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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FANCM Gene

protein-coding   GIFtS: 63
GCID: GC14P045605

Fanconi Anemia, Complementation Group M

(Previous name: KIAA1596)
(Previous symbol: KIAA1596)
  11 related diseases
at
MalaCards
 

Aliases
for FANCM gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
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


Summaries
for FANCM gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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 fancm-related fanconi anemia, and anemia, and among its related super-pathways are Nucleotide Excision Repair and Fanconi's Anaemia Pathway. 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




Genomic Views
for FANCM gene

(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NT_026437.12  NC_018925.2  
Regulatory elements:
   SABiosciences 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 plasmid: FANCM promoter sequence
   Search SABiosciences Chromatin IP Primers for FANCM

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for FANCM gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
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
Subcellular location: Nucleus
Sequence caution: Sequence=BAB13422.1; Type=Miscellaneous discrepancy; Note=Intron retention;
3 PDB 3D structures from and Proteopedia for FANCM:
4DAY (3D)        4DRB (3D)        4E45 (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:

  • UniProtKB: Phosphorylated; hyperphosphorylated in response to genotoxic stress
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IYD8

    • 3 DME Specific Peptides for FANCM (Q8IYD8)
     APTKPLV  IQILESF  QRMGRTGRKR 

    FANCM Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FANCM Protein Expression
    REFSEQ proteins: NP_065988.1  
    ENSEMBL proteins: 
     ENSP00000450596   ENSP00000267430   ENSP00000442493   ENSP00000452033   ENSP00000450632  
     ENSP00000451846   ENSP00000450797  
    Reactome Protein details: Q8IYD8
    Human Recombinant Protein Products for FANCM: 
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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 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0043240Fanconi anaemia nuclear complex IDA--
    GO:0071821FANCM-MHF complex IDA--

    FANCM for ontologies           About GeneDecksing



    FANCM Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for FANCM 

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    Cloud-Clone Corp. ELISAs for FANCM 
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    Protein Domains /
    Families
    for FANCM gene

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

    5/8 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


    FANCM for domains           About GeneDecksing


    Function
    for FANCM gene

    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    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): 5/9 molecular function terms (GO ID links to tree view) (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--
         
    FANCM for ontologies           About GeneDecksing


    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 

    FANCM for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for FANCM 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FANCM

       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
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    8/10 QIAGEN miScript miRNA 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 plasmid: FANCM 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for FANCM
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of FANCM

    Clone
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    In Situ Assay
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    Pathways & Interactions
    for FANCM gene

    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for FANCM About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Nucleotide Excision Repair
    		DNA Repair0.46
    2Fanconi Anemia pathway
    		Fanconi Anemia pathway0.43
    3Fanconi anemia pathway
    		Fanconi anemia pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2        Reactome Pathways for FANCM
        DNA Repair
    Fanconi Anemia pathway


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


    FANCM for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FANCM

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

    5/29 Interacting proteins for FANCM (Q8IYD82, 3 ENSP000002674304) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FANCBQ8NB912, 3, ENSP000003268194MINT-4789189 MINT-4789279 MINT-4789226 I2D: score=1 STRING: ENSP00000326819
    FANCAO153602, 3, ENSP000003739524MINT-4789189 MINT-4789226 I2D: score=1 STRING: ENSP00000373952
    FANCGO152872, 3, ENSP000003679104MINT-4789189 MINT-4789226 I2D: score=1 STRING: ENSP00000367910
    STRA13A8MT692, 3, ENSP000003029514STRING: ENSP00000302951 MINT-8434669 MINT-8434303 I2D: score=1 
    APITD1Q8N2Z92, 3MINT-8434669 MINT-8434303 I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    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--

    FANCM for ontologies           About GeneDecksing



    Drugs & Compounds
    for FANCM gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FANCM

    Search CenterWatch for drugs/clinical trials and news about FANCM

    Transcripts
    for FANCM gene

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    8/10 QIAGEN miScript miRNA 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 plasmid: FANCM 3' UTR sequence
    Inhib. RNA
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    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 

    24/49 AceView cDNA sequences (see all 49):

    BQ434709 AK093422 AA424588 AW517262 CA976036 AA829389 AI745662 AA424633 
    BF516426 AX748116 AA412595 AU132940 AI565351 AL833656 AW170807 BC036056 
    AA789146 BE350003 AI673728 AA953838 BX280532 BX282356 AA044695 BM908069 

    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

    Expression
    for FANCM gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See FANCM Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FANCM

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

    (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)
    About This Section
    This gene was present in the common ancestor of animals and fungi.

    Orthologs for FANCM gene from 7/13 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 75.4(n)1
    66.8(a)1    		   12 (27.21 cM)5
    1048061  NM_178912.31  NP_849243.21 
     650756065 
    chicken
    (Gallus gallus)    		 Aves LOC1008579971 Fanconi anemia group M protein homolog 57.87(n)
    50.6(a)    		   100857997  XM_003641452.1  XP_003641500.1 
    lizard
    (Anolis carolinensis)    		 Reptilia FANCM6
    		 Uncharacterized protein
    		 37(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 fancm1 Fanconi anemia, complementation group M 55.14(n)
    52.84(a)    		   100006685  NM_001113660.1  NP_001107132.1 
    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
    for FANCM gene

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

    Genomic Variants
    for FANCM gene

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1455 SNPs in FANCM are shown (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
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FANCM
    DNA2.0 Custom Variant and Variant Library Synthesis for FANCM

    Disorders / Diseases
    for FANCM gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    		 OMIM gene information: 609644    OMIM disorders: --

    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

    • 11 diseases for FANCM:    About MalaCards
    fancm-related fanconi anemia    anemia    fanconi's anemia    hereditary pancreatitis
    leukopenia    bloom syndrome    breast cancer susceptibility    pancreatitis
    pancreatic cancer    breast cancer    squamous cell carcinoma

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

    FANCM for disorders           About GeneDecksing

    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

    Publications
    for FANCM gene

    (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)
    About This Section

    PubMed articles for FANCM gene, integrated from 9 sources (see all 46):
    (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. (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. (2000)
    3. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    4. The Fanconi anemia family of genes and its correlatio n with breast cancer susceptibility and breast cancer features. (PubMed id 19536649)1, 4 Barroso E....Ribas G. (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. (2009)
    6. Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FA NCD1/BRCA2 plays a major role in high-risk breast cancer predisposition. (PubMed id 19737859)1, 4 GarcA-a M.J....BenA-tez J. (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. (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. (2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2004)

    External Searches for FANCM gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing FANCM gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57697 HGNC: 23168 AceView: KIAA1596 Ensembl:ENSG00000187790 euGenes: HUgn57697
    ECgene: FANCM Kegg: 57697 H-InvDB: FANCM

    Other Databases showing FANCM gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1596

    Specialized Databases showing FANCM gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/FANCM

    Intellectual Property
    for FANCM gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



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    About This Section

     
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