FANCD2OS
geneOn this page
Also known as MGC40179
Summary
FANCD2OS (FANCD2 opposite strand, HGNC:28623) is a protein-coding gene on chromosome 3p25.3, encoding FANCD2 opposite strand protein (Q96PS1). Reduces testosterone levels by inhibiting steroidogenic enzymes and by promoting apoptosis in Leydig cells.
This gene encodes a conserved protein of unknown function.
Source: NCBI Gene 115795 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 97 total — 4 pathogenic, 2 likely-pathogenic
- MANE Select transcript:
NM_001164839
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28623 |
| Approved symbol | FANCD2OS |
| Name | FANCD2 opposite strand |
| Location | 3p25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC40179 |
| Ensembl gene | ENSG00000163705 |
| Ensembl biotype | protein_coding |
| OMIM | 621082 |
| Entrez | 115795 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 3 protein_coding_CDS_not_defined, 3 protein_coding
ENST00000431315, ENST00000436517, ENST00000450616, ENST00000450660, ENST00000453223, ENST00000524279
RefSeq mRNA: 2 — MANE Select: NM_001164839
NM_001164839, NM_173472
CCDS: CCDS2596
Canonical transcript exons
ENST00000450660 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001644655 | 10108015 | 10108255 |
| ENSE00002092506 | 10103937 | 10104782 |
Expression profiles
Bgee: expression breadth ubiquitous, 120 present calls, max score 95.73.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1185 / max 115.9288, expressed in 4 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 41019 | 0.1086 | 4 |
| 41020 | 0.0098 | 3 |
Top tissues by expression
230 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 95.73 | gold quality |
| right testis | UBERON:0004534 | 95.41 | gold quality |
| testis | UBERON:0000473 | 92.08 | gold quality |
| pancreatic ductal cell | CL:0002079 | 92.06 | silver quality |
| sperm | CL:0000019 | 86.58 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.61 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 80.94 | gold quality |
| adult organism | UBERON:0007023 | 79.72 | gold quality |
| ileal mucosa | UBERON:0000331 | 74.75 | silver quality |
| myocardium | UBERON:0002349 | 70.48 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 69.83 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 69.58 | gold quality |
| deltoid | UBERON:0001476 | 66.65 | gold quality |
| upper arm skin | UBERON:0004263 | 65.32 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 64.20 | gold quality |
| quadriceps femoris | UBERON:0001377 | 63.99 | gold quality |
| upper leg skin | UBERON:0004262 | 62.17 | silver quality |
| vastus lateralis | UBERON:0001379 | 61.97 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 61.54 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 60.93 | gold quality |
| heart right ventricle | UBERON:0002080 | 60.70 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 60.07 | gold quality |
| biceps brachii | UBERON:0001507 | 59.63 | gold quality |
| superficial temporal artery | UBERON:0001614 | 58.76 | gold quality |
| gingival epithelium | UBERON:0001949 | 55.72 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 54.73 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 54.68 | gold quality |
| gingiva | UBERON:0001828 | 54.50 | gold quality |
| parotid gland | UBERON:0001831 | 54.45 | gold quality |
| muscle tissue | UBERON:0002385 | 54.40 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.21 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
34 targeting FANCD2OS, 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-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-6857-5P | 99.87 | 65.32 | 985 |
| HSA-MIR-10395-5P | 99.86 | 67.35 | 676 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-4255 | 99.72 | 67.70 | 1541 |
| HSA-MIR-580-3P | 99.67 | 69.23 | 1841 |
| HSA-MIR-3158-5P | 99.65 | 67.51 | 1763 |
| HSA-MIR-122B-5P | 99.46 | 70.81 | 1457 |
| HSA-MIR-4251 | 99.40 | 69.19 | 3363 |
| HSA-MIR-185-5P | 99.35 | 68.60 | 2497 |
| HSA-MIR-4644 | 99.35 | 69.12 | 2514 |
| HSA-MIR-5582-5P | 99.27 | 71.42 | 1879 |
| HSA-MIR-1911-5P | 98.92 | 67.53 | 325 |
| HSA-MIR-4450 | 98.26 | 68.35 | 725 |
| HSA-MIR-3650 | 97.88 | 64.89 | 693 |
| HSA-MIR-4433A-3P | 97.75 | 62.82 | 1435 |
| HSA-MIR-299-3P | 97.73 | 66.67 | 773 |
| HSA-MIR-4253 | 97.48 | 65.11 | 692 |
| HSA-MIR-6862-5P | 97.48 | 64.84 | 713 |
| HSA-MIR-5192 | 96.89 | 63.35 | 879 |
| HSA-MIR-4703-3P | 96.68 | 68.61 | 545 |
| HSA-MIR-4491 | 96.53 | 66.20 | 935 |
| HSA-MIR-4657 | 96.53 | 66.57 | 895 |
| HSA-MIR-4761-3P | 96.27 | 66.26 | 524 |
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Fancd2os | ENSMUSG00000033963 |
| rattus_norvegicus | Fancd2os | ENSRNOG00000010177 |
| rattus_norvegicus | ENSRNOG00000072822 | |
| rattus_norvegicus | Fancd2osl1 | ENSRNOG00000077755 |
| rattus_norvegicus | ENSRNOG00000085190 | |
| rattus_norvegicus | ENSRNOG00000088812 |
Protein
Protein identifiers
FANCD2 opposite strand protein — Q96PS1 (reviewed: Q96PS1)
Alternative names: Fanconi anemia group D2 protein opposite strand transcript protein
All UniProt accessions (2): Q96PS1, H0YBI7
UniProt curated annotations — full annotation on UniProt →
Function. Reduces testosterone levels by inhibiting steroidogenic enzymes and by promoting apoptosis in Leydig cells.
