidative stress	1
cellular response to chemical stress	1
DNA repair	1
regulatory T cell differentiation	1
regulation of T cell differentiation	1
brain development	1
animal organ morphogenesis	1
inflammatory response	1
regulation of defense response	1
regulation of response to external stimulus	1
stem cell population maintenance	1
double-strand break repair	1
reciprocal meiotic recombination	1
meiotic cell cycle process	1
regulation of signal transduction	1
CD40 signaling pathway	1
DNA metabolic process	1
DNA damage response	1
cellular response to stress	1
enzyme binding	1
binding	1
intracellular membrane-bounded organelle	1
cytoplasm	1
nucleoplasm	1
catalytic complex	1

Protein interactions and networks

STRING

2475 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FANCD2	BRCA2	P51587	999
FANCD2	FANCI	Q9NVI1	999
FANCD2	BRCA1	P38398	998
FANCD2	FANCG	O15287	995
FANCD2	BRIP1	Q9BX63	993
FANCD2	RAD51	Q06609	993
FANCD2	FANCL	Q9NW38	988
FANCD2	FANCA	O15360	987
FANCD2	PALB2	Q86YC2	981
FANCD2	FAN1	Q9Y2M0	981
FANCD2	FANCC	Q00597	980
FANCD2	FANCM	Q8IYD8	977
FANCD2	SLX4	Q8IY92	972
FANCD2	FANCE	Q9HB96	971
FANCD2	FANCF	Q9NPI8	971

IntAct

231 interactions, top by confidence:

A	B	Type	Score
MDC1	NBN	psi-mi:“MI:0914”(association)	0.970
VAPB	FAM83G	psi-mi:“MI:0914”(association)	0.730
BRCA2	FANCD2	psi-mi:“MI:0915”(physical association)	0.690
FANCD2	BRCA2	psi-mi:“MI:0915”(physical association)	0.690
FANCD2	FSCN1	psi-mi:“MI:0915”(physical association)	0.650
FSCN1	FANCD2	psi-mi:“MI:0915”(physical association)	0.650
FSCN1	FANCD2	psi-mi:“MI:0403”(colocalization)	0.650
RAF1	CALU	psi-mi:“MI:0914”(association)	0.640
FANCE	FANCD2	psi-mi:“MI:0915”(physical association)	0.620
FANCD2	FANCE	psi-mi:“MI:0915”(physical association)	0.620
FANCD2	CEBPD	psi-mi:“MI:0914”(association)	0.610
CEBPD	FANCD2	psi-mi:“MI:0914”(association)	0.610
CEBPD	FANCD2	psi-mi:“MI:0915”(physical association)	0.610
IPO4	CEBPD	psi-mi:“MI:0914”(association)	0.610

BioGRID (1114): FANCD2 (Affinity Capture-Western), FAN1 (Affinity Capture-Western), FZR1 (Affinity Capture-Western), FANCD2 (Affinity Capture-Western), FANCD2 (Co-fractionation), FANCD2 (Affinity Capture-Western), FANCD2 (Affinity Capture-MS), FANCD2 (Affinity Capture-MS), FANCD2 (Affinity Capture-MS), FANCD2 (Affinity Capture-MS), FANCD2 (Affinity Capture-MS), FANCD2 (Affinity Capture-Western), FANCD2 (Co-fractionation), FANCD2 (Affinity Capture-MS), FANCD2 (Synthetic Growth Defect)

ESM2 similar proteins: A0JMW6, A1A535, A1A5P5, A1L1L2, A1L2I9, A2BID5, A4FV45, A7Z033, F1QN74, P56695, Q08CY4, Q0KK59, Q14D04, Q2PW47, Q3UHQ6, Q568Z0, Q5FWU8, Q5JWR5, Q5PQS3, Q5SPP5, Q5U249, Q642P2, Q68F70, Q68Y81, Q6DRL5, Q6GPP1, Q6GQ26, Q6IV68, Q6NUQ4, Q6PI53, Q7SYB2, Q7Z3E5, Q7ZYV9, Q80V62, Q80X82, Q8BL99, Q8BM55, Q8CIM8, Q8JGR7, Q8K1H7

Diamond homologs: Q68Y81, Q6IV68, Q80V62, Q9BXW9

SIGNOR signaling

27 interactions.

