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FANCL Gene

protein-coding   GIFtS: 68
GCID: GC02M058298

Fanconi Anemia, Complementation Group L

(Previous name: PHD finger protein 9)
(Previous symbol: PHF9)
  See 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 L1 2     FAAP432 3
PHF91 2 3 5     POG2
PHD Finger Protein 91 2     E3 Ubiquitin-Protein Ligase FANCL2
Fanconi Anemia Group L Protein2 3     EC 6.3.2.-3
Fanconi Anemia-Associated Polypeptide Of 43 KDa2 3     

External Ids:    HGNC: 207481   Entrez Gene: 551202   Ensembl: ENSG000001153927   OMIM: 6081115   UniProtKB: Q9NW383   

Export aliases for FANCL gene to outside databases

Previous GC identifers: GC00U912964 GC02M058360 GC02M058127


(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 FANCL 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 L. Alternative splicing results in two transcript variants
encoding different isoforms. (provided by RefSeq, Jul 2008)

GeneCards Summary for FANCL Gene:
FANCL (Fanconi anemia, complementation group L) is a protein-coding gene. Diseases associated with FANCL include fanconi anemia, complementation group l, and western equine encephalitis. GO annotations related to this gene include ubiquitin-protein ligase activity and ubiquitin protein ligase binding.

UniProtKB/Swiss-Prot: FANCL_HUMAN, Q9NW38
Function: Ubiquitin ligase protein that mediates monoubiquitination of FANCD2, a key step in the DNA damage
pathway. Also mediates monoubiquitination of FANCI. May stimulate the ubiquitin release from UBE2W. May be
required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed
for spermatogonial proliferation after birth

Gene Wiki entry for FANCL 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FANCL gene promoter:
         ISGF-3   LHX3b/Lhx3b   AML1a   Bach2   Max   FOXJ2 (long isoform)   LHX3a/Lhx3a   GR-alpha   FOXJ2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFANCL promoter sequence
   Search Chromatin IP Primers for FANCL

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


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

Entrez Gene cytogenetic band: 2p16.1   Ensembl cytogenetic band:  2p16.1   HGNC cytogenetic band: 2p16.1

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M058298:  view genomic region     (about GC identifiers)

Start:
58,386,378 bp from pter      End:
58,468,515 bp from pter
Size:
82,138 bases      Orientation:
minus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: FANCL_HUMAN, Q9NW38 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase FANCL  
Size: 375 amino acids; 42905 Da
Subunit: Interacts with GGN (By similarity). Belongs to the multisubunit FA complex composed of FANCA, FANCB,
FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients. In complex with FANCF,
FANCA and FANCG, but not with FANCC, nor FANCE, interacts with HES1; this interaction may be essential for the
stability and nuclear localization of FA core complex proteins. Interacts with FANCI. Interacts (via the
RING-type zinc finger) with UBE2T and UBE2W
Caution: Although PubMed:12724401 reports that it contains a PHD-type zinc finger, it contains a RING-type zinc
finger. Moreover, PHD-type zinc fingers do not have any ubiquitin ligase activity
2 PDB 3D structures from and Proteopedia for FANCL:
3ZQS (3D)        4CCG (3D)    
Secondary accessions: Q6GU60
Alternative splicing: 2 isoforms:  Q9NW38-1   Q9NW38-2   

Explore the universe of human proteins at neXtProt for FANCL: NX_Q9NW38

Explore proteomics data for FANCL at MOPED

Post-translational modifications: 

  • The RING-type zinc finger domain is monoubiquitinated in the presence of UBE2T and UBE2W1
  • Ubiquitination2 at Lys49, Lys369
  • Modification sites at PhosphoSitePlus

  • See FANCL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001108108.1  NP_060532.2  

    ENSEMBL proteins: 
     ENSP00000386097   ENSP00000233741   ENSP00000385021   ENSP00000384046   ENSP00000401280  
     ENSP00000390991   ENSP00000400969   ENSP00000389448   ENSP00000441431  
    Reactome Protein details: Q9NW38

    FANCL Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for FANCL

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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
    PHF: Zinc fingers, PHD-type