Subcellular location. Cytoplasm.
RefSeq proteins (2): NP_001158311, NP_775743 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR027966 | FANCD2OS | Family |
Pfam: PF15124
UniProt features (1 total): chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96PS1-F1 | 61.31 | 0.15 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 59 (showing top):
GOBP_NEGATIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS, CMYB_01, GOBP_NEGATIVE_REGULATION_OF_STEROID_METABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS, GOBP_KETONE_METABOLIC_PROCESS, GOBP_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_LIPID_METABOLIC_PROCESS, GOBP_REGULATION_OF_KETONE_METABOLIC_PROCESS, GOBP_STEROID_BIOSYNTHETIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_KETONE_BIOSYNTHETIC_PROCESS, GOBP_LIPID_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_STEROID_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_STEROID_METABOLIC_PROCESS
GO Biological Process (1): negative regulation of testosterone biosynthetic process (GO:2000225)
GO Molecular Function (0):
GO Cellular Component (1): cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| negative regulation of steroid biosynthetic process | 1 |
| testosterone biosynthetic process | 1 |
| negative regulation of small molecule metabolic process | 1 |
| regulation of testosterone biosynthetic process | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
320 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FANCD2OS | TRIML1 | Q8N9V2 | 514 |
| FANCD2OS | PRRT3 | Q5FWE3 | 479 |
| FANCD2OS | TATDN2 | Q93075 | 446 |
| FANCD2OS | CCDC152 | Q4G0S7 | 443 |
| FANCD2OS | CPNE9 | Q8IYJ1 | 433 |
| FANCD2OS | THUMPD3 | Q9BV44 | 419 |
| FANCD2OS | SSUH2 | Q9Y2M2 | 419 |
| FANCD2OS | SP2 | Q02086 | 414 |
| FANCD2OS | TMEM232 | C9JQI7 | 390 |
| FANCD2OS | LHFPL4 | Q7Z7J7 | 380 |
| FANCD2OS | RPUSD3 | Q6P087 | 370 |
| FANCD2OS | JAGN1 | Q8N5M9 | 359 |
| FANCD2OS | TTLL3 | Q9Y4R7 | 354 |
| FANCD2OS | NARS1 | O43776 | 345 |
| FANCD2OS | ERCC6L2 | Q5T890 | 336 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FANCD2OS | CNOT1 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (25): MINK1 (Affinity Capture-MS), RQCD1 (Affinity Capture-MS), CNOT3 (Affinity Capture-MS), MAP4K4 (Affinity Capture-MS), TROAP (Affinity Capture-MS), CNOT10 (Affinity Capture-MS), FBRS (Affinity Capture-MS), BTG3 (Affinity Capture-MS), RNF219 (Affinity Capture-MS), KIAA0232 (Affinity Capture-MS), CNOT6 (Affinity Capture-MS), CNOT7 (Affinity Capture-MS), DYRK1A (Affinity Capture-MS), CNOT11 (Affinity Capture-MS), TNKS1BP1 (Affinity Capture-MS)
ESM2 similar proteins: A0A1B0GTK4, A0JNL8, A2RU37, A4D1N5, B1A0U8, B1ANY3, F2Z398, G3V211, J3KSC0, J3QMY9, O14603, O93195, O95411, P03414, P0C7M3, P37200, P47939, P47940, P49671, P92561, Q02919, Q32KZ5, Q4G0G2, Q5SR53, Q5T0J3, Q5T6R2, Q66669, Q66HF0, Q6AWC8, Q6DGF6, Q6ZP68, Q6ZSR6, Q7L4S7, Q86UQ5, Q86Y29, Q8BGX4, Q8N326, Q8N4M7, Q8N6C7, Q8N769
Diamond homologs: Q32KZ5, Q96PS1, Q9D4K4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
97 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 4 |
| Likely pathogenic | 2 |
| Uncertain significance | 52 |
| Likely benign | 24 |
| Benign | 10 |
Top pathogenic / likely-pathogenic (6)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1685811 | NM_001018115.3(FANCD2):c.3777+1G>T | Pathogenic |
