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Aliases for FANCM Gene

Aliases for FANCM Gene

  • Fanconi Anemia Complementation Group M 2 3 5
  • KIAA1596 2 3 4
  • 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, Complementation Group M 3
  • Protein FACM 4
  • EC 3.6.4.13 4
  • EC 3.6.1 63

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 (Fanconi Anemia Complementation Group M) is a Protein Coding gene. Diseases associated with FANCM include Fanconi Anemia, Complementation Group A and Fancm-Related Fanconi Anemia. Among its related pathways are Fanconi anemia pathway and DNA Double-Strand Break Repair. GO annotations related to this gene include nucleic acid binding and hydrolase 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

Regulatory Elements for FANCM Gene

Enhancers for FANCM Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FANCM on UCSC Golden Path with GeneCards custom track

Promoters for FANCM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FANCM on UCSC Golden Path with GeneCards custom track

Genomic Location for FANCM Gene

Chromosome:
14
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

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:
    • 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

Domains & Families for FANCM Gene

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 :
  • Contains 1 helicase ATP-binding domain.
  • Belongs to the DEAD box helicase family. DEAH subfamily. FANCM sub-subfamily.
Domain:
  • Contains 1 helicase ATP-binding domain.
  • Contains 1 helicase C-terminal domain.
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 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 IEA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IDA 20347429
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

Human Phenotype Ontology for FANCM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FANCM Gene

MGI Knock Outs for FANCM:

Animal Model Products

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

No data available for Gene Ontology (GO) - Cellular Components for FANCM Gene

Pathways & Interactions 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:0036297 interstrand cross-link repair TAS --
GO:0090305 nucleic acid phosphodiester bond hydrolysis IEA --
genes like me logo Genes that share ontologies with FANCM: view

Drugs & Compounds for FANCM Gene

(1) Drugs for FANCM Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds 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

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, PaxDb, and MOPED for FANCM Gene



SOURCE GeneReport for Unigene cluster for FANCM Gene Hs.509229

genes like me logo Genes that share expression patterns with FANCM: view

Protein tissue co-expression partners for FANCM Gene

Primer Products

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
cow
(Bos Taurus)
Mammalia FANCM 35
  • 84.38 (n)
  • 76.59 (a)
-- 36
  • 82 (a)
OneToMany
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
chimpanzee
(Pan troglodytes)
Mammalia FANCM 35
  • 99.27 (n)
  • 98.78 (a)
FANCM 36
  • 99 (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
rs10138997 - 45,137,084(+) AGCTT(C/T)CACCA reference, missense
rs1367580 - 45,175,386(+) ATTCT(G/T)TAGAT reference, missense
rs3736772 - 45,196,265(-) CTGCG(C/G/T)AAGTC intron-variant, reference, missense
rs45547534 - 45,137,184(+) GAAAT(A/G)AAGTG reference, missense
rs170542 -- 45,140,914(-) CTACA(A/G)ATGTG intron-variant

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

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)

Relevant External Links for FANCM Gene

Human Gene Mutation Database (HGMD)
FANCM

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

Disorders for FANCM Gene

MalaCards: The human disease database

(4) MalaCards diseases for FANCM Gene - From: GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

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

Relevant External Links for FANCM

Genetic Association Database (GAD)
FANCM
Human Genome Epidemiology (HuGE) Navigator
FANCM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FANCM
genes like me logo Genes that share disorders with FANCM: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FANCM Gene

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 67
  2. 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
  3. FANCM of the Fanconi anemia core complex is required for both monoubiquitination and DNA repair. (PMID: 18285517) Xue Y. … Wang W. (Hum. Mol. Genet. 2008) 3 23
  4. FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway. (PMID: 17396147) Ling C. … Wang W. (EMBO J. 2007) 3 23
  5. Evidence for subcomplexes in the Fanconi anemia pathway. (PMID: 16720839) Medhurst A.L. … de Winter J.P. (Blood 2006) 3 23

Products for FANCM Gene

Sources for FANCM Gene

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