A	Effect	B	Mechanism
MEN1	up-regulates	FANCD2	binding
CHEK1	“up-regulates activity”	FANCD2	phosphorylation
ATR	up-regulates	FANCD2	phosphorylation
BRCA1	“up-regulates activity”	FANCD2	ubiquitination
“BRCA1-BARD1 complex”	“up-regulates activity”	FANCD2	ubiquitination
FANCD2	“up-regulates activity”	BRCA2	binding
“Fanconi anemia core complex”	“up-regulates activity”	FANCD2	ubiquitination
FANCL	“up-regulates activity”	FANCD2	ubiquitination
FANCD2	“up-regulates activity”	BRCA2	relocalization
FANCD2	“form complex”	“D1-D2-G-X3 complex”	binding
FANCD2	“form complex”	“Fanconi anemia ID complex”	binding
USP1	“down-regulates activity”	FANCD2	deubiquitination
CSNK2A1	“down-regulates activity”	FANCD2	phosphorylation
RAD18	“up-regulates activity”	FANCD2	ubiquitination
ATM	up-regulates	FANCD2	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 194 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
TNFs bind their physiological receptors	5	16.6×	4e-03
Meiosis	5	12.0×	8e-03
Fanconi Anemia Pathway	5	11.7×	8e-03

GO biological processes:

GO term	Partners	Fold	FDR
intrinsic apoptotic signaling pathway in response to DNA damage	7	13.9×	9e-04
interstrand cross-link repair	5	13.2×	9e-03
phospholipase C-activating G protein-coupled receptor signaling pathway	9	7.3×	2e-03
positive regulation of ERK1 and ERK2 cascade	10	5.2×	8e-03
G protein-coupled receptor signaling pathway	17	3.8×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

2018 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	136
Likely pathogenic	123
Uncertain significance	728
Likely benign	738
Benign	111

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1068736	NC_000003.11:g.10094065-?_10191654+?del	Pathogenic
1070024	NC_000003.11:g.10106407-?_10191654+?del	Pathogenic
1070736	NC_000003.11:g.(?10070342)(10074666_?)del	Pathogenic
1072175	NM_001018115.3(FANCD2):c.4140T>A (p.Cys1380Ter)	Pathogenic
1072917	NM_001018115.3(FANCD2):c.775del (p.Leu259fs)	Pathogenic
1076764	NC_000003.11:g.(?10074510)(10085282_?)del	Pathogenic
12041	NM_001018115.3(FANCD2):c.958C>T (p.Gln320Ter)	Pathogenic
12042	NM_001018115.1:c.1414_1545del	Pathogenic
1322878	NM_001018115.3(FANCD2):c.2160del (p.Gly721fs)	Pathogenic
1322882	NM_001018115.3(FANCD2):c.2977-2A>G	Pathogenic
1322883	NM_001018115.3(FANCD2):c.3500G>A (p.Trp1167Ter)	Pathogenic
1338373	NM_001018115.3(FANCD2):c.3385C>T (p.Gln1129Ter)	Pathogenic
1379260	NM_001018115.3(FANCD2):c.696-1G>A	Pathogenic
1450768	NM_001018115.3(FANCD2):c.1825C>T (p.Gln609Ter)	Pathogenic
1454434	NC_000003.11:g.(?10105466)(10107188_?)del	Pathogenic
1454740	NM_001018115.3(FANCD2):c.235dup (p.Leu79fs)	Pathogenic
1456818	NM_001018115.3(FANCD2):c.1200_1201insTTCTTTGTCTAATGTACTA (p.Arg401delinsPhePheValTer)	Pathogenic
1457282	NM_001018115.3(FANCD2):c.3187_3194del (p.Gln1063fs)	Pathogenic
1457757	NC_000003.11:g.(?10070342)(10094191_?)del	Pathogenic
1460433	NC_000003.11:g.(?10070342)(10140634_?)del	Pathogenic
1685810	NM_001018115.3(FANCD2):c.1279-1G>A	Pathogenic
2027396	NM_001018115.3(FANCD2):c.3103C>T (p.Gln1035Ter)	Pathogenic
2028932	NM_001018115.3(FANCD2):c.3271del (p.Leu1091fs)	Pathogenic
2035666	NM_001018115.3(FANCD2):c.3024del (p.Ala1009fs)	Pathogenic
2133517	NM_001018115.3(FANCD2):c.848dup (p.Phe284fs)	Pathogenic
2191507	NM_001018115.3(FANCD2):c.3156_3157insGGAC (p.Gln1053fs)	Pathogenic
241735	NM_001018115.3(FANCD2):c.2444G>A (p.Arg815Gln)	Pathogenic
2427113	NC_000003.11:g.(?10127476)(10136978_?)del	Pathogenic
2427114	NC_000003.11:g.(?10130113)(10133956_?)del	Pathogenic
2427115	NC_000003.11:g.(?10080953)(10085558_?)del	Pathogenic