    4 InterPro protein domains:
     IPR001841 Znf_RING
     IPR019162 FancL_WD-rpt_cont_dom
     IPR013083 Znf_RING/FYVE/PHD
     IPR026848 Fancl

    Graphical View of Domain Structure for InterPro Entry Q9NW38

    ProtoNet protein and cluster: Q9NW38

    1 Blocks protein domain: IPB001841 Zn-finger

    UniProtKB/Swiss-Prot: FANCL_HUMAN, Q9NW38
    Domain: The UBC-RWD region (URD) region mediates interaction with FANCI and FANCD2 (PubMed:21775430)
    Similarity: Contains 1 RING-type zinc finger


    FANCL for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FANCL_HUMAN, Q9NW38
    Function: Ubiquitin ligase protein that mediates monoubiquitination of FANCD2, a key step in the DNA damage
    pathway. Also mediates monoubiquitination of FANCI. May stimulate the ubiquitin release from UBE2W. May be
    required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed
    for spermatogonial proliferation after birth

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity TAS--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
    GO:0016874ligase activity ----
    GO:0031625ubiquitin protein ligase binding IPI16916645
         
    FANCL for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for FANCL:
     Increased cell death HMECs cel 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Fancl):
     cellular  embryogenesis  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism 
     mortality/aging  reproductive system 

    FANCL for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Fancltm1Ceb for FANCL

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FANCL
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FANCL

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    GenScript: all cDNA clones in your preferred vector (see all 2): FANCL (NM_018062)
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    (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
    FANCL_HUMAN, Q9NW38: Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005635nuclear envelope IEA--
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IEA--
    GO:0043240Fanconi anaemia nuclear complex IDA--

    FANCL for ontologies           About GeneDecksing


    (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 FANCL About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1BRCA1 Pathway
    BRCA1 Pathway
    Fanconi's Anaemia Pathway0.00
    2DNA Repair
    DNA Repair0.45
    3Class I MHC mediated antigen processing and presentation
    Ubiquitin mediated proteolysis0.35
    4Meiosis (EMD)
    Meiosis
    5Fanconi Anemia pathway (REACTOME)
    Fanconi Anemia pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for FANCL
        Fanconi's Anaemia Pathway
    BRCA1 Pathway

    2 GeneGo (Thomson Reuters) Pathways for FANCL
        DNA damage Role of Brca1 and Brca2 in DNA repair
    DNA damage ATM/ATR regulation of G1/S checkpoint

    1 BioSystems Pathway for FANCL
        BARD1 signaling events


    1 Reactome Pathway for FANCL
        Fanconi Anemia pathway


    2 Kegg Pathways  (Kegg details for FANCL):
        Fanconi anemia pathway
    Ubiquitin mediated proteolysis

    UniProtKB/Swiss-Prot: FANCL_HUMAN, Q9NW38
    Pathway: Protein modification; protein ubiquitination


    FANCL for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including FANCL: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for FANCL

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

    Selected Interacting proteins for FANCL (Q9NW382, 3 ENSP000003850214) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FANCBQ8NB912, 3, ENSP000003268194MINT-4789189 MINT-4789279 MINT-4789226 MINT-4789371 I2D: score=1 STRING: ENSP00000326819
    FANCAO153602, 3, ENSP000003739524MINT-4789189 MINT-4789226 MINT-4789325 I2D: score=1 STRING: ENSP00000373952
    FANCGO152872, 3, ENSP000003679104MINT-4789189 MINT-4789226 MINT-4789325 I2D: score=1 STRING: ENSP00000367910
    C17orf70Q0VG062, 3, ENSP000003332834MINT-4789189 MINT-4789279 MINT-4789226 MINT-4789371 MINT-4789325 I2D: score=1 STRING: ENSP00000333283
    FANCMQ8IYD82, 3, ENSP000002674304MINT-4789189 MINT-4789279 MINT-4789226 I2D: score=1 STRING: ENSP00000267430
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair TAS--
    GO:0006513protein monoubiquitination IDA16916645
    GO:0006974cellular response to DNA damage stimulus IMP16916645
    GO:0007276gamete generation IEA--
    GO:0042127regulation of cell proliferation IEA--

