FANCM Gene

HGNC Family	Fanconi anemia, complementation groups (FANC)
Name	Fanconi anemia, complementation group M
Description	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 M. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n FANCM is a multifunctional DNA repair factor central to the Fanconi anemia (FA) network that safeguards genome integrity by orchestrating a variety of repair and checkpoint processes. Its unique ability to bind DNA and drive ATP‐dependent branch migration allows FANCM to recognize and remodel aberrant DNA structures—including Holliday junctions and stalled replication forks."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": " In addition, through interactions with binding partners such as FAAP24, as well as with other core FA proteins, FANCM functions as a molecular anchor that recruits and stabilizes the FA core complex on chromatin to facilitate FANCD2/I monoubiquitination and coordinate the repair of DNA interstrand crosslinks and other replication-associated lesions."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Moreover, its ATPase activity modulates replication fork progression, promoting fork restart while suppressing deleterious recombination events and thereby contributing to overall replication stability."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " FANCM also plays a key role in ATR/Chk1-dependent checkpoint signaling, participating in the protection of stalled forks and preventing premature degradation of replication machinery."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}, {"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " The importance of these functions is underscored by the observation that loss-of-function mutations in FANCM are linked to human pathologies such as increased susceptibility to breast cancer"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": "and infertility"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": ", while animal models deficient in FANCM exhibit genomic instability and tumor predisposition."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": " Recent studies further implicate FANCM in the resolution of replication stress at alternative lengthening of telomeres (ALT) by collaborating with proteins such as BRCA1 and BLM to promote homologous recombination-mediated repair at telomeric regions."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "12"}]}, {"type": "t", "text": " Together, these multifaceted activities highlight FANCM’s essential role in maintaining genomic stability through both FA core complex–dependent and –independent mechanisms.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Alberto Ciccia, Chen Ling, Rachel Coulthard, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molcel.2007.01.003"}], "href": "https://doi.org/10.1016/j.molcel.2007.01.003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17289582"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17289582"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Yutong Xue, Yongjiang Li, Rong Guo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "FANCM of the Fanconi anemia core complex is required for both monoubiquitination and DNA repair."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddn054"}], "href": "https://doi.org/10.1093/hmg/ddn054"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18285517"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18285517"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Kerstin Gari, Chantal Décaillet, Alicja Z Stasiak, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The Fanconi anemia protein FANCM can promote branch migration of Holliday junctions and replication forks."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molcel.2007.11.032"}], "href": "https://doi.org/10.1016/j.molcel.2007.11.032"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18206976"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18206976"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Jung Min Kim, Younghoon Kee, Allan Gurtan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cell cycle-dependent chromatin loading of the Fanconi anemia core complex by FANCM/FAAP24."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood-2007-09-113092"}], "href": "https://doi.org/10.1182/blood-2007-09-113092"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18174376"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18174376"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Andrew J Deans, Stephen C West "}, {"type": "b", "children": [{"type": "t", "text": "FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molcel.2009.12.006"}], "href": "https://doi.org/10.1016/j.molcel.2009.12.006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20064461"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20064461"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Sarah Luke-Glaser, Brian Luke, Simona Grossi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "FANCM regulates DNA chain elongation and is stabilized by S-phase checkpoint signalling."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO J (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/emboj.2009.371"}], "href": "https://doi.org/10.1038/emboj.2009.371"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20010692"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20010692"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Spencer J Collis, Alberto Ciccia, Andrew J Deans, et al. "}, {"type": "b", "children": [{"type": "t", "text": "FANCM and FAAP24 function in ATR-mediated checkpoint signaling independently of the Fanconi anemia core complex."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molcel.2008.10.014"}], "href": "https://doi.org/10.1016/j.molcel.2008.10.014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18995830"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18995830"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Paolo Peterlongo, Irene Catucci, Mara Colombo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddv251"}], "href": "https://doi.org/10.1093/hmg/ddv251"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26130695"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26130695"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Laura Kasak, Margus Punab, Liina Nagirnaja, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2018.07.005"}], "href": "https://doi.org/10.1016/j.ajhg.2018.07.005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30075111"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30075111"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Sietske T Bakker, Henri J van de Vrugt, Martin A Rooimans, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Fancm-deficient mice reveal unique features of Fanconi anemia complementation group M."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddp297"}], "href": "https://doi.org/10.1093/hmg/ddp297"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19561169"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19561169"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Thiyam Ramsing Singh, Sietske T Bakker, Sheba Agarwal, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood-2009-02-207811"}], "href": "https://doi.org/10.1182/blood-2009-02-207811"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19423727"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19423727"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Xiaolei Pan, William C Drosopoulos, Louisa Sethi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "FANCM, BRCA1, and BLM cooperatively resolve the replication stress at the ALT telomeres."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1708065114"}], "href": "https://doi.org/10.1073/pnas.1708065114"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28673972"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28673972"}]}]}]}
Synonyms	SPGF28, FAAP250, POF15, KIAA1596
Proteins	FANCM_HUMAN
NCBI Gene ID	57697
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

FANCM has 6,926 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 119 datasets.

Click the + buttons to view associations for FANCM from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

FANCM Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of FANCM gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of FANCM gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of FANCM gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of FANCM gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of FANCM gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of FANCM gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of FANCM gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of FANCM gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of FANCM gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of FANCM gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with FANCM gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of FANCM gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of FANCM gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of FANCM gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with FANCM gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with FANCM gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of FANCM gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing FANCM protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing FANCM protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing FANCM protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with FANCM protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with FANCM protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing FANCM protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of FANCM gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with FANCM gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with FANCM gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of FANCM protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by FANCM gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving FANCM gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving FANCM gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with FANCM gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with FANCM gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with FANCM gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with FANCM gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at FANCM gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of FANCM gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of FANCM gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing FANCM from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with FANCM gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with FANCM gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.