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

FOXD4L1 Gene

protein-coding   GIFtS: 41
GCID: GC02P114256

Forkhead Box D4-Like 1

  Search for FOXD4L1
at  

(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
Forkhead Box D4-Like 11 2
FOXD4-Like 12 3
FOXD52
bA395L14.12
Forkhead Box D4 Like 12
Forkhead Box Protein D4-Like 12

External Ids:    HGNC: 185211   Entrez Gene: 2003502   Ensembl: ENSG000001844927   OMIM: 6110845   UniProtKB: Q9NU393   

Export aliases for FOXD4L1 gene to outside databases

Previous GC identifers: GC02P112177 GC02P114163 GC02P114351 GC02P113972


(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 FOXD4L1 Gene:
This gene is a member of the forkhead/winged-helix (FOX) family of transcription factors with highly conserved FOX
DNA-binding domains. Members of the FOX family of transcription factors are regulators of embryogenesis and may
play a role in human cancer. This gene lies in a region of chromosome 2 that surrounds the site where two
ancestral chromosomes fused to form human chromosome 2. This region is duplicated elsewhere in the human genome,
primarily in subtelomeric and pericentromeric locations, thus mutiple copies of this gene have been found.
(provided by RefSeq, Jul 2008)

GeneCards Summary for FOXD4L1 Gene: 
FOXD4L1 (forkhead box D4-like 1) is a protein-coding gene. GO annotations related to this gene include double-stranded DNA binding and sequence-specific DNA binding. An important paralog of this gene is FOXF1.




(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_000002.11  NC_018913.2  NT_022135.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FOXD4L1 gene promoter:
         TBP   C/EBPbeta   p53   LCR-F1   GATA-1   GATA-2   Pax-3   CP2   FOXO4   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFOXD4L1 promoter sequence
   Search SABiosciences Chromatin IP Primers for FOXD4L1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FOXD4L1


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

Entrez Gene cytogenetic band: 2q13   Ensembl cytogenetic band:  2q13   HGNC cytogenetic band: 2q14.1

FOXD4L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FOXD4L1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P114256:  view genomic region     (about GC identifiers)

Start:
114,256,661 bp from pter      End:
114,258,728 bp from pter
Size:
2,068 bases      Orientation:
plus strand

(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: FX4L1_HUMAN, Q9NU39 (See protein sequence)
Recommended Name: Forkhead box protein D4-like 1  
Size: 408 amino acids; 43610 Da
Subcellular location: Nucleus (By similarity)
Secondary accessions: B3KWN1 B9EGF3

Explore the universe of human proteins at neXtProt for FOXD4L1: NX_Q9NU39

Explore proteomics data for FOXD4L1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NU39

  • FOXD4L1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FOXD4L1 Protein Expression
    REFSEQ proteins: NP_036316.1  
    ENSEMBL proteins: 
     ENSP00000302756  

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    Cloud-Clone Corp. Proteins for FOXD4L1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005667transcription factor complex IBA--
    GO:0005730NOT nucleolus IDA--

    FOXD4L1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR011991 WHTH_DNA-bd_dom
     IPR018122 TF_fork_head_CS
     IPR001766 TF_fork_head

    Graphical View of Domain Structure for InterPro Entry Q9NU39

    ProtoNet protein and cluster: Q9NU39

    UniProtKB/Swiss-Prot: FX4L1_HUMAN, Q9NU39
    Similarity: Contains 1 fork-head DNA-binding domain


    FOXD4L1 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,
    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

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003690double-stranded DNA binding IBA--
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IBA--
    GO:0008134transcription factor binding IBA--
    GO:0008301DNA binding, bending IBA--
         
    FOXD4L1 for ontologies           About GeneDecksing


    Animal Models:
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    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FOXD4L1

    Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IBA--
    GO:0001658branching involved in ureteric bud morphogenesis IBA--
    GO:0001755neural crest cell migration IBA--
    GO:0001822kidney development IBA--
    GO:0006355regulation of transcription, DNA-dependent ----

    FOXD4L1 for ontologies           About GeneDecksing



    (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 FOXD4L1 (FX4L1)

    Search CenterWatch for drugs/clinical trials and news about FOXD4L1 / FX4L1

    (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,
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    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 FOXD4L1 gene: 
    NM_012184.4  

    Unigene Cluster for FOXD4L1:

    Forkhead box D4-like 1
    Hs.591554  [show with all ESTs]
    Unigene Representative Sequence: AK125398
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000306507(uc002tjw.4)
    miRNA
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    hsa-miR-19b hsa-miR-19a
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    Inhib. RNA
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    Additional mRNA sequence: 

