FANCL

Summary

FANCL (FA complementation group L, HGNC:20748) is a protein-coding gene on chromosome 2p16.1, encoding E3 ubiquitin-protein ligase FANCL (Q9NW38). Ubiquitin ligase protein that mediates monoubiquitination of FANCD2 in the presence of UBE2T, a key step in the DNA damage pathway. It is a selective cancer dependency (DepMap: 11.3% of cell lines).

This gene encodes a ubiquitin ligase that is a member of the Fanconi anemia complementation group (FANC). Members of this group are related by their assembly into a common nuclear protein complex rather than by sequence similarity. This gene encodes the protein for complementation group L that mediates monoubiquitination of FANCD2 as well as FANCI. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 55120 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Fanconi anemia complementation group L (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 46
• Clinical variants (ClinVar): 889 total — 55 pathogenic, 58 likely-pathogenic
• Phenotypes (HPO): 133
• Cancer dependency (DepMap): dependent in 11.3% of screened cell lines
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_018062

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20748
Approved symbol	FANCL
Name	FA complementation group L
Location	2p16.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10335, FAAP43, Pog
Ensembl gene	ENSG00000115392
Ensembl biotype	protein_coding
OMIM	608111
Entrez	55120

Gene structure

Transcript identifiers

Ensembl transcripts: 160 — 60 nonsense_mediated_decay, 58 retained_intron, 37 protein_coding, 5 protein_coding_CDS_not_defined

ENST00000233741, ENST00000402135, ENST00000403295, ENST00000403676, ENST00000417361, ENST00000427708, ENST00000446381, ENST00000449070, ENST00000470506, ENST00000481670, ENST00000696305, ENST00000696306, ENST00000696307, ENST00000696308, ENST00000696314, ENST00000696315, ENST00000696316, ENST00000696317, ENST00000696318, ENST00000696319, ENST00000696320, ENST00000696321, ENST00000696324, ENST00000696325, ENST00000696326, ENST00000696338, ENST00000696339, ENST00000696340, ENST00000696341, ENST00000696342, ENST00000696343, ENST00000696344, ENST00000696345, ENST00000696346, ENST00000696347, ENST00000696358, ENST00000696359, ENST00000696360, ENST00000696361, ENST00000696362, ENST00000696363, ENST00000696364, ENST00000696371, ENST00000696372, ENST00000696373, ENST00000696374, ENST00000696375, ENST00000696376, ENST00000696377, ENST00000696378, ENST00000696379, ENST00000696380, ENST00000696394, ENST00000696395, ENST00000696396, ENST00000696397, ENST00000696398, ENST00000696399, ENST00000696400, ENST00000696401, ENST00000696402, ENST00000696403, ENST00000696404, ENST00000696409, ENST00000696410, ENST00000696411, ENST00000696412, ENST00000696413, ENST00000696414, ENST00000696415, ENST00000696416, ENST00000696417, ENST00000696418, ENST00000696419, ENST00000696432, ENST00000696433, ENST00000696434, ENST00000696435, ENST00000696436, ENST00000696437, ENST00000696438, ENST00000696439, ENST00000696440, ENST00000696454, ENST00000696455, ENST00000696456, ENST00000696457, ENST00000696458, ENST00000696459, ENST00000696460, ENST00000696461, ENST00000696467, ENST00000696468, ENST00000696469, ENST00000696470, ENST00000696471, ENST00000696472, ENST00000696473, ENST00000696474, ENST00000696475, ENST00000696476, ENST00000696477, ENST00000696478, ENST00000696492, ENST00000696493, ENST00000696494, ENST00000696495, ENST00000696496, ENST00000696497, ENST00000696498, ENST00000696499, ENST00000696508, ENST00000696509, ENST00000696510, ENST00000696511, ENST00000696527, ENST00000696528, ENST00000696529, ENST00000696530, ENST00000696531, ENST00000696532, ENST00000696542, ENST00000696543, ENST00000696544, ENST00000696545, ENST00000696546, ENST00000696547, ENST00000696548, ENST00000696549, ENST00000696550, ENST00000696551, ENST00000696564, ENST00000696565, ENST00000696566, ENST00000696567, ENST00000696568, ENST00000696569, ENST00000696570, ENST00000696594, ENST00000696595, ENST00000696596, ENST00000696597, ENST00000696598, ENST00000696619, ENST00000696620, ENST00000696621, ENST00000696622, ENST00000696623, ENST00000696624, ENST00000696625, ENST00000696634, ENST00000696635, ENST00000696636, ENST00000696637, ENST00000696638, ENST00000696639, ENST00000909681, ENST00000909682, ENST00000916569, ENST00000916570

RefSeq mRNA: 4 — MANE Select: NM_018062 NM_001114636, NM_001374615, NM_001410792, NM_018062

