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 instab... See more...

Aliases for FANCM Gene

Aliases for FANCM Gene

  • FA Complementation Group M 2 3 5
  • KIAA1596 2 3 4
  • FAAP250 2 3 4
  • Fanconi Anemia-Associated Polypeptide Of 250 KDa 3 4
  • Fanconi Anemia Complementation Group M 2 3
  • ATP-Dependent RNA Helicase FANCM 3 4
  • Fanconi Anemia Group M Protein 3 4
  • Protein Hef Ortholog 3 4
  • Protein FACM 4
  • EC 3.6.4.13 4
  • EC 3.6.1 50
  • SPGF28 3
  • POF15 3
  • FANCM 5

External Ids for FANCM Gene

Previous HGNC Symbols for FANCM Gene

  • KIAA1596

Previous GeneCards Identifiers for FANCM Gene

  • GC14P044675
  • GC14P045605
  • GC14P025716

Summaries for FANCM Gene

Entrez Gene Summary for FANCM Gene

  • 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]

GeneCards Summary for FANCM Gene

FANCM (FA Complementation Group M) is a Protein Coding gene. Diseases associated with FANCM include Premature Ovarian Failure 15 and Spermatogenic Failure 28. Among its related pathways are DNA Double-Strand Break Repair and Fanconi anemia pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and hydrolase activity.

UniProtKB/Swiss-Prot Summary for FANCM Gene

  • 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).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FANCM Gene

Genomics for FANCM Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FANCM Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FANCM on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FANCM

Top Transcription factor binding sites by QIAGEN in the FANCM gene promoter:
  • AML1a
  • Cart-1
  • FOXC1
  • Lmo2
  • MyoD
  • SRF
  • SRF (504 AA)
  • USF-1
  • USF1

Genomic Locations for FANCM Gene

Latest Assembly
chr14:45,135,930-45,200,890
(GRCh38/hg38)
Size:
64,961 bases
Orientation:
Plus strand

Previous Assembly
chr14:45,605,133-45,670,093
(GRCh37/hg19 by Entrez Gene)
Size:
64,961 bases
Orientation:
Plus strand

chr14:45,605,143-45,670,093
(GRCh37/hg19 by Ensembl)
Size:
64,951 bases
Orientation:
Plus strand

Genomic View for FANCM Gene

Genes around FANCM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FANCM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FANCM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FANCM Gene

Proteins for FANCM Gene

  • Protein details for FANCM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYD8-FANCM_HUMAN
    Recommended name:
    Fanconi anemia group M protein
    Protein Accession:
    Q8IYD8
    Secondary Accessions:
    • B2RTQ9
    • Q3YFH9
    • Q8N9X6
    • Q9HCH6

    Protein attributes for FANCM Gene

    Size:
    2048 amino acids
    Molecular mass:
    232191 Da
    Quaternary structure:
    • Component of the Fanconi anemia (FA) core complex, which consists of CENPS, CENPX, FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL, FANCM, FAAP24 and FAAP100 (PubMed:16116422, PubMed:16116434, PubMed:17289582). The FA core complex associates with Bloom syndrome (BLM) complex, which consists of at least BLM, DNA topoisomerase 3-alpha/TOP3A, RMI1/BLAP75, RPA1/RPA70 and RPA2/RPA32. This supercomplex between FA and BLM complexes has been called BRAFT (PubMed:20347428). Forms a discrete complex with CENPS and CENPX, called FANCM-MHF; this interaction stimulates DNA binding and replication fork remodeling by FANCM and stabilizes the binding partners (PubMed:20347428, PubMed:20347429). Forms a heterodimer with FAAP24; this interaction increases FANCM single-stranded DNA-binding activity (PubMed:17289582, PubMed:20347428).
    SequenceCaution:
    • Sequence=BAB13422.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FANCM Gene

    Alternative splice isoforms for FANCM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FANCM Gene

Selected DME Specific Peptides for FANCM Gene

Q8IYD8:
  • QRMGRTGRKR
  • IQILESF
  • APTKPLV

Post-translational modifications for FANCM Gene

  • Phosphorylated; hyperphosphorylated in response to genotoxic stress.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Abcam antibodies for FANCM
  • Boster Bio Antibodies for FANCM

