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Aliases for FANCM Gene

Aliases for FANCM Gene

  • Fanconi Anemia, Complementation Group M 2 3
  • KIAA1596 2 3 4 6
  • Fanconi Anemia-Associated Polypeptide Of 250 KDa 3 4
  • ATP-Dependent RNA Helicase FANCM 3 4
  • Protein Hef Ortholog 3 4
  • FAAP250 3 4
  • Fanconi Anemia Group M Protein 3
  • Protein FACM 4
  • EC 3.6.4.13 4
  • EC 3.6.1 63

External Ids for FANCM Gene

Previous Symbols for FANCM Gene

  • KIAA1596

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. [provided by RefSeq, Jul 2008]

GeneCards Summary for FANCM Gene

FANCM (Fanconi Anemia, Complementation Group M) is a Protein Coding gene. Diseases associated with FANCM include fanconi anemia, complementation group m and fancm-related fanconi anemia. Among its related pathways are DNA Repair and Fanconi anemia pathway (KEGG). GO annotations related to this gene include chromatin binding and nuclease activity.

UniProtKB/Swiss-Prot for FANCM Gene

  • ATPase required for FANCD2 ubiquitination, a key reaction in DNA repair. Binds to ssDNA but not to dsDNA. Recruited to forks stalled by DNA interstrand cross-links, and required for cellular resistance to such lesions.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FANCM Gene

Genomics for FANCM Gene

Genomic Location for FANCM Gene

Start:
45,135,933 bp from pter
End:
45,200,890 bp from pter
Size:
64,958 bases
Orientation:
Plus strand

Genomic View for FANCM Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FANCM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FANCM Gene

Regulatory Elements 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:
    • Belongs to the multisubunit FA complex composed of APITD1, FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9, FANCM, FAAP24 and STRA13/CENPX. The complex is not found in FA patients. Interacts with APITD1/CENPS, FAAP24 and EME1.
    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

Proteomics data for FANCM Gene at MOPED

Selected DME Specific Peptides for FANCM Gene

Post-translational modifications for FANCM Gene

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

Other Protein References for FANCM Gene

Domains for FANCM Gene

Gene Families for FANCM Gene

HGNC:
  • FANC :Fanconi anemia, complementation groups

Suggested Antigen Peptide Sequences for FANCM Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IYD8

UniProtKB/Swiss-Prot:

FANCM_HUMAN
Domain:
  • Contains 1 helicase ATP-binding domain.:
    • Q8IYD8
  • Contains 1 helicase C-terminal domain.:
    • Q8IYD8
Family:
  • Belongs to the DEAD box helicase family. DEAH subfamily. FANCM sub-subfamily.:
    • Q8IYD8
genes like me logo Genes that share domains with FANCM: view

Function for FANCM Gene

Molecular function for FANCM Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + H(2)O = ADP + phosphate
UniProtKB/Swiss-Prot Function: ATPase required for FANCD2 ubiquitination, a key reaction in DNA repair. Binds to ssDNA but not to dsDNA. Recruited to forks stalled by DNA interstrand cross-links, and required for cellular resistance to such lesions.

Enzyme Numbers (IUBMB) for FANCM Gene

Gene Ontology (GO) - Molecular Function for FANCM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IDA 20347429
GO:0004386 helicase activity IEA --
GO:0004518 nuclease activity IEA --
genes like me logo Genes that share ontologies with FANCM: view
genes like me logo Genes that share phenotypes with FANCM: view

Animal Models for FANCM Gene

MGI Knock Outs for FANCM:

miRNA for FANCM Gene

miRTarBase miRNAs that target FANCM

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

Localization for FANCM Gene

Subcellular locations from UniProtKB/Swiss-Prot for FANCM Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FANCM Gene COMPARTMENTS Subcellular localization image for FANCM gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for FANCM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm 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 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