| 2807269 | NM_001018115.3(FANCD2):c.3693del (p.Phe1231fs) | Pathogenic |
| 456559 | NC_000003.12:g.(?10064723)(10149971_?)del | Pathogenic |
| 929670 | NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter) | Pathogenic |
| 1345612 | NC_000003.11:g.(?10132039)(10132856_?)del | Likely pathogenic |
| 2744051 | NM_001018115.3(FANCD2):c.3224+1G>C | Likely pathogenic |
SpliceAI
2283 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:10081344:A:AG | acceptor_gain | 1.0000 |
| 3:10081345:G:GT | acceptor_gain | 1.0000 |
| 3:10081345:GT:G | acceptor_gain | 1.0000 |
| 3:10081460:GCTTG:G | donor_gain | 1.0000 |
| 3:10081461:CTTGG:C | donor_loss | 1.0000 |
| 3:10081462:TTGG:T | donor_loss | 1.0000 |
| 3:10081463:TGGT:T | donor_loss | 1.0000 |
| 3:10081465:G:C | donor_loss | 1.0000 |
| 3:10081465:G:GG | donor_gain | 1.0000 |
| 3:10081466:T:TC | donor_loss | 1.0000 |
| 3:10081467:AA:A | donor_loss | 1.0000 |
| 3:10085811:GGA:G | acceptor_gain | 1.0000 |
| 3:10088821:A:AG | acceptor_gain | 1.0000 |
| 3:10088825:CAG:C | acceptor_loss | 1.0000 |
| 3:10088826:A:AG | acceptor_gain | 1.0000 |
| 3:10088826:A:G | acceptor_loss | 1.0000 |
| 3:10088827:G:GT | acceptor_gain | 1.0000 |
| 3:10088827:GT:G | acceptor_gain | 1.0000 |
| 3:10088827:GTA:G | acceptor_gain | 1.0000 |
| 3:10088827:GTAT:G | acceptor_gain | 1.0000 |
| 3:10088827:GTATC:G | acceptor_gain | 1.0000 |
| 3:10088949:AGGTA:A | donor_loss | 1.0000 |
| 3:10088951:G:C | donor_loss | 1.0000 |
| 3:10088952:T:G | donor_loss | 1.0000 |
| 3:10090314:C:CA | acceptor_gain | 1.0000 |
| 3:10090316:T:TA | acceptor_gain | 1.0000 |
| 3:10090318:T:TA | acceptor_gain | 1.0000 |
| 3:10081344:AGT:A | acceptor_gain | 0.9900 |
| 3:10081345:GTG:G | acceptor_gain | 0.9900 |
| 3:10081345:GTGT:G | acceptor_gain | 0.9900 |
AlphaMissense
1149 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:10104397:A:C | F126L | 0.984 |
| 3:10104397:A:T | F126L | 0.984 |
| 3:10104399:A:G | F126L | 0.984 |
| 3:10104470:A:T | V102D | 0.975 |
| 3:10104270:A:G | C169R | 0.972 |
| 3:10104321:A:G | C152R | 0.969 |
| 3:10104308:A:G | L156P | 0.966 |
| 3:10104398:A:G | F126S | 0.966 |
| 3:10104466:A:C | F103L | 0.966 |
| 3:10104466:A:T | F103L | 0.966 |
| 3:10104468:A:G | F103L | 0.966 |
| 3:10104720:A:G | W19R | 0.966 |
| 3:10104720:A:T | W19R | 0.966 |
| 3:10104305:C:G | R157P | 0.965 |
| 3:10104262:A:C | F171L | 0.962 |
| 3:10104262:A:T | F171L | 0.962 |
| 3:10104264:A:G | F171L | 0.962 |
| 3:10104274:T:A | K167N | 0.960 |
| 3:10104274:T:G | K167N | 0.960 |
| 3:10104285:C:G | A164P | 0.954 |
| 3:10104756:A:G | W7R | 0.954 |
| 3:10104756:A:T | W7R | 0.954 |
| 3:10104296:A:G | L160P | 0.952 |
| 3:10104275:T:A | K167I | 0.951 |
| 3:10104488:A:T | L96H | 0.951 |
| 3:10104290:A:G | L162P | 0.949 |
| 3:10104279:A:C | Y166D | 0.948 |
| 3:10104288:A:C | Y163D | 0.945 |
| 3:10104488:A:G | L96P | 0.941 |
| 3:10104401:G:T | A125D | 0.939 |
dbSNP variants (sampled 300 via entrez): RS1000088984 (3:10095431 A>C), RS1000094692 (3:10103647 T>C), RS1000142282 (3:10108712 G>A), RS1000158209 (3:10106464 G>A), RS1000254003 (3:10085865 T>A), RS1000278037 (3:10106799 G>A,T), RS1000437618 (3:10094211 T>C), RS1000474147 (3:10107452 A>AT), RS1000704082 (3:10101524 G>A,T), RS1000881167 (3:10082400 C>T), RS1000992041 (3:10082147 A>G), RS1001077491 (3:10081282 C>A,T), RS1001129479 (3:10100783 A>G), RS1001285026 (3:10094769 G>A), RS1001355687 (3:10107444 C>G)
