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FANCM Gene

protein-coding   GIFtS: 63
GCID: GC14P045605

Fanconi Anemia, Complementation Group M

(Previous name: KIAA1596)
(Previous symbol: KIAA1596)
  See FANCM-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Fanconi Anemia, Complementation Group M1 2     ATP-Dependent RNA Helicase FANCM2 3
KIAA15961 2 3 5     Fanconi Anemia Group M Protein2
Fanconi Anemia-Associated Polypeptide Of 250 KDa2 3     EC 3.6.4.133
Protein Hef Ortholog2 3     Protein FACM3
FAAP2502 3     EC 3.6.18

External Ids:    HGNC: 231681   Entrez Gene: 576972   Ensembl: ENSG000001877907   OMIM: 6096445   UniProtKB: Q8IYD83   

Export aliases for FANCM gene to outside databases

Previous GC identifers: GC14P044675 GC14P025716


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include chromatin binding and nuclease activity.

UniProtKB/Swiss-Prot: FANCM_HUMAN, Q8IYD8
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FANCM gene promoter:
         SRF   USF1   AML1a   SRF (504 AA)   MyoD   Lmo2   FOXC1   USF-1   Cart-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFANCM promoter sequence
   Search Chromatin IP Primers for FANCM

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FANCM


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q21.2   Ensembl cytogenetic band:  14q21.2   HGNC cytogenetic band: 14q21.3

FANCM Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FANCM gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P045605:  view genomic region     (about GC identifiers)

Start:
45,605,136 bp from pter      End:
45,670,093 bp from pter
Size:
64,958 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FANCM_HUMAN, Q8IYD8 (See protein sequence)
Recommended Name: Fanconi anemia group M protein  
Size: 2048 amino acids; 232191 Da
Subunit: 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
Sequence caution: Sequence=BAB13422.1; Type=Miscellaneous discrepancy; Note=Intron retention;
5 PDB 3D structures from and Proteopedia for FANCM:
4BXO (3D)        4DAY (3D)        4DRB (3D)        4E45 (3D)        4M6W (3D)    
Secondary accessions: Q3YFH9 Q8N9X6 Q9HCH6
Alternative splicing: 2 isoforms:  Q8IYD8-1   Q8IYD8-2   

Explore the universe of human proteins at neXtProt for FANCM: NX_Q8IYD8

Explore proteomics data for FANCM at MOPED

Post-translational modifications: 

  • Phosphorylated; hyperphosphorylated in response to genotoxic stress1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for FANCM (Q8IYD8)
     APTKPLV  IQILESF  QRMGRTGRKR 


    See FANCM Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065988.1  
    ENSEMBL proteins: 
     ENSP00000450596   ENSP00000267430   ENSP00000442493   ENSP00000452033   ENSP00000450632  
     ENSP00000451846   ENSP00000450797  
    Reactome Protein details: Q8IYD8

    FANCM Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals FANCM Protein
    Novus Biologicals FANCM Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FANCM

     
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    LSBio Antibodies in human, mouse, rat for FANCM

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FANC: Fanconi anemia, complementation groups

    Selected InterPro protein domains (see all 8):
     IPR011545 DNA/RNA_helicase_DEAD/DEAH_N
     IPR011335 Restrct_endonuc-II-like
     IPR020819 DNA_repair_nuc_XPF/helicase
     IPR006166 ERCC4_domain
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q8IYD8

    ProtoNet protein and cluster: Q8IYD8

    2 Blocks protein domains:
    IPB002464 ATP-dependent helicase
    IPB006166 ERCC4 domain


    UniProtKB/Swiss-Prot: FANCM_HUMAN, Q8IYD8
    Similarity: Belongs to the DEAD box helicase family. DEAH subfamily
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain


    Find genes that share domains with FANCM           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FANCM_HUMAN, Q8IYD8
    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
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.131

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding IDA--
    GO:0004386helicase activity ----
    GO:0004518nuclease activity IEA--
         
    Find genes that share ontologies with FANCM           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for FANCM:
     Increased gamma-H2AX phosphory 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Fancm):
     cellular  endocrine/exocrine gland  hematopoietic system  mortality/aging  no phenotypic analysis 
     reproductive system  tumorigenesis 

    Find genes that share phenotypes with FANCM           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Fancmtm1.1Htr for FANCM

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FANCM
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FANCM
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FANCM

    miRNA
    Products:
        
    miRTarBase miRNAs that target FANCM:
    hsa-mir-192-5p (MIRT026567), hsa-mir-193b-3p (MIRT016474)

    Block miRNA regulation of human, mouse, rat FANCM using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FANCM (see all 10):
    hsa-miR-3163 hsa-miR-3616-5p hsa-miR-3120-3p hsa-miR-3647-5p hsa-miR-519c-3p hsa-miR-519a hsa-miR-519b-3p hsa-miR-338-5p
    SwitchGear 3'UTR luciferase reporter plasmidFANCM 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for FANCM
    Predesigned siRNA for gene silencing in human, mouse, rat FANCM