CCDS: CCDS1860, CCDS46294, CCDS92759, CCDS92760

Canonical transcript exons

ENST00000233741 — 14 exons

Exon	Start	End
ENSE00001600638	58241218	58241325
ENSE00001670991	58229814	58229874
ENSE00001756119	58232054	58232112
ENSE00003722740	58226728	58226784
ENSE00003744159	58221942	58222042
ENSE00003967340	58163434	58163517
ENSE00003967342	58160108	58160179
ENSE00003967353	58159247	58159800
ENSE00003967354	58161522	58161638
ENSE00003967356	58163029	58163074
ENSE00003967358	58165724	58165874
ENSE00003967572	58198594	58198662
ENSE00003967574	58204130	58204226
ENSE00003967576	58162866	58162947

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 96.22.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.2235 / max 683.1810, expressed in 1767 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
28550	23.2235	1767

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pituitary gland	UBERON:0000007	96.22	gold quality
adenohypophysis	UBERON:0002196	96.05	gold quality
calcaneal tendon	UBERON:0003701	96.04	gold quality
right adrenal gland cortex	UBERON:0035827	95.56	gold quality
right adrenal gland	UBERON:0001233	95.43	gold quality
corpus callosum	UBERON:0002336	95.07	gold quality
adrenal cortex	UBERON:0001235	94.92	gold quality
adrenal tissue	UBERON:0018303	94.87	gold quality
left adrenal gland cortex	UBERON:0035825	94.77	gold quality
left adrenal gland	UBERON:0001234	94.59	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	94.21	gold quality
tibia	UBERON:0000979	94.08	gold quality
secondary oocyte	CL:0000655	93.90	gold quality
adrenal gland	UBERON:0002369	93.88	gold quality
right uterine tube	UBERON:0001302	93.64	gold quality
pons	UBERON:0000988	93.61	gold quality
spinal cord	UBERON:0002240	93.15	gold quality
embryo	UBERON:0000922	93.02	gold quality
body of pancreas	UBERON:0001150	92.95	gold quality
germinal epithelium of ovary	UBERON:0001304	92.86	gold quality
ventricular zone	UBERON:0003053	92.72	gold quality
substantia nigra pars compacta	UBERON:0001965	92.51	gold quality
Brodmann (1909) area 23	UBERON:0013554	92.37	gold quality
endometrium	UBERON:0001295	92.19	gold quality
cortical plate	UBERON:0005343	92.07	gold quality
ganglionic eminence	UBERON:0004023	92.05	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	92.00	gold quality
body of uterus	UBERON:0009853	91.94	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.93	gold quality
hypothalamus	UBERON:0001898	91.91	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-7037	yes	323.74
E-ANND-3	yes	6.33
E-CURD-112	no	307.73
E-GEOD-81547	no	4.96

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

34 targeting FANCL, 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-188-3P	100.00	68.76	1240
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-1179	99.71	68.70	1040
HSA-MIR-587	99.64	70.86	2611
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-488-5P	99.28	68.12	821
HSA-MIR-520E-5P	99.27	68.90	1513
HSA-MIR-3191-5P	99.24	66.52	1722
HSA-MIR-146A-3P	99.13	68.99	1881
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-6074	98.89	69.64	2187
HSA-MIR-412-3P	98.86	66.89	712
HSA-MIR-6754-3P	98.84	66.60	889
HSA-MIR-603	98.58	68.28	1603
HSA-MIR-548AO-5P	98.55	69.57	1362
HSA-MIR-548AX	98.55	69.58	1362
HSA-MIR-4457	98.09	67.12	1274
HSA-MIR-6782-3P	97.60	67.75	931
HSA-MIR-890	97.47	68.67	982
HSA-MIR-643	97.35	67.91	805

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 11.3% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 22)