SpliceAI

7033 predictions. Top by Δscore:

Variant	Effect	Δscore
3:10026474:G:GG	donor_gain	1.0000
3:10026474:GTG:G	donor_loss	1.0000
3:10026475:T:A	donor_loss	1.0000
3:10026478:G:GG	donor_gain	1.0000
3:10028622:TA:T	acceptor_loss	1.0000
3:10028623:A:AG	acceptor_gain	1.0000
3:10028624:G:GG	acceptor_gain	1.0000
3:10028624:GGAA:G	acceptor_gain	1.0000
3:10028717:CTCCA:C	donor_gain	1.0000
3:10028718:TCCA:T	donor_gain	1.0000
3:10028719:CCA:C	donor_gain	1.0000
3:10028720:CA:C	donor_gain	1.0000
3:10028720:CAG:C	donor_loss	1.0000
3:10028722:G:GG	donor_gain	1.0000
3:10028722:GT:G	donor_loss	1.0000
3:10028723:TAAG:T	donor_loss	1.0000
3:10032828:TCAG:T	acceptor_loss	1.0000
3:10032830:A:AG	acceptor_gain	1.0000
3:10032830:AGAA:A	acceptor_loss	1.0000
3:10032831:G:GA	acceptor_gain	1.0000
3:10032934:G:GT	donor_gain	1.0000
3:10032969:C:G	donor_gain	1.0000
3:10032969:CTAG:C	donor_loss	1.0000
3:10032970:TAGGT:T	donor_loss	1.0000
3:10032973:G:A	donor_loss	1.0000
3:10032974:T:A	donor_loss	1.0000
3:10034537:G:GG	donor_gain	1.0000
3:10034682:A:AG	acceptor_gain	1.0000
3:10034683:A:G	acceptor_gain	1.0000
3:10034693:A:G	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000019776 (3:10039591 C>A), RS1000088984 (3:10095431 A>C), RS1000089815 (3:10038283 C>T), RS1000093275 (3:10032432 C>T), RS1000178707 (3:10058109 C>T), RS1000254003 (3:10085865 T>A), RS1000288802 (3:10065164 C>G), RS1000333559 (3:10052304 C>A,G), RS1000352110 (3:10071326 A>C), RS1000372107 (3:10031501 C>A), RS1000437618 (3:10094211 T>C), RS1000453996 (3:10029302 C>G,T), RS1000468552 (3:10071149 A>G,T), RS1000504365 (3:10063511 A>G), RS1000510296 (3:10056730 G>A)

Disease associations

OMIM: gene MIM:613984 | disease phenotypes: MIM:227646, MIM:227650, MIM:167000, MIM:193300, MIM:263400, MIM:601626, MIM:114480

GenCC curated gene-disease

Disease	Classification	Inheritance
Fanconi anemia complementation group D2	Definitive	Autosomal recessive
Fanconi anemia	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
Fanconi anemia complementation group D2	Definitive	AR

Mondo (14): Fanconi anemia complementation group D2 (MONDO:0009214), Fanconi anemia (MONDO:0019391), ovarian cancer (MONDO:0008170), von Hippel-Lindau disease (MONDO:0008667), Chuvash polycythemia (MONDO:0009892), hereditary breast ovarian cancer syndrome (MONDO:0003582), Fanconi anemia complementation group A (MONDO:0009215), breast cancer (MONDO:0007254), hereditary neoplastic syndrome (MONDO:0015356), intellectual disability (MONDO:0001071), cleft palate (MONDO:0016064), acute myeloid leukemia (MONDO:0018874), hereditary breast carcinoma (MONDO:0016419), hepatoblastoma (MONDO:0018666)

