FANCL

Chr 2p16.1

FA complementation group L

Aliases:: FLJ10335, FAAP43, Pog
MANE:: ENST00000233741.9

OMIM: 608111 ↗NCBI: 55120 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

FANCL · Q9NW38

v62025-08-01

Predicted Aligned Error matrix for FANCL — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.3/ 100

Very high

375 residues

Confidence breakdown

Very high(≥ 90)76%
Confident(70–90)20%
Low(50–70)4%
Very low(< 50)1%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult solid tumours cancer susceptibility
BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours
BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours cancer susceptibility
BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome
BIALLELIC, autosomal or pseudoautosomal
COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Cytopenias and congenital anaemias
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

Fanconi anemia
0.82
Fanconi anemia complementation group L
0.80
acute myeloid leukemia
0.46
myelodysplastic syndrome
0.46
Bone marrow hypocellularity
0.46
hereditary disease
0.45
Fanconi anemia complementation group A
0.45
hypertensive disorder
0.38
Abnormality of the skeletal system
0.38
head and neck cancer
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

E3 ubiquitin-protein ligase FANCL

Ubiquitin ligase protein that mediates monoubiquitination of FANCD2 in the presence of UBE2T, a key step in the DNA damage pathway (PubMed:12973351, PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:24389026). Also mediates monoubiquitination of FANCI (PubMed:19589784). 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