    Gene Editing
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    OriGene ORF clones in mouse, rat for FANCM
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FANCM (NM_020937)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FANCM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FANCM

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FANCM


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FANCM_HUMAN, Q8IYD8: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0043240Fanconi anaemia nuclear complex IDA--
    GO:0071821FANCM-MHF complex IDA--

    Find genes that share ontologies with FANCM           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for FANCM About    
    See pathways by source

    SuperPathContained pathways About
    1DNA Repair
    DNA Repair0.45
    2Fanconi Anemia pathway (REACTOME)
    Fanconi Anemia pathway
    3Fanconi anemia pathway (KEGG)
    Fanconi anemia pathway


    Find genes that share SuperPaths with FANCM           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for FANCM
        Fanconi Anemia pathway


    1 Kegg Pathway  (Kegg details for FANCM):
        Fanconi anemia pathway

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FANCM
    Interactions:

        GeneGlobe Interaction Network for FANCM

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for FANCM (Q8IYD82, 3 ENSP000002674304) via UniProtKB, MINT, STRING, and/or I2D (see all 204)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FANCGO152872, 3, ENSP000003679104MINT-4789189 MINT-4789226 I2D: score=1 STRING: ENSP00000367910
    APITD1Q8N2Z92, 3MINT-8434669 MINT-8434303 I2D: score=1 
    FANCLQ9NW382, 3, ENSP000003850214MINT-4789189 MINT-4789279 MINT-4789226 I2D: score=1 STRING: ENSP00000385021
    C17orf70Q0VG062, 3, ENSP000003332834MINT-4789189 MINT-4789279 MINT-4789226 I2D: score=1 STRING: ENSP00000333283
    FANCBQ8NB912, 3, ENSP000003268194MINT-4789189 MINT-4789279 MINT-4789226 I2D: score=1 STRING: ENSP00000326819
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000712resolution of meiotic recombination intermediates IMP--
    GO:0006259DNA metabolic process ----
    GO:0006281DNA repair TAS--
    GO:0031297replication fork processing IMP--

    Find genes that share ontologies with FANCM           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FANCM



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FANCM gene: 
    NM_020937.2  

    Unigene Cluster for FANCM:

    Fanconi anemia, complementation group M
    Hs.509229  [show with all ESTs]
    Unigene Representative Sequence: NM_020937
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000556036(uc001wwc.2) ENST00000267430(uc001wwd.4 uc010anf.3 uc001wwe.4)
    ENST00000542564 ENST00000554030 ENST00000556250(uc010ang.3) ENST00000554809
    ENST00000555013 ENST00000557110 ENST00000555484 ENST00000553551
    miRNA
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    Block miRNA regulation of human, mouse, rat FANCM using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FANCM (see all 10):
    hsa-miR-3163 hsa-miR-3616-5p hsa-miR-3120-3p hsa-miR-3647-5p hsa-miR-519c-3p hsa-miR-519a hsa-miR-519b-3p hsa-miR-338-5p
    SwitchGear 3'UTR luciferase reporter plasmidFANCM 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FANCM
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FANCM (NM_020937)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FANCM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FANCM
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FANCM
      QuantiTect SYBR Green Assays in human, mouse, rat FANCM
      QuantiFast Probe-based Assays in human, mouse, rat FANCM

    Additional mRNA sequence: 

    AB046816.1 AK001672.1 AK093422.1 AL833656.1 BC036056.1 BC140776.1 BC144511.1 DQ140356.1 

    8 DOTS entries:

    DT.100019588  DT.431945  DT.99998272  DT.120757446  DT.75133338  DT.75130572  DT.40125814  DT.40200442 

    Selected AceView cDNA sequences (see all 49):

    AA789146 BE350003 AA829389 BX280532 AA953838 BQ434709 AI745662 AA424588 
    CA976036 AU132940 AI565351 AA424633 AX748116 AA412595 AW517262 AK093422 
    AW170807 BX282356 BF516426 AI673728 AL833656 BC036056 BU102012 CD652398 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for FANCM    About this scheme

    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:              -                     


    ECgene alternative splicing isoforms for FANCM

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FANCM expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATTTTTCCC
    FANCM Expression
    About this image

    FANCM Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FANCM Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.509229
        Custom PCR Arrays for FANCM
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FANCM

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for FANCM gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fancm1 , 5 Fanconi anemia, complementation group M1, 5 75.53(n)1
    66.92(a)1
      12 (27.21 cM)5
    1048061  NM_178912.31  NP_849243.21 
     650756065 
    chicken
    (Gallus gallus)
    Aves FANCM1 Fanconi anemia, complementation group M 57.73(n)
    50.91(a)
      100857997  XM_003641452.2  XP_003641500.2 
    lizard
    (Anolis carolinensis)
    Reptilia FANCM6
    Fanconi anemia, complementation group M
    39(a)
    1 ↔ 1
    GL343274.1(22914-87924)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.184002 Transcribed sequence with weak similarity to protein more 77.54(n)    AL965241.2 
    zebrafish
    (Danio rerio)
    Actinopterygii FANCM (3 of 3)6
    FANCM (2 of 3)6
    (see all 3)
    Fanconi anemia, complementation group M
    (see all 3)
    64(a)
    52(a)
    (see all 3)
    many → 1
    many → 1
    (see all 3)
    Zv9_NA437(27118-33285) ENSDARG00000091063
    Zv9_NA437(33843-35526) ENSDARG00000090610
    fruit fly
    (Drosophila melanogaster)
    Insecta CG79226
    --
    25(a)
    1 ↔ 1
    3R(17308047-17313007)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MPH1(YIR002C)4 Member of the DEAH family of helicases, functions in more   --   9(360396-357415) 854818  NP_012267.1 


