FANCM

Chr 14q21.2

FA complementation group M

Aliases:: FAAP250
MANE:: ENST00000267430.10

OMIM: 609644 ↗NCBI: 57697 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

FANCM · Q8IYD8

v62025-08-01

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

Mean pLDDT

51.7/ 100

Low

2,048 residues

Confidence breakdown

Very high(≥ 90)13%
Confident(70–90)23%
Low(50–70)4%
Very low(< 50)60%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Primary ovarian insufficiency
BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours cancer susceptibility
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Haematological malignancies cancer susceptibility
BIALLELIC, autosomal or pseudoautosomal
Haematological malignancies for rare disease
BIALLELIC, autosomal or pseudoautosomal
Head and neck cancer pertinent cancer susceptibility
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

Fanconi anemia
0.75
spermatogenic failure 28
0.72
Non-acquired premature ovarian failure
0.68
Inherited cancer-predisposing syndrome
0.50
hereditary neoplastic syndrome
0.50
hereditary breast carcinoma
0.46
Hereditary breast cancer
0.46
male infertility with azoospermia or oligozoospermia due to single gene mutation
0.46
FANCM Fanconi-like genomic instability disorder
0.45
Bone marrow hypocellularity
0.44

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

Protein function (UniProt)

Fanconi anemia group M protein

DNA-dependent ATPase component of the Fanconi anemia (FA) core complex (PubMed:16116422). Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage (PubMed:16116422, PubMed:19423727, PubMed:20347428, PubMed:20347429, PubMed:29231814). In complex with CENPS and CENPX, binds double-stranded DNA (dsDNA), fork-structured DNA (fsDNA) and Holliday junction substrates (PubMed:20347428, PubMed:20347429). Its ATP-dependent DNA branch migration activity can process branched DNA structures such as a movable replication fork. This activity is strongly stimulated in the presence of CENPS and CENPX (PubMed:20347429). In complex with FAAP24, efficiently binds to single-strand DNA (ssDNA), splayed-arm DNA, and 3'-flap substrates (PubMed:17289582). In vitro, on its own, strongly binds ssDNA oligomers and weakly fsDNA, but does not bind to dsDNA (PubMed:16116434)