Orphanet (11): Fanconi anemia (Orphanet:84), Rare ovarian cancer (Orphanet:213500), Chuvash erythrocytosis (Orphanet:238557), Von Hippel-Lindau disease (Orphanet:892), Hereditary breast and/or ovarian cancer syndrome (Orphanet:145), Inherited cancer-predisposing syndrome (Orphanet:140162), Cleft palate (Orphanet:2014), Acute myeloid leukemia (Orphanet:519), Hereditary breast cancer (Orphanet:227535), Hepatoblastoma (Orphanet:449), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

143 total (30 of 143 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000010	Recurrent urinary tract infections
HP:0000027	Azoospermia
HP:0000028	Cryptorchidism
HP:0000035	Abnormal testis morphology
HP:0000047	Hypospadias
HP:0000054	Micropenis
HP:0000072	Hydroureter
HP:0000075	Renal duplication
HP:0000079	Abnormality of the urinary system
HP:0000081	Duplicated collecting system
HP:0000083	Renal insufficiency
HP:0000085	Horseshoe kidney
HP:0000086	Ectopic kidney
HP:0000104	Renal agenesis
HP:0000125	Pelvic kidney
HP:0000130	Abnormality of the uterus
HP:0000135	Hypogonadism
HP:0000175	Cleft palate
HP:0000218	High palate
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000268	Dolichocephaly
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000324	Facial asymmetry
HP:0000340	Sloping forehead
HP:0000347	Micrognathia
HP:0000364	Hearing abnormality
HP:0000365	Hearing impairment

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002422_5	Alzheimer’s disease	2.000000e-06
GCST008159_6	Waist-to-hip ratio adjusted for BMI	9.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio

MeSH disease descriptors (11)

Descriptor	Name	Tree numbers
D002972	Cleft Palate	C05.500.460.185; C05.660.207.540.460.185; C07.320.440.185; C07.465.525.185; C07.650.500.460.185; C07.650.525.185; C16.131.621.207.540.460.185; C16.131.850.500.460.185; C16.131.850.525.185
D005199	Fanconi Anemia	C15.378.050.085.080.280; C15.378.190.223.500.500.280; C16.320.077.280; C18.452.284.280
D018197	Hepatoblastoma	C04.557.435.380
D061325	Hereditary Breast and Ovarian Cancer Syndrome	C04.588.180.483; C04.588.322.455.431; C04.700.517; C12.050.351.500.056.630.705.431; C12.050.351.937.418.685.431; C12.100.250.056.630.705.431; C12.900.418.685.431; C16.320.700.517; C17.800.090.500.483; C19.344.410.431; C19.391.630.705.431
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D015470	Leukemia, Myeloid, Acute	C04.557.337.539.275; C15.378.508.539.275
D009386	Neoplastic Syndromes, Hereditary	C04.700; C16.320.700
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
D006623	von Hippel-Lindau Disease	C10.562.925; C14.907.077.925; C16.131.077.245.750; C16.320.184.750
C562840	Breast Cancer, Familial (supp.)
C563918	Erythrocytosis, Familial, 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2157857 (SINGLE PROTEIN)

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

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.71	Kd	1962	nM	CHEMBL3752910
5.71	ED50	1962	nM	CHEMBL3752910
5.64	Kd	2278	nM	CHEMBL5653589
5.64	ED50	2278	nM	CHEMBL5653589

PubChem BioAssay actives

2 with measured affinity, of 5 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148368: Binding affinity to human FANCD2 incubated for 45 mins by Kinobead based pull down assay	kd	1.9619	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148368: Binding affinity to human FANCD2 incubated for 45 mins by Kinobead based pull down assay	kd	2.2784	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
Benzo(a)pyrene	affects methylation, decreases expression, increases expression	3
Endosulfan	affects expression, decreases reaction, decreases expression, increases expression	3
Mitomycin	increases ubiquitination, decreases activity, increases response to substance, affects ubiquitination, decreases reaction (+1 more)	3
N-(oxo-5,6-dihydrophenanthridin-2-yl)-N,N-dimethylacetamide hydrochloride	decreases expression	2
Bortezomib	decreases expression	2
Resveratrol	affects cotreatment, increases expression	2
Acetaminophen	increases expression, decreases expression	2
Cisplatin	increases expression, increases ubiquitination	2
Doxorubicin	decreases expression, affects reaction, affects expression, affects response to substance	2
Oxygen	decreases expression	2
Rotenone	decreases expression, increases expression	2
Particulate Matter	increases abundance, affects reaction, increases expression, increases ubiquitination, affects cotreatment (+1 more)	2
FR900359	affects phosphorylation	1
pradimicin-IRD	decreases expression, affects expression, affects response to substance	1
lasiocarpine	decreases expression, increases metabolic processing	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
propionaldehyde	decreases expression	1
bisphenol A	decreases expression	1
diepoxybutane	decreases activity, increases response to substance	1
N(4)-hydroxycytidine	increases expression	1
riddelliine	decreases expression, increases metabolic processing	1
beta-lapachone	decreases expression	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	decreases expression	1
monomethylarsonic acid	decreases activity, increases response to substance	1
nickel chloride	decreases expression	1
manganese chloride	decreases expression, increases abundance	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL2160735	Binding	Inhibition of CDDP-induced FANCD2 monoubiquitination in human HeLa cells at 9 uM after 18 hrs by Western blot analysis	The antitumor agent doxorubicin binds to Fanconi anemia group F protein. — Bioorg Med Chem