• Deficiency of Fancl (also called Pog) is the cause of gcd mouse, which has a reduced number of primordial germ cells during the embryonic stage. (PMID:12417526)
• FANCL is necessary for primordial germ cell proliferation during the embryonic stage but not necessary for spermatogonia proliferation in adulthood. Thus, mouse FancL-/- males are infertile at 7 to 12 weeks but gain fertility thereafter. (PMID:12606378)
• data suggest that PHF9 has a crucial role in the Fanconi anemia pathway as the likely catalytic subunit required for monoubiquitination of FANCD2 (PMID:12973351)
• 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)
• Abnormal FANCL expression is the cause leading to a defective Ranconi anemia-BRCA pathway, conferring sensitivity of a lung cancer cell line to mitomycin C> (PMID:17106252)
• the first report to describe hypermethylation of FANCC in leukemia (PMID:18607065)
• Upon the occurrence of DNA damage, FANCI becomes monoubiquitinated on Lys-523 by the UBE2T-FANCL pair. (PMID:19589784)
• results rule out a major role of FANCL in familial breast cancer susceptibility (PMID:19737859)
• expression of a novel splice variant of FA complementation group L (FANCL), named FAVL, can impair the FA pathway in non-FA tumor cells and act as a tumor promoting factor (PMID:20407210)
• FANCL is associated with acute lung injury in mice (PMID:21297076)
• genetic diversity in FANCA, FANCC and FANCL does not support an association of these genes with cervical cancer susceptibility in the Swedish population. (PMID:21543111)
• FA DNA repair genes, FANCD2, FANCL, and FANCC, are transcriptionally upregulated differently in melanoma compared with non-melanoma skin cancer (PMID:21697891)
• Suppression of FANCL expression in normal CD34(+) stem and progenitor cells results in fewer beta-catenin active cells and inhibits expansion of multilineage progenitors. (PMID:22653977)
• FAVL elevation can increase the tumorigenic potential of bladder cancer cells, including the invasive potential that confers the development of advanced bladder cancer. (PMID:22828653)
• a signal transduction pathway involved in self-renewal and survival of hematopoietic stem cells also functions to stabilize FANCL and suggesting that FANCL participates directly in support of stem cell function. (PMID:23783032)
• Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association (PMID:25754594)
• A novel homozygous mutation c.822_823insCTTTCAGG (p.Asp275LeufsX13) in the FANCL gene identified in a Chinese patient with Fanconi anemia. (PMID:28419882)
• A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India. (PMID:31513304)
• FANCL gene mutations in premature ovarian insufficiency. (PMID:32048394)
• Characterization of FANCL variants observed in patient cancer cells. (PMID:32420600)
• Severe telomere shortening in Fanconi anemia complementation group L. (PMID:33394227)
• Autosomal recessive systemic microangiopathy associated with FANCL Fanconi anaemia. (PMID:37451692)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	fancl	ENSDARG00000007885
mus_musculus	Fancl	ENSMUSG00000004018
rattus_norvegicus	Fancl	ENSRNOG00000027249
drosophila_melanogaster	Fancl	FBGN0037781

Protein

Protein identifiers

E3 ubiquitin-protein ligase FANCL — Q9NW38 (reviewed: Q9NW38)

Alternative names: Fanconi anemia group L protein, Fanconi anemia-associated polypeptide of 43 kDa, RING-type E3 ubiquitin transferase FANCL

All UniProt accessions (61): Q9NW38, A0A087X0C0, A0A8Q3SIE7, A0A8Q3SIH1, A0A8Q3SIH3, A0A8Q3SIK5, A0A8Q3SIK6, A0A8Q3SIK9, A0A8Q3SIL3, A0A8Q3SIM1, A0A8Q3SIM8, A0A8Q3SIP2, A0A8Q3SIP3, A0A8Q3SIQ5, A0A8Q3SIQ9, A0A8Q3SIR8, A0A8Q3SIR9, A0A8Q3SIS2, A0A8Q3SIS7, A0A8Q3SIV1, A0A8Q3SIV2, A0A8Q3SIX5, A0A8Q3SJE4, A0A8Q3WL63, A0A8Q3WL68, A0A8Q3WL81, A0A8Q3WL86, A0A8Q3WL92, A0A8Q3WL94, A0A8Q3WL96, A0A8Q3WLA2, A0A8Q3WLA4, A0A8Q3WLA5, A0A8Q3WLA7, A0A8Q3WLB5, A0A8Q3WLB8, A0A8Q3WLC1, A0A8Q3WLC2, A0A8Q3WLD6, A0A8Q3WLE2, A0A8Q3WLF1, A0A8Q3WLF5, A0A8Q3WLH7, A0A8Q3WLU8, A0A8Q3WLW1, A0A8Q3WM82, A0A8Q3WM87, A0A8Q3WM99, A0A8Q3WMB2, A0A8Q3WMB7, A0A8Q3WMD3, A0A8Q3WMD8, A0A8Q3WMF1, A0A8Q3WMF8, A0A8Q3WMH1, B4DN24, B5MC31, B5MCZ6, C9J512, C9JZA9, H7C1M0

UniProt curated annotations — full annotation on UniProt →

Function. Ubiquitin ligase protein that mediates monoubiquitination of FANCD2 in the presence of UBE2T, a key step in the DNA damage pathway. Also mediates monoubiquitination of FANCI. May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth.

Subunit / interactions. Interacts with GGN. Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients. In complex with FANCF, FANCA and FANCG, but not with FANCC, nor FANCE, interacts with HES1; this interaction may be essential for the stability and nuclear localization of FA core complex proteins. Interacts with FANCI. Directly interacts (via the RING-type zinc finger) with UBE2T and UBE2W.

Subcellular location. Cytoplasm. Nucleus.

Post-translational modifications. The RING-type zinc finger domain is monoubiquitinated in the presence of UBE2T and UBE2W.