    FANCL for ontologies           About GeneDecksing



    (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 FANCL

    4 HMDB Compounds for FANCL    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    1 Novoseek inferred chemical compound relationship for FANCL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mitomycin c 54.2 3 18277096 (1)



    FANCL for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FANCL gene (2 alternative transcripts): 
    NM_001114636.1  NM_018062.3  

    Unigene Cluster for FANCL:

    Fanconi anemia, complementation group L
    Hs.631890  [show with all ESTs]
    Unigene Representative Sequence: BC037570
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000403295 ENST00000233741(uc002rzw.4 uc010fce.3) ENST00000402135(uc002rzx.4)
    ENST00000403676 ENST00000449070(uc010fcf.1) ENST00000446381 ENST00000470506
    ENST00000427708 ENST00000417361 ENST00000481670 ENST00000540646
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    Additional mRNA sequence: 

    AK001197.1 AK225147.1 AK297736.1 AK309671.1 BC009042.1 BC037570.1 BC041627.1 BC054517.1 

    18 DOTS entries:

    DT.75182666  DT.448234  DT.92387226  DT.120965414  DT.92440954  DT.100783920  DT.70103087  DT.86852791 
    DT.92440947  DT.95279769  DT.100689663  DT.100783923  DT.120965399  DT.100026572  DT.100035558  DT.448235 
    DT.92440943  DT.92440944 

    Selected AceView cDNA sequences (see all 129):

    AI654432 BC041627 BM786985 BU676880 BU156193 BI916786 BP373332 CR597729 
    BC009042 BC054517 BP376643 AL043470 CD105578 AA258135 AI085600 AU126989 
    BF475351 BX444601 AA280569 AU132311 NM_018062 CB156727 CF529786 BM980207 

    GeneLoc Exon Structure


    (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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    FANCL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCGGTGACGG
    FANCL Expression
    About this image


    FANCL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    FANCL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FANCL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.631890
        Pathway & Disease-focused RT2 Profiler PCR Array including FANCL: 
              Ubiquitin Ligases in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FANCL

    (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 eukaryotes.

    Orthologs for FANCL gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fancl1 , 5 Fanconi anemia, complementation group L1, 5 83.42(n)1
    79.41(a)1
      11 (15.85 cM)5
    670301  NM_025923.31  NP_080199.11 
     263861355 
    chicken
    (Gallus gallus)
    Aves FANCL1 Fanconi anemia, complementation group L 73.01(n)
    70.65(a)
      421202  NM_001033941.1  NP_001029113.1 
    lizard
    (Anolis carolinensis)
    Reptilia FANCL6
    Fanconi anemia, complementation group L
    64(a)
    1 ↔ 1
    1(257402416-257439522)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fancl1 Fanconi anemia, complementation group L 68.94(n)
    68.31(a)
      493212  NM_001007481.1  NP_001007482.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fancl1 Fanconi anemia, complementation group L 63.72(n)
    59.67(a)
      406255  NM_212982.1  NP_998147.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Fancl6
    Fancl
    22(a)
    1 ↔ 1
    3R(5877230-5878585)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G657401 AT5G65740 45.82(n)
    35.27(a)
      836703  NM_001037075.2  NP_001032152.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g07269001 Os03g0726900 47.99(n)
    36.84(a)
      4333972  NM_001057673.1  NP_001051138.1 


    ENSEMBL Gene Tree for FANCL (if available)
    TreeFam Gene Tree for FANCL (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 FANCL (see all 1744)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs46722311,2
    C,H--58143552(+) gtggcA/Gaaaat 2 -- int10--------
    rs46722321,2
    C,H--58143554(+) ggcgaA/Taatca 2 -- int10--------
    rs1839702251,2
    --58185668(+) ACACAC/TACATA 2 -- int10--------
    rs1409067581,2
    C--58187598(+) AAAAA-/TAT   
      ATATAT
    ATATA
    2 -- int10--------
    rs1909611491,2
    --58187614(+) ATATAA/TATATA 2 -- int10--------
    rs1831114681,2
    --58187629(+) TATATA/CTCCAC 2 -- int10--------
    rs341413281,2
    C--58201680(+) TCTAT-/CATAGA 2 -- int10--------
    rs170493891,2
    C,F,H--58254123(+) TATTAT/CAGGAA 2 -- int110Minor allele frequency- C:0.06NA NS EA WA 676
    rs1810110491,2
    --58254132(+) AAATAC/TAATTA 2 -- int10--------
    rs8482901,2
    C,F,O,H--58254241(+) GCAAGA/TTGTTT 2 -- int110Minor allele frequency- T:0.06MN NS EA NA 866