Domains & Families for FANCM Gene

Gene Families for FANCM Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for FANCM Gene

Suggested Antigen Peptide Sequences for FANCM Gene

GenScript: Design optimal peptide antigens:
  • Protein Hef ortholog (FANCM_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IYD8

UniProtKB/Swiss-Prot:

FANCM_HUMAN :
  • Belongs to the DEAD box helicase family. DEAH subfamily. FANCM sub-subfamily.
Family:
  • Belongs to the DEAD box helicase family. DEAH subfamily. FANCM sub-subfamily.
genes like me logo Genes that share domains with FANCM: view

Function for FANCM Gene

Molecular function for FANCM Gene

UniProtKB/Swiss-Prot Function:
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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13; Evidence={ECO:0000269|PubMed:16116422, ECO:0000269|PubMed:17289582, ECO:0000269|PubMed:19423727, ECO:0000269|PubMed:20347429};.

Enzyme Numbers (IUBMB) for FANCM Gene

Phenotypes From GWAS Catalog for FANCM Gene

Gene Ontology (GO) - Molecular Function for FANCM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000400 four-way junction DNA binding IBA 21873635
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IDA 20347429
genes like me logo Genes that share ontologies with FANCM: view
genes like me logo Genes that share phenotypes with FANCM: view

Human Phenotype Ontology for FANCM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FANCM Gene

MGI Knock Outs for FANCM:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FANCM

No data available for Transcription Factor Targets and HOMER Transcription for FANCM Gene

Localization for FANCM Gene

Subcellular locations from UniProtKB/Swiss-Prot for FANCM Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FANCM gene
Compartment Confidence
nucleus 5
mitochondrion 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FANCM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0043240 Fanconi anaemia nuclear complex IDA 20347428
GO:0071821 FANCM-MHF complex IDA 20347428
genes like me logo Genes that share ontologies with FANCM: view

Pathways & Interactions for FANCM Gene

PathCards logo

SuperPathways for FANCM Gene

genes like me logo Genes that share pathways with FANCM: view

Pathways by source for FANCM Gene

2 Reactome pathways for FANCM Gene
1 KEGG pathway for FANCM Gene

SIGNOR curated interactions for FANCM Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for FANCM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000712 resolution of meiotic recombination intermediates IMP 20347428
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0031297 replication fork processing IMP 20347428
GO:0032508 DNA duplex unwinding IEA --
genes like me logo Genes that share ontologies with FANCM: view

Drugs & Compounds for FANCM Gene

(3) Drugs for FANCM Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(1) Additional Compounds for FANCM Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
genes like me logo Genes that share compounds with FANCM: view

Transcripts for FANCM Gene

mRNA/cDNA for FANCM Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FANCM

Alternative Splicing Database (ASD) splice patterns (SP) for FANCM Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a ·
SP1: - -
SP2: - - -
SP3:
SP4:
SP5:

ExUns: 22b ^ 23a · 23b ^ 24a · 24b · 24c
SP1:
SP2:
SP3:
SP4:
SP5: -

Relevant External Links for FANCM Gene

GeneLoc Exon Structure for
FANCM

Expression for FANCM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FANCM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Protein differential expression in normal tissues from HIPED for FANCM Gene

This gene is overexpressed in Plasma (30.6), Liver, secretome (20.6), Lung (9.9), and Platelet (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FANCM Gene



Protein tissue co-expression partners for FANCM Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FANCM

SOURCE GeneReport for Unigene cluster for FANCM Gene:

Hs.509229

mRNA Expression by UniProt/SwissProt for FANCM Gene:

Q8IYD8-FANCM_HUMAN
Tissue specificity: Expressed in germ cells of fetal and adult ovaries. In fetal ovaries, it is present in oogonia but expression is stronger in pachytene stage oocytes. Expressed in oocytes arrested at the diplotene stage of prophase I during the last trimester of pregnancy and in adults (PubMed:29231814). Expressed in the testis (PubMed:30075111).