Disease relevance. Fanconi anemia complementation group L (FANCL) [MIM:614083] 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 UBC-RWD region (URD) region mediates interaction with FANCI and FANCD2.

Pathway. Protein modification; protein ubiquitination.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NW38-1	1	yes
Q9NW38-2	2

RefSeq proteins (4): NP_001108108, NP_001361544, NP_001397721, NP_060532* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR016135	UBQ-conjugating_enzyme/RWD	Homologous_superfamily
IPR019162	FancL_WD-rpt_cont_dom	Domain
IPR026848	Fancl	Family
IPR026850	FANCL_C	Domain
IPR043003	FANCL_d3_sf	Homologous_superfamily
IPR043898	FANCL_d2	Domain
IPR044037	FANCL_d3	Domain

Pfam: PF09765, PF11793, PF18890, PF18891

Enzyme classification (BRENDA):

• EC 2.3.2.27 — RING-type E3 ubiquitin transferase (BRENDA: 28 organisms, 138 substrates, 10 inhibitors, 1 Km, 1 kcat entries)

Substrate kinetics (BRENDA)

1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
[UBE2W]-S-UBIQUITINYL-L-CYSTEINE	0.3014	1

UniProt features (55 total): mutagenesis site 16, strand 11, binding site 8, helix 8, turn 4, initiator methionine 1, chain 1, modified residue 1, splice variant 1, sequence variant 1, zinc finger region 1, region of interest 1, sequence conflict 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
3ZQS	X-RAY DIFFRACTION	2
4CCG	X-RAY DIFFRACTION	2.4
7KZP	ELECTRON MICROSCOPY	3.1
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-Q9NW38-F1	91.36	0.77

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 (8): 359; 362; 307; 310; 324; 329; 334; 337

Post-translational modifications (1): 2

Mutagenesis-validated functional residues (16):

Position	Phenotype
127–128	no effect on interaction with fanci and fancd2.
149	no effect on interaction with fanci and fancd2; when associated with a-166.
158–159	abolishes ube2t charging.
166	does not affect interaction with fanci and fancd2; when associated with a-149.
212–214	impairs interaction with fanci and fancd2.
248	impairs interaction with fanci and fancd2; when associated with a-252, a-254 and a-265.
252	impairs interaction with fanci and fancd2; when associated with a-248, a-254 and a-265.
254	impairs interaction with fanci and fancd2; when associated with a-248, a-252 and a-265.
265	impairs interaction with fanci and fancd2; when associated with a-248, a-252 and a-254.
307	abolishes ubiquitin ligase activity.
309	loss of interaction with ube2t.
310	abolishes ubiquitin ligase activity.
311	loss of interaction with ube2t.
341	loss of interaction with ube2t.
341	abolishes interaction with ube2t and ubiquitin ligase activity.
359	abolishes ubiquitin ligase activity.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-6783310	Fanconi Anemia Pathway
R-HSA-9833482	PKR-mediated signaling

MSigDB gene sets: 437 (showing top): PID_FANCONI_PATHWAY, TGCGCANK_UNKNOWN, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GCM_ZNF198, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, KAUFFMANN_DNA_REPAIR_GENES, MATHEW_FANCONI_ANEMIA_GENES, GOBP_PROTEIN_MONOUBIQUITINATION, GOBP_DNA_DAMAGE_RESPONSE, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_INTERSTRAND_CROSS_LINK_REPAIR, FISCHER_DREAM_TARGETS, REACTOME_FANCONI_ANEMIA_PATHWAY, KEGG_UBIQUITIN_MEDIATED_PROTEOLYSIS, REACTOME_DNA_REPAIR

GO Biological Process (7): DNA repair (GO:0006281), protein monoubiquitination (GO:0006513), DNA damage response (GO:0006974), gamete generation (GO:0007276), interstrand cross-link repair (GO:0036297), regulation of cell population proliferation (GO:0042127), protein ubiquitination (GO:0016567)

GO Molecular Function (8): ubiquitin-protein transferase activity (GO:0004842), zinc ion binding (GO:0008270), ubiquitin protein ligase binding (GO:0031625), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), ligase activity (GO:0016874), metal ion binding (GO:0046872)