    ENSEMBL Gene Tree for FANCM (if available)
    TreeFam Gene Tree for FANCM (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FANCM (see all 1455)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1460451681,2
    --26585095(+) GAAGAC/TGAGGG 1 -- us2k10--------
    rs2008952531,2
    C--26585192(+) CTCTGA/GTACCG 1 -- us2k10--------
    rs1115235711,2
    C--26585231(+) GATAAC/TGTCCT 1 -- us2k10--------
    rs1888863351,2
    --26585244(+) TTGGGA/CAGCTG 1 -- us2k10--------
    rs1152916341,2
    C,F--26585292(+) GGAACG/AGCCGC 1 -- us2k11Minor allele frequency- A:0.00NA 4110
    rs2012442941,2
    --26585342(+) CCGCCA/GCAGTT 1 -- us2k10--------
    rs1399070631,2
    C--26585507(+) CGCGGA/TCGTCT 1 -- us2k10--------
    rs1421849501,2
    C--26585734(+) GCTTCA/CGTCCT 1 -- us2k10--------
    rs788876821,2
    --26585926(+) CTGATA/GAGAAT 1 -- us2k10--------
    rs1401669991,2
    --26585934(+) AATGAC/TATTAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FANCM (45605136 - 45670093 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for FANCM:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2676798CNV Deletion23128226
    nsv901842CNV Loss21882294
    nsv832785CNV Loss17160897
    nsv901841CNV Loss21882294
    nsv901845CNV Loss21882294
    esv23137CNV Loss19812545
    nsv901844CNV Loss21882294
    nsv901843CNV Gain21882294

    Human Gene Mutation Database (HGMD): FANCM
    Locus Specific Mutation Databases (LSDB): FANCM

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FANCM
    DNA2.0 Custom Variant and Variant Library Synthesis for FANCM

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609644   
    OMIM disorders: 614087  
    UniProtKB/Swiss-Prot: FANCM_HUMAN, Q8IYD8
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 4 diseases for FANCM:    
    About MalaCards
    fanconi anemia, complementation group m    fancm-related fanconi anemia    fanconi's anemia    fanconi anemia, complementation group c

    2 diseases from the University of Copenhagen DISEASES database for FANCM:
    Bone marrow disease     Anemia

    Find genes that share disorders with FANCM           About GenesLikeMe

    2 Novoseek inferred disease relationships for FANCM gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fanconis anemia 91.7 5 18285517 (1), 20064461 (1), 19158388 (1), 19861535 (1)
    cancer 25.2 1 19861535 (1)

    GeneTests: FANCM
    GeneReviews: FANCM
    Genetic Association Database (GAD): FANCM
    Human Genome Epidemiology (HuGE) Navigator: FANCM (6 documents)

    Export disorders for FANCM gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FANCM gene, integrated from 10 sources (see all 51):
    (articles sorted by number of sources associating them with FANCM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. (PubMed id 16116422)1, 2, 3 Meetei A.R.... Wang W. (Nat. Genet. 2005)
    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. (PubMed id 10997877)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2000)
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features. (PubMed id 19536649)1, 4 Barroso E....Ribas G. (Breast Cancer Res. Treat. 2009)
    5. Polymorphic variants in hereditary pancreatic cancer genes are not associated with pancreatic cancer risk. (PubMed id 19690177)1, 4 McWilliams R.R....Petersen G.M. (amp 2009)
    6. Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition. (PubMed id 19737859)1, 4 GarcA-a M.J....BenA-tez J. (Carcinogenesis 2009)
    7. Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM. (PubMed id 17289582)1, 2 Ciccia A....West S.C. (Mol. Cell 2007)
    8. The vertebrate Hef ortholog is a component of the Fanconi anemia tumor-suppressor pathway. (PubMed id 16116434)1, 2 Mosedale G.... Patel K.J. (Nat. Struct. Mol. Biol. 2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 57697 HGNC: 23168 AceView: KIAA1596 Ensembl:ENSG00000187790 euGenes: HUgn57697
    ECgene: FANCM Kegg: 57697 H-InvDB: FANCM

    (According to HUGE)
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    HUGE: KIAA1596

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for FANCM Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FANCM Genetics and Cytogenetics in Oncology and Haematology
    Fanconi Anemia Mutation Databasehttp://www.rockefeller.edu/fanconi/mutate/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FANCM[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FANCM gene:
    Search GeneIP for patents involving FANCM

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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