    AF452723.1 AK122950.1 AK125398.1 AY344639.1 BC136428.1 

    4 DOTS entries:

    DT.120985299  DT.101983633  DT.121174326  DT.436073 

    11 AceView cDNA sequences:

    AF452723 NM_012184 AK125398 BV196388 AY344639 BV196386 BV190165 AK122950 
    BV196387 CB856755 AI860024 

    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™, 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

    FOXD4L1 expression in normal human tissues (normalized intensities)      FOXD4L1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    FOXD4L1 Expression
    About this image


    FOXD4L1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/23 selected tissues (see all 23) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             umbilical cord reticulocytes   
     
     Lymph (Hematopoietic System)    fully expand to see all 2 entries
             lymph node ; non-germinal center cells   

    See FOXD4L1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FOXD4L1

    SOURCE GeneReport for Unigene cluster: Hs.591554
        SABiosciences Custom PCR Arrays for FOXD4L1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOXD4L1

    (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.

    Orthologs for FOXD4L1 gene from 4/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Foxd41 forkhead box D4 73.48(n)
    64.64(a)
      14237  NM_008022.2  NP_032048.1 
    zebrafish
    (Danio rerio)
    Actinopterygii foxd56
    forkhead box D5
    38(a)
    1 → many
    8(31300987-31302137)
    fruit fly
    (Drosophila melanogaster)
    Insecta fd59A6
    forkhead domain 59A
    22(a)
    1 → many
    2R(18754044-18758229)
    worm
    (Caenorhabditis elegans)
    Secernentea unc-1306
    Protein UNC-130
    30(a)
    1 → many
    II(11281986-11283954)


    ENSEMBL Gene Tree for FOXD4L1 (if available)
    TreeFam Gene Tree for FOXD4L1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FOXD4L1 gene
    FOXF12  FOXA22  FOXF22  FOXC22  FOXI22  FOXB12  FOXE32  FOXC12  
    FOXD4L22  FOXD4L32  FOXA32  FOXD4L52  FOXD12  FOXD32  FOXD4L42  FOXL12  
    FOXA12  FOXE12  FOXB22  FOXI12  FOXD4L62  FOXS12  FOXD22  FOXL22  
    FOXD42  
    9 SIMAP similar genes for FOXD4L1 using alignment to 1 protein entry:     FX4L1_HUMAN:
    FOXD4L2    FOXD4L3    FOXD4L4    FOXD4L5    FOXD4L6    FOXD4
    FOXD3    FOXE3    FOXC2

    FOXD4L1 for paralogs           About GeneDecksing



    (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

    10/128 SNPs in FOXD4L1 are shown (see all 128)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs742673441,2
    C--114255204(+) TGAAAA/GAATGA 1 -- us2k12Minor allele frequency- G:0.25NA 4
    rs75948471,2
    C,F--114255236(+) acgccG/Tgtaat 1 -- us2k13Minor allele frequency- T:0.33NA 6
    rs2002302561,2
    C--114255298(+) GACCAC/TCCTGG 1 -- us2k10--------
    rs1923081041,2
    --114255351(+) TTAGCC/TGGGCG 1 -- us2k10--------
    rs748271701,2
    C--114255358(+) GGCGTG/AGTGGC 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1832773191,2
    --114255388(+) TACTCG/TGGAGG 1 -- us2k10--------
    rs76069641,2
    C,F--114255401(+) gaggcA/Gggaga 1 -- us2k13Minor allele frequency- G:0.17NA 6
    rs794785621,2
    F--114255444(+) GGTCCT/GAGATT 1 -- us2k12Minor allele frequency- G:0.25NA 4
    rs29006791,2
    F--114255486(+) cgacaC/Acgtct 1 -- us2k13Minor allele frequency- A:0.17NA 6
    rs27579671,2
    C--114255629(+) gcctgC/Tgcaac 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FOXD4L1 (114256661 - 114258728 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for FOXD4L1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2675836CNV Deletion23128226
    esv28287CNV Gain19812545
    nsv874903CNV Gain21882294
    nsv874902CNV Gain21882294
    nsv834334CNV Gain17160897
    esv380CNV CNV17122850
    essv901CNV CNV17122850

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

    FOXD4L1 for disorders           About MalaCards
    OMIM gene information: 611084    OMIM disorders: --


    FOXD4L1 for disorders           About GeneDecksing


    Export disorders for FOXD4L1 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)
    About This Section

    PubMed articles for FOXD4L1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FOXD4L1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Diverse fates of paralogs following segmental duplication of telomeric genes. (PubMed id 15233989)1, 2, 3 Wong A....Ledbetter D.H. (2004)
    2. Gene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14.1 and paralogous regions. (PubMed id 12421752)1, 2, 3 Fan Y.... Trask B.J. (2002)
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    8. Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending. (PubMed id 7957066)1 Pierrou S....Carlsson P. (1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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
    Entrez Gene: 200350 HGNC: 18521 AceView