GO Cellular Component (9): chromatin (GO:0000785), nucleus (GO:0005634), nuclear envelope (GO:0005635), nucleoplasm (GO:0005654), cytosol (GO:0005829), nuclear body (GO:0016604), Fanconi anaemia nuclear complex (GO:0043240), cytoplasm (GO:0005737), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
DNA Repair	1
Antimicrobial mechanism of IFN-stimulated genes	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
catalytic activity	2
DNA metabolic process	1
DNA damage response	1
protein ubiquitination	1
cellular response to stress	1
sexual reproduction	1
multicellular organismal reproductive process	1
DNA repair	1
cell population proliferation	1
regulation of cellular process	1
protein modification by small protein conjugation	1
ubiquitin-like protein transferase activity	1
transition metal ion binding	1
ubiquitin-like protein ligase binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
binding	1
cation binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nucleus	1
endomembrane system	1
organelle envelope	1
nuclear lumen	1
cytoplasm	1
nucleoplasm	1
intracellular membraneless organelle	1
nuclear protein-containing complex	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1243 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FANCL	FANCE	Q9HB96	999
FANCL	FANCM	Q8IYD8	999
FANCL	FANCC	Q00597	999
FANCL	FANCF	Q9NPI8	999
FANCL	FAAP100	Q0VG06	999
FANCL	FANCG	O15287	999
FANCL	FANCA	O15360	999
FANCL	FANCB	Q8NB91	999
FANCL	UBE2T	Q9NPD8	999
FANCL	FANCD2	Q9BXW9	988
FANCL	FANCI	Q9NVI1	988
FANCL	F6S8H2	F6S8H2	967
FANCL	FAAP24	Q9BTP7	965
FANCL	UBE2W	Q96B02	947
FANCL	RAD51C	O43502	916

IntAct

181 interactions, top by confidence:

A	B	Type	Score
FANCA	FANCG	psi-mi:“MI:0914”(association)	0.960
FANCA	FANCG	psi-mi:“MI:0403”(colocalization)	0.960
POLR2D	POLR2C	psi-mi:“MI:0914”(association)	0.730
FANCL	CHCHD3	psi-mi:“MI:0915”(physical association)	0.720
SNX7	SNX4	psi-mi:“MI:0914”(association)	0.670
VSIG1	TTI1	psi-mi:“MI:0914”(association)	0.640
RBM45	FANCL	psi-mi:“MI:0915”(physical association)	0.560
FANCL	GRN	psi-mi:“MI:0915”(physical association)	0.560
TFCP2	FANCL	psi-mi:“MI:0915”(physical association)	0.560
FANCL	IHO1	psi-mi:“MI:0915”(physical association)	0.560
DOCK8	FANCL	psi-mi:“MI:0915”(physical association)	0.560
LZTS2	FANCL	psi-mi:“MI:0915”(physical association)	0.560
KIFC3	FANCL	psi-mi:“MI:0915”(physical association)	0.560
FANCL	EIF4ENIF1	psi-mi:“MI:0915”(physical association)	0.560
RIMBP3	FANCL	psi-mi:“MI:0915”(physical association)	0.560
IKZF3	FANCL	psi-mi:“MI:0915”(physical association)	0.560
SSX2IP	FANCL	psi-mi:“MI:0915”(physical association)	0.560
FANCL	RBM45	psi-mi:“MI:0915”(physical association)	0.560
IHO1	FANCL	psi-mi:“MI:0915”(physical association)	0.560
FANCL	DOCK8	psi-mi:“MI:0915”(physical association)	0.560
FANCL	KIFC3	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (197): FANCL (Affinity Capture-Western), FANCL (Two-hybrid), FANCL (Two-hybrid), FANCL (Two-hybrid), FANCL (Two-hybrid), FANCL (Two-hybrid), EIF4ENIF1 (Two-hybrid), DOCK8 (Two-hybrid), LZTS2 (Two-hybrid), RIMBP3 (Two-hybrid), SSX2IP (Two-hybrid), RBM45 (Two-hybrid), CCDC36 (Two-hybrid), C17orf70 (Affinity Capture-Western), FANCL (Affinity Capture-MS)

ESM2 similar proteins: A2AGL3, A2RT67, A2RUS2, A4IFQ0, A6QQW8, B0LPN4, E9Q401, O94955, P30957, P48553, Q08CZ0, Q13769, Q15413, Q28C34, Q3TLI0, Q3UBZ5, Q568D5, Q5F361, Q5RAQ5, Q5REX9, Q5ZJK1, Q5ZML0, Q68FX7, Q6AXU7, Q6DJ78, Q6GPL9, Q6NRC7, Q6NRD0, Q6P7Q1, Q6SP92, Q7Z3V4, Q7ZUV0, Q7ZYD9, Q8BHY8, Q8BKT7, Q8BM85, Q8K3W0, Q8N6S4, Q8TEA7, Q8WN69

Diamond homologs: Q9CR14, Q9NW38

SIGNOR signaling

8 interactions.

A	Effect	B	Mechanism
FANCL	“form complex”	“Fanconi anemia core complex”	binding
FANCL	“up-regulates activity”	FANCD2	ubiquitination
Ub:E2	“up-regulates activity”	FANCL	ubiquitination
FANCL	“up-regulates activity”	CTNNB1	ubiquitination
FANCL	“down-regulates quantity”	UBE2T	ubiquitination
UBE2T	“up-regulates activity”	FANCL	ubiquitination
FANCL	“up-regulates activity”	FANCI	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 81 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
Fanconi Anemia Pathway	6	34.8×	1e-05
PKR-mediated signaling	7	20.6×	1e-05
TP53 Regulates Transcription of DNA Repair Genes	5	18.9×	9e-04
Signaling by Nuclear Receptors	5	10.6×	5e-03
Diseases of signal transduction by growth factor receptors and second messengers	6	7.1×	7e-03

GO biological processes:

GO term	Partners	Fold	FDR
interstrand cross-link repair	6	34.6×	2e-05
epidermal growth factor receptor signaling pathway	5	16.5×	5e-03

Disease & clinical

Cancer significance

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	55
Likely pathogenic	58
Uncertain significance	343
Likely benign	325
Benign	46

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1071534	NM_018062.4(FANCL):c.813_816del (p.His272fs)	Pathogenic
1319324	NM_018062.4(FANCL):c.565C>T (p.Gln189Ter)	Pathogenic
1332720	NM_018062.4(FANCL):c.746_756del (p.Pro249fs)	Pathogenic
1376735	NM_018062.4(FANCL):c.385_397del (p.Ala129fs)	Pathogenic
1396207	NM_018062.4(FANCL):c.295C>T (p.Gln99Ter)	Pathogenic
1456615	NC_000002.11:g.(?58425719)(58433394_?)del	Pathogenic
1460344	NM_018062.4(FANCL):c.933T>A (p.Tyr311Ter)	Pathogenic
1679872	NM_018062.4(FANCL):c.761_771del (p.Leu254fs)	Pathogenic
1988318	NM_018062.4(FANCL):c.1A>C (p.Met1Leu)	Pathogenic
1992250	NM_018062.4(FANCL):c.320del (p.Pro107fs)	Pathogenic
2067813	NM_018062.4(FANCL):c.558_561dup (p.Ser188delinsLeuTer)	Pathogenic
2089737	NM_018062.4(FANCL):c.885_886insA (p.Ala296fs)	Pathogenic
209076	NM_018062.4(FANCL):c.268del (p.Leu90fs)	Pathogenic
2194529	NM_018062.4(FANCL):c.659del (p.Pro220fs)	Pathogenic
241250	NM_018062.4(FANCL):c.426_438del (p.Asp142fs)	Pathogenic
2426430	NC_000002.11:g.(?58468333)(58468448_?)del	Pathogenic
2426431	NC_000002.11:g.(?58459169)(58468448_?)del	Pathogenic
2426432	NC_000002.11:g.(?58386900)(58459267_?)del	Pathogenic
2428153	NM_018062.4(FANCL):c.369G>A (p.Trp123Ter)	Pathogenic
2535	NM_018062.3(FANCL):c.822-15_822-9delins177	Pathogenic
2701067	NM_018062.4(FANCL):c.472del (p.Tyr158fs)	Pathogenic
2730668	NM_018062.4(FANCL):c.940C>T (p.Gln314Ter)	Pathogenic
2732202	NC_000002.12:g.58232113del	Pathogenic
2732757	NM_018062.4(FANCL):c.235del (p.Asp79fs)	Pathogenic
2745747	NM_018062.4(FANCL):c.384T>G (p.Tyr128Ter)	Pathogenic
2767289	NM_018062.4(FANCL):c.231_232del (p.Ser77_Pro78insTer)	Pathogenic
2821813	NM_018062.4(FANCL):c.842T>G (p.Leu281Ter)	Pathogenic
2825484	NM_018062.4(FANCL):c.455_456del (p.Leu152fs)	Pathogenic
2832950	NC_000002.12:g.58229869_58229884AAT[2]CTAAAATTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAATAATCTAAAATTTT[1]	Pathogenic
2840749	NM_018062.4(FANCL):c.639_642dup (p.Glu215delinsThrTer)	Pathogenic

SpliceAI

2889 predictions. Top by Δscore:

Variant	Effect	Δscore
2:58162864:A:AC	donor_gain	1.0000
2:58162865:C:CC	donor_gain	1.0000
2:58162865:CAGA:C	donor_gain	1.0000
2:58221940:A:AC	donor_gain	1.0000
2:58221941:C:CC	donor_gain	1.0000
2:58221944:A:AC	donor_gain	1.0000
2:58221944:AT:A	donor_gain	1.0000
2:58221944:ATC:A	donor_gain	1.0000
2:58221944:ATCC:A	donor_gain	1.0000
2:58221945:T:C	donor_gain	1.0000
2:58221964:T:C	donor_gain	1.0000
2:58241216:A:AT	donor_loss	1.0000
2:58241217:C:CT	donor_loss	1.0000
2:58160178:CA:C	acceptor_gain	0.9900
2:58160180:C:CC	acceptor_gain	0.9900
2:58160189:T:C	acceptor_gain	0.9900
2:58160189:T:TC	acceptor_gain	0.9900
2:58161516:TTTTA:T	donor_loss	0.9900
2:58161517:TTTA:T	donor_loss	0.9900
2:58161518:TTAC:T	donor_loss	0.9900
2:58161519:TAC:T	donor_loss	0.9900
2:58161520:A:AT	donor_loss	0.9900
2:58161521:CCTC:C	donor_loss	0.9900
2:58161635:AATCC:A	acceptor_loss	0.9900
2:58161636:ATCCT:A	acceptor_loss	0.9900
2:58161637:TCC:T	acceptor_loss	0.9900
2:58161640:T:A	acceptor_loss	0.9900
2:58162857:AAAAC:A	donor_loss	0.9900
2:58162858:AAACT:A	donor_loss	0.9900
2:58162859:AACT:A	donor_loss	0.9900