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:0006259 DNA metabolic process --
GO:0006281 DNA repair TAS --
GO:0031297 replication fork processing IMP 20347428
GO:0090305 nucleic acid phosphodiester bond hydrolysis IEA --
genes like me logo Genes that share ontologies with FANCM: view

Transcripts for FANCM Gene

Unigene Clusters for FANCM Gene

Fanconi anemia, complementation group M:
Representative Sequences:

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
ECgene alternative splicing isoforms for
FANCM

Expression for FANCM Gene

mRNA expression in normal human tissues for FANCM Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for FANCM Gene

SOURCE GeneReport for Unigene cluster for FANCM Gene Hs.509229

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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 35
  • 99.27 (n)
  • 98.78 (a)
FANCM 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 82 (a)
OneToMany
FANCM 35
  • 84.38 (n)
  • 76.59 (a)
FANCM 36
  • 80 (a)
OneToMany
dog
(Canis familiaris)
Mammalia FANCM 35
  • 87.38 (n)
  • 79.89 (a)
FANCM 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fancm 35
  • 75.53 (n)
  • 66.92 (a)
Fancm 16
Fancm 36
  • 65 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FANCM 36
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FANCM 36
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves FANCM 35
  • 57.73 (n)
  • 50.91 (a)
FANCM 36
  • 44 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FANCM 36
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fancm 35
  • 58.32 (n)
  • 52.19 (a)
Str.18400 35
zebrafish
(Danio rerio)
Actinopterygii fancm 36
  • 34 (a)
OneToMany
FANCM (2 of 3) 36
  • 52 (a)
OneToMany
FANCM (3 of 3) 36
  • 64 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7922 36
  • 25 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MPH1 36
  • 25 (a)
OneToOne
MPH1 38
Species with no ortholog for FANCM:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for FANCM Gene

No data available for Paralogs for FANCM Gene

Variants for FANCM Gene

Sequence variations from dbSNP and Humsavar for FANCM Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs170542 -- 45,140,914(-) CTACA(A/G)ATGTG intron-variant
rs179105 -- 45,147,276(+) CCAAG(A/C)CCTCA intron-variant
rs226976 -- 45,159,572(-) GAAGA(A/G)GAAGT intron-variant
rs226977 -- 45,144,309(+) tcccc(C/T)ccacc intron-variant
rs226980 -- 45,201,185(-) gactt(C/G)gtgat downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
nsv901841 CNV Loss 21882294
nsv901842 CNV Loss 21882294
nsv901843 CNV Gain 21882294
nsv832785 CNV Loss 17160897
nsv901844 CNV Loss 21882294
esv2676798 CNV Deletion 23128226
esv23137 CNV Loss 19812545
nsv901845 CNV Loss 21882294

Relevant External Links for FANCM Gene

HapMap Linkage Disequilibrium report
FANCM
Human Gene Mutation Database (HGMD)
FANCM
Locus Specific Mutation Databases (LSDB)
FANCM

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

Disorders for FANCM Gene

(1) OMIM Diseases for FANCM Gene (609644)

UniProtKB/Swiss-Prot

FANCM_HUMAN
  • Fanconi anemia complementation group M (FANCM) [MIM:614087]: 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. {ECO:0000269 PubMed:16116422}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for FANCM Gene

(2) Novoseek inferred disease relationships for FANCM Gene

Disease -log(P) Hits PubMed IDs
fanconis anemia 91.7 4
cancer 25.2 1

Relevant External Links for FANCM

GeneTests
FANCM
GeneReviews
FANCM
Genetic Association Database (GAD)
FANCM
Human Genome Epidemiology (HuGE) Navigator
FANCM
genes like me logo Genes that share disorders with FANCM: view

Publications for FANCM Gene

  1. A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. (PMID: 16116422) Meetei A.R. … Wang W. (Nat. Genet. 2005) 2 3 4
  2. 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 Res. 2000) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia. (PMID: 20064461) Deans A.J. … West S.C. (Mol. Cell 2009) 3 23

Products for FANCM Gene

Sources for FANCM Gene

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