Disease associations
OMIM: gene MIM:621082 | disease phenotypes: MIM:227650, MIM:227646, MIM:193300, MIM:263400
GenCC curated gene-disease
Mondo (5): Fanconi anemia (MONDO:0019391), Fanconi anemia complementation group D2 (MONDO:0009214), hereditary breast ovarian cancer syndrome (MONDO:0003582), von Hippel-Lindau disease (MONDO:0008667), Chuvash polycythemia (MONDO:0009892)
Orphanet (4): Fanconi anemia (Orphanet:84), Hereditary breast and/or ovarian cancer syndrome (Orphanet:145), Chuvash erythrocytosis (Orphanet:238557), Von Hippel-Lindau disease (Orphanet:892)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002422_5 | Alzheimer’s disease | 2.000000e-06 |
| GCST003264_1052 | Post bronchodilator FEV1/FVC ratio | 3.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004713 | FEV/FVC ratio |
MeSH disease descriptors (4)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D005199 | Fanconi Anemia | C15.378.050.085.080.280; C15.378.190.223.500.500.280; C16.320.077.280; C18.452.284.280 |
| 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 |
| D006623 | von Hippel-Lindau Disease | C10.562.925; C14.907.077.925; C16.131.077.245.750; C16.320.184.750 |
| C563918 | Erythrocytosis, Familial, 2 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
5 total (human), top 5 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| Arbutin | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Valproic Acid | increases methylation | 1 |
Clinical trials (associated diseases)
134 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02562170 | PHASE4 | COMPLETED | Protexa® Versus TiLoopBra® in Immediate Breast Reconstruction- A Pilot Study |
| NCT06519786 | PHASE3 | UNKNOWN | Safety and Efficacy of Metformin for Treatment of Cytopenia in Children and Adolescents With Fanconi Anemia |
| NCT00673335 | PHASE3 | COMPLETED | Letrozole in Preventing Breast Cancer in Postmenopausal Women With a BRCA1 or BRCA2 Mutation |
| NCT00685256 | PHASE3 | COMPLETED | Standard Genetic Counseling With or Without a Decision Guide in Improving Communication Between Mothers Undergoing BRCA1/2 Testing and Their Minor-Age Children |
| NCT03162276 | PHASE3 | UNKNOWN | Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers |
| NCT00000603 | PHASE2 | COMPLETED | Cord Blood Stem Cell Transplantation Study (COBLT) |
| NCT00001749 | PHASE2 | COMPLETED | Medical Treatment for Diamond Blackfan Anemia |
| NCT00004787 | PHASE2 | COMPLETED | Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes |
| NCT00053989 | PHASE2 | COMPLETED | NMA Allogeneic Hematopoietic Cell Transplant in Hematologic Cancer/Disorders |
| NCT00084695 | PHASE2 | UNKNOWN | Umbilical Cord Blood for Stem Cell Transplantation in Treating Young Patients With Malignant or Nonmalignant Diseases |
| NCT00258427 | PHASE2 | COMPLETED | Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia |
| NCT00453388 | PHASE2 | COMPLETED | Fludarabine Phosphate, Cyclophosphamide, and Total-Body Irradiation Followed by Donor Bone Marrow Transplant, Mycophenolate Mofetil, and Cyclosporine in Treating Patients With Fanconi Anemia |
| NCT01071239 | PHASE2 | COMPLETED | Hematopoietic Stem Cell Transplant for Fanconi Anemia |
| NCT02143830 | PHASE2 | RECRUITING | HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy |
| NCT02931071 | PHASE2 | COMPLETED | Clinical Phase II Trial to Evaluate CD34+ Cells Mobilization and Collection in Patients With Fanconi Anemia for Subsequent Transduction With a Lentiviral Vector Carring FANCA Gene. FANCOSTEM-1 |
| NCT03206086 | PHASE2 | ACTIVE_NOT_RECRUITING | Eltrombopag for People With Fanconi Anemia |
| NCT03398824 | PHASE2 | COMPLETED | Pilot Study of Metformin for Patients With Fanconi Anemia |
| NCT03476330 | PHASE2 | COMPLETED | Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia |
| NCT03579875 | PHASE2 | RECRUITING | Alpha/Beta TCD HCT in Patients With Inherited BMF Disorders |
| NCT03600909 | PHASE2 | TERMINATED | A Study of the Effect of Blood Stem Cell Transplant After Chemotherapy Alone in Patients With Fanconi Anemia |
| NCT04232085 | PHASE2 | RECRUITING | Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures |
| NCT06045052 | PHASE2 | COMPLETED | Eltrombopag for Treatment of Fanconi Anemia |
| NCT00253539 | PHASE2 | COMPLETED | Arzoxifene or Tamoxifen in Preventing Breast Cancer in Premenopausal Women at High Risk for Breast Cancer |
| NCT00305695 | PHASE2 | COMPLETED | Zoledronate or Observation in Maintaining Bone Mineral Density in Patients Who Are Undergoing Surgery to Remove Both Ovaries |
| NCT00321633 | PHASE2 | COMPLETED | Carboplatin or Docetaxel in Treating Women With Metastatic Genetic Breast Cancer |
| NCT01333748 | PHASE2 | COMPLETED | Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian Cancer |
| NCT01367639 | PHASE2 | COMPLETED | Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers |
| NCT00001399 | PHASE1 | COMPLETED | Gene Therapy for the Treatment of Fanconi’s Anemia Type C |
| NCT00005896 | PHASE1 | UNKNOWN | Phase I Pilot Study of CD34 Enriched, Fanconi’s Anemia Complementation Group C Gene Transduced Autologous Peripheral Blood Stem Cell Transplantation in Patients With Fanconi’s Anemia |
| NCT00006127 | PHASE1 | UNKNOWN | Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi’s Anemia |
| NCT00093743 | PHASE1 | COMPLETED | Low-Dose Total-Body Irradiation and Fludarabine Phosphate Followed by Unrelated Donor Stem Cell Transplant in Treating Patients With Fanconi Anemia |
| NCT00243399 | PHASE1 | COMPLETED | Oxandrolone for the Treatment of Bone Marrow Aplasia in Fanconi Anemia |
| NCT00272857 | PHASE1 | COMPLETED | Bone Marrow Cell Gene Transfer in Individuals With Fanconi Anemia |
| NCT00317876 | PHASE1 | COMPLETED | Cyclophosphamide in Treating Patients Who Are Undergoing a Donor Bone Marrow Transplant for Fanconi’s Anemia |
| NCT00586274 | PHASE1 | TERMINATED | Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT |
| NCT01331018 | PHASE1 | TERMINATED | Gene Therapy for Fanconi Anemia |
| NCT01720147 | PHASE1 | COMPLETED | Quercetin in Children With Fanconi Anemia; a Pilot Study |
| NCT01917708 | PHASE1 | COMPLETED | Bone Marrow Transplant With Abatacept for Non-Malignant Diseases |
| NCT00535119 | PHASE1 | COMPLETED | Veliparib, Carboplatin, and Paclitaxel in Treating Patients With Advanced Solid Cancer |
| NCT00892736 | PHASE1 | COMPLETED | Veliparib in Treating Patients With Malignant Solid Tumors That Do Not Respond to Previous Therapy |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Chuvash polycythemia, Fanconi anemia, Fanconi anemia complementation group D2, hereditary breast ovarian cancer syndrome, von Hippel-Lindau disease