AlphaMissense

2478 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:58160125:A:G	C359R	0.996
2:58161623:A:G	C307R	0.995
2:58165738:C:G	R226P	0.995
2:58161614:A:G	C310R	0.994
2:58161621:A:C	C307W	0.994
2:58163030:A:G	W274R	0.994
2:58163030:A:T	W274R	0.994
2:58161533:A:G	C337R	0.993
2:58161622:C:T	C307Y	0.993
2:58161542:G:C	H334D	0.992
2:58160175:A:G	L342P	0.991
2:58161556:C:G	C329S	0.991
2:58161557:A:T	C329S	0.991
2:58161612:A:C	C310W	0.991
2:58161622:C:G	C307S	0.991
2:58161623:A:T	C307S	0.991
2:58165739:G:T	R226S	0.991
2:58160116:A:G	C362R	0.990
2:58160124:C:G	C359S	0.990
2:58160125:A:T	C359S	0.990
2:58160179:A:G	W341R	0.990
2:58160179:A:T	W341R	0.990
2:58161557:A:G	C329R	0.990
2:58161572:A:G	C324R	0.990
2:58160114:A:C	C362W	0.989
2:58161531:G:C	C337W	0.989
2:58161543:G:C	F333L	0.989
2:58161543:G:T	F333L	0.989
2:58161545:A:G	F333L	0.989
2:58161613:C:G	C310S	0.989

dbSNP variants (sampled 300 via entrez): RS1000015170 (2:58227736 T>G), RS1000032267 (2:58196537 GAATT>G), RS1000088436 (2:58230863 T>G), RS1000091815 (2:58231622 G>A), RS1000108992 (2:58189519 TGGA>T), RS1000109407 (2:58222585 G>A), RS1000155900 (2:58226572 T>C), RS1000159532 (2:58193798 G>A), RS1000171041 (2:58225718 A>C,G), RS1000324446 (2:58220524 T>C), RS1000379172 (2:58164710 A>G), RS1000389080 (2:58237412 T>A,C), RS1000396871 (2:58182825 C>T), RS1000420667 (2:58237436 A>G), RS1000446826 (2:58189464 G>A)

Disease associations

OMIM: gene MIM:608111 | disease phenotypes: MIM:614083, MIM:227650, MIM:192350, MIM:314390

GenCC curated gene-disease

Disease	Classification	Inheritance
Fanconi anemia complementation group L	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 L	Definitive	AR

Mondo (6): Fanconi anemia complementation group L (MONDO:0013566), Fanconi anemia (MONDO:0019391), Fanconi anemia complementation group A (MONDO:0009215), VACTERL/vater association (MONDO:0008642), VACTERL association, X-linked, with or without hydrocephalus (MONDO:0010752), premature menopause (MONDO:0001119)

Orphanet (3): Fanconi anemia (Orphanet:84), VACTERL/VATER association (Orphanet:887), VACTERL with hydrocephalus (Orphanet:3412)

HPO phenotypes

133 total (30 of 133 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:0000079	Abnormality of the urinary system
HP:0000083	Renal insufficiency
HP:0000089	Renal hypoplasia
HP:0000122	Unilateral renal agenesis
HP:0000130	Abnormality of the uterus
HP:0000135	Hypogonadism
HP:0000151	Aplasia of the uterus
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
HP:0000369	Low-set ears
HP:0000377	Abnormal pinna morphology
HP:0000431	Wide nasal bridge

GWAS associations

46 associations (top):

Study	Trait	p-value
GCST000830_25	Body mass index	2.000000e-12
GCST001953_14	Obesity	1.000000e-10
GCST001953_35	Obesity	6.000000e-09
GCST001953_60	Obesity	2.000000e-09
GCST002539_36	Schizophrenia	1.000000e-11
GCST002547_5	Epilepsy	1.000000e-08
GCST003764_6	Hirschsprung disease	3.000000e-08
GCST003809_1	Response to selective serotonin reuptake inhibitors and depression	2.000000e-06
GCST004064_34	Waist-hip ratio	7.000000e-07
GCST004064_74	Waist-hip ratio	4.000000e-09
GCST004065_85	Waist circumference	1.000000e-09
GCST004065_95	Waist circumference	4.000000e-08
GCST004521_86	Autism spectrum disorder or schizophrenia	1.000000e-12
GCST004521_96	Autism spectrum disorder or schizophrenia	1.000000e-10
GCST005023_41	Initial pursuit acceleration	9.000000e-07
GCST006803_28	Schizophrenia	2.000000e-12
GCST006941_55	Irritable mood	3.000000e-08
GCST006943_27	Feeling miserable	9.000000e-10
GCST007327_82	Smoking status (ever vs never smokers)	5.000000e-10
GCST007343_1	Epilepsy	8.000000e-09
GCST007345_1	Childhood absence epilepsy	5.000000e-10
GCST007353_2	Generalized epilepsy	1.000000e-11
GCST007576_264	Chronotype	1.000000e-09
GCST007847_117	Type 2 diabetes	2.000000e-08
GCST008529_35	Tea consumption	9.000000e-06
GCST008758_57	Pre-treatment viral load in HIV-1 infection	4.000000e-16
GCST009107_16	Body mass index variance	1.000000e-09
GCST009121_7	Body mass index	4.000000e-17
GCST010136_46	Fruit consumption	5.000000e-10
GCST010142_25	Fish- and plant-related diet	3.000000e-09

EFO canonical traits (19, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0005658	response to selective serotonin reuptake inhibitor
EFO:0004343	waist-hip ratio
EFO:0008434	initial pursuit acceleration
EFO:0009594	irritability measurement
EFO:0009598	feeling miserable measurement
EFO:0004318	smoking behavior
EFO:0008328	chronotype measurement
EFO:0010091	tea consumption measurement
EFO:0010125	viral load
EFO:0008111	diet measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004530	triglyceride measurement
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness
EFO:0009819	comparative body size at age 10, self-reported
EFO:0007828	daytime rest measurement
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0009749	age at first sexual intercourse measurement

MeSH disease descriptors (2)

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
D008594	Menopause, Premature	C12.050.351.500.056.630.250; C12.100.250.056.630.250; G08.686.157.500.500; G08.686.841.249.500.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases expression	4
Particulate Matter	decreases expression, increases abundance, affects cotreatment, increases expression	3
bisphenol A	affects expression, decreases expression	2
Doxorubicin	decreases expression, affects response to substance	2
Cyclosporine	decreases expression	2
GSK-J4	decreases expression	1
dicrotophos	decreases expression	1
urushiol	increases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
beta-lapachone	decreases expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
cobaltous chloride	decreases expression	1
nickel chloride	decreases expression	1
manganese chloride	increases abundance, affects cotreatment, decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	increases expression, affects cotreatment	1
resorcinol	increases expression	1
beta-glycerophosphoric acid	affects cotreatment, decreases expression	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
isobutyl alcohol	affects cotreatment, decreases expression, increases abundance	1
beta-methylcholine	affects expression	1
CGP 52608	affects binding, increases reaction	1
CPG-oligonucleotide	decreases expression	1
4(2’-aminoethyl)amino-1,8-dimethylimidazo(1,2-a)quinoxaline	decreases expression	1
abrine	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Troglitazone	decreases expression	1
Leflunomide	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SN10	HAP1 FANCL (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00417066	PHASE4	COMPLETED	Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders
NCT00732693	PHASE4	COMPLETED	Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure
NCT00837616	PHASE4	COMPLETED	Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01853501	PHASE4	UNKNOWN	Effects of ADSC Therapy in Women With POF
NCT02783937	PHASE4	COMPLETED	Filgrastim for Premature Ovarian Insufficiency
NCT03535480	PHASE4	UNKNOWN	Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure
NCT06519786	PHASE3	UNKNOWN	Safety and Efficacy of Metformin for Treatment of Cytopenia in Children and Adolescents With Fanconi Anemia
NCT00140998	PHASE3	COMPLETED	Estrogen Treatment (Oral vs. Patches) in Turner Syndrome
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
NCT04069533	PHASE2	ACTIVE_NOT_RECRUITING	Lentiviral-mediated Gene Therapy for Pediatric Patients With Fanconi Anemia Subtype A
NCT04248439	PHASE2	ACTIVE_NOT_RECRUITING	Gene Therapy for Fanconi Anemia, Complementation Group A
NCT00001951	PHASE2	COMPLETED	Hormone Replacement in Young Women With Premature Ovarian Failure
NCT00370019	PHASE2	WITHDRAWN	Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure
NCT00429494	PHASE2	COMPLETED	GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients
NCT03816852	PHASE2	SUSPENDED	The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency
NCT04536467	PHASE2	UNKNOWN	Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients
NCT06117982	PHASE2	COMPLETED	The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency
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