Evidence on tissue expression from TISSUES for FANCM Gene

  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FANCM Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • breast
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • uterus
  • vagina
  • vulva
Limb:
  • arm
  • digit
  • finger
  • forearm
  • hand
  • radius
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with FANCM: view

Primer products for research

No data available for mRNA differential expression in normal tissues for FANCM Gene

Orthologs for FANCM Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for FANCM Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FANCM 29 30
  • 99.27 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FANCM 29 30
  • 87.38 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FANCM 29 30
  • 84.38 (n)
OneToMany
-- 30
  • 82 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Fancm 29 16 30
  • 75.53 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FANCM 30
  • 55 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FANCM 30
  • 53 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FANCM 29 30
  • 57.73 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FANCM 30
  • 39 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fancm 29
  • 58.32 (n)
Str.18400 29
Zebrafish
(Danio rerio)
Actinopterygii FANCM (3 of 3) 30
  • 64 (a)
OneToMany
FANCM (2 of 3) 30
  • 52 (a)
OneToMany
fancm 30
  • 34 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG7922 30
  • 25 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MPH1 30 32
  • 25 (a)
OneToOne
Species where no ortholog for FANCM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for FANCM Gene

ENSEMBL:
Gene Tree for FANCM (if available)
TreeFam:
Gene Tree for FANCM (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FANCM: view image
Alliance of Genome Resources:
Additional Orthologs for FANCM

Paralogs for FANCM Gene

No data available for Paralogs for FANCM Gene

Variants for FANCM Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FANCM Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
1000098 Uncertain Significance: Fanconi anemia 45,176,553(+) A/C
NM_020937.4(FANCM):c.3799A>C (p.Lys1267Gln)
MISSENSE
1000121 Uncertain Significance: Fanconi anemia 45,189,313(+) C/T
NM_020937.4(FANCM):c.5291C>T (p.Thr1764Ile)
MISSENSE
1000929 Uncertain Significance: Fanconi anemia 45,136,303(+) T/C
NM_020937.4(FANCM):c.272T>C (p.Val91Ala)
MISSENSE
1001337 Uncertain Significance: Fanconi anemia 45,176,811(+) A/G
NM_020937.4(FANCM):c.4057A>G (p.Ile1353Val)
MISSENSE
1001644 Uncertain Significance: Fanconi anemia 45,183,843(+) G/A
NM_020937.4(FANCM):c.4456G>A (p.Val1486Ile)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FANCM Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FANCM Gene

Variant ID Type Subtype PubMed ID
esv23137 CNV loss 19812545
esv2676798 CNV deletion 23128226
esv3634343 CNV loss 21293372
nsv1045297 CNV loss 25217958
nsv832785 CNV loss 17160897

Variation tolerance for FANCM Gene

Residual Variation Intolerance Score: 96.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.68; 97.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FANCM Gene

Human Gene Mutation Database (HGMD)
FANCM
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FANCM
Leiden Open Variation Database (LOVD)
FANCM

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FANCM Gene

Disorders for FANCM Gene

MalaCards: The human disease database

(29) MalaCards diseases for FANCM Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search FANCM in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FANCM_HUMAN
  • Spermatogenic failure 28 (SPGF28) [MIM:618086]: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in oligoasthenospermia or non-obstructive azoospermia. {ECO:0000269 PubMed:29895858, ECO:0000269 PubMed:30075111}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Premature ovarian failure 15 (POF15) [MIM:618096]: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000269 PubMed:29231814}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for FANCM

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FANCM: view

No data available for Genatlas for FANCM Gene

Publications for FANCM Gene

  1. Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia. (PMID: 30075111) Kasak L … Laan M (American journal of human genetics 2018) 3 4 72
  2. A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency. (PMID: 29231814) Fouquet B … Misrahi M (eLife 2017) 3 4 72
  3. A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. (PMID: 16116422) Meetei AR … Wang W (Nature genetics 2005) 2 3 4
  4. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4
  5. A homozygous FANCM frameshift pathogenic variant causes male infertility. (PMID: 29895858) Yin H … Shi Q (Genetics in medicine : official journal of the American College of Medical Genetics 2019) 3 4

Products for FANCM Gene

Sources for FANCM Gene