Cellosaurus cell lines

12 cell lines: 9 cancer cell line, 3 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_AK49	PD20 RV:D2	Transformed cell line	Male
CVCL_B1RX	Abcam HeLa FANCD2 KO	Cancer cell line	Female
CVCL_B8FR	Abcam HCT 116 FANCD2 KO	Cancer cell line	Male
CVCL_B8VL	Abcam MCF-7 FANCD2 KO	Cancer cell line	Female
CVCL_B9HY	Abcam A-549 FANCD2 KO	Cancer cell line	Male
CVCL_D6BI	HyCyte HeLa KO-hFANCD2	Cancer cell line	Female
CVCL_D6CM	HyCyte SiHa KO-hFANCD2	Cancer cell line	Female
CVCL_G041	GM16756	Transformed cell line	Male
CVCL_G042	GM16633	Transformed cell line	Male
CVCL_KT56	HeLa SilenciX FancD2	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
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
NCT06519786	PHASE3	UNKNOWN	Safety and Efficacy of Metformin for Treatment of Cytopenia in Children and Adolescents With Fanconi Anemia
NCT00001806	PHASE3	COMPLETED	Methods in Education for Breast Cancer Genetics
NCT00002477	PHASE3	UNKNOWN	Adjuvant Chemotherapy Compared With Observation in Treating Patients With Resected Early Stage Ovarian Epithelial Cancer
NCT00002568	PHASE3	COMPLETED	Combination Chemotherapy With or Without Surgery in Treating Patients With Stage III Ovarian Epithelial Cancer
NCT00002641	PHASE3	COMPLETED	Surgery With or Without Chemotherapy in Treating Patients With Soft Tissue Sarcoma
NCT00002717	PHASE3	COMPLETED	Paclitaxel and Cisplatin in Treating Patients With Stage III or Stage IV Ovarian Cancer or Primary Peritoneal Cancer
NCT00002764	PHASE3	COMPLETED	Surgery With or Without Combination Chemotherapy in Treating Patients With Lung Metastases From Soft Tissue Sarcoma
NCT00002819	PHASE3	TERMINATED	Chemotherapy With or Without Peripheral Stem Cell Transplantation in Treating Patients With Persistent Ovarian Epithelial Cancer
NCT00002894	PHASE3	COMPLETED	Platinum-based Chemotherapy With or Without Paclitaxel in Treating Patients With Relapsed Ovarian Cancer
NCT00002895	PHASE3	COMPLETED	Early Chemotherapy Based on CA 125 Level Alone Compared With Delayed Chemotherapy in Treating Patients With Recurrent Ovarian Epithelial , Fallopian Tube, or Primary Peritoneal Cancer
NCT00003120	PHASE3	COMPLETED	S9701 Paclitaxel in Treating Patients With Advanced Ovarian, Fallopian Tube, or Primary Peritoneal Cancer in Remission
NCT00003214	PHASE3	COMPLETED	Chemosensitivity Testing to Assign Treatment for Patients With Stage III or Stage IV Ovarian Cancer
NCT00003322	PHASE3	COMPLETED	Combination Chemotherapy in Treating Patients With Primary Peritoneal or Stage III Epithelial Ovarian Cancer
NCT00003636	PHASE3	COMPLETED	Chemotherapy Plus Surgery in Treating Patients With Stage III or Stage IV Ovarian, Peritoneal, or Fallopian Tube Cancer