    HapMap Linkage Disequilibrium report for FANCL (58386378 - 58468515 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for FANCL:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2662829CNV Deletion23128226
    nsv817995CNV Loss17921354
    nsv458052CNV Loss19166990
    nsv457985CNV Gain19166990
    nsv525988CNV Gain19592680

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

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

    (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.)
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    OMIM gene information: 608111   
    OMIM disorders: 614083  
    UniProtKB/Swiss-Prot: FANCL_HUMAN, Q9NW38
  • Fanconi anemia complementation group L (FANCL) [MIM:614083]: 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

  • Selected diseases for FANCL (see all 28):    
    About MalaCards
    fanconi anemia, complementation group l    western equine encephalitis    fanconi's anemia    fancl-related fanconi anemia
    hard palate cancer    brain stem glioma    fanconi anemia, complementation group b    fanconi anemia, complementation group m
    fanconi anemia, complementation group c    mutism    hereditary pancreatitis    bloom syndrome
    t cell deficiency    leukopenia    ependymoma    aplastic anemia
    encephalitis    meningioma    breast cancer    cervical cancer

    2 diseases from the University of Copenhagen DISEASES database for FANCL:
    Aplastic anemia     Mutism

    FANCL for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for FANCL gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fanconis anemia 94.2 4 16916645 (1), 16116424 (1), 19405097 (1), 19861535 (1)
    hnscc 53.5 2 17409780 (1), 16466850 (1)
    cancer 24 1 19861535 (1)
    breast cancer 17.9 1 19536649 (1)

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

    Export disorders for FANCL 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 FANCL gene, integrated from 10 sources (see all 70):
    (articles sorted by number of sources associating them with FANCL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mechanistic insight into site-restricted monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI. (PubMed id 19111657)1, 2, 9 Alpi A.F.... Patel K.J. (Mol. Cell 2008)
    2. UBE2T is the E2 in the Fanconi anemia pathway and undergoes negative autoregulation. (PubMed id 16916645)1, 2, 9 Machida Y.J.... Dutta A. (Mol. Cell 2006)
    3. Structural analysis of human FANCL, the E3 ligase in the Fanconi anemia pathway. (PubMed id 21775430)1, 2 Hodson C.... Walden H. (J. Biol. Chem. 2011)
    4. 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)
    5. FANCI binds branched DNA and is monoubiquitinated by UBE2T-FANCL. (PubMed id 19589784)1, 2 Longerich S.... Sung P. (J. Biol. Chem. 2009)
    6. 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)
    7. HES1 is a novel interactor of the Fanconi anemia core complex. (PubMed id 18550849)1, 2 Tremblay C.S....Carreau M. (Blood 2008)
    8. UBE2T, the Fanconi anemia core complex, and FANCD2 are recruited independently to chromatin: a basis for the regulation of FANCD2 monoubiquitination. (PubMed id 17938197)1, 2 Alpi A.... Patel K.J. (Mol. Cell. Biol. 2007)
    9. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    10. A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. (PubMed id 16116422)1, 2 Meetei A.R.... Wang W. (Nat. Genet. 2005)

    (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)
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    Entrez Gene: 55120 HGNC: 20748 AceView: FANCL Ensembl:ENSG00000115392 euGenes: HUgn55120
    ECgene: FANCL Kegg: 55120 H-InvDB: FANCL

    (According to HUGE)
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    (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 FANCL Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FANCL Genetics and Cytogenetics in Oncology and Haematology
    Fanconi Anemia Mutation Databasehttp://www.rockefeller.edu/fanconi/mutate/jumpl.html
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FANCL[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 FANCL gene:
    Search GeneIP for patents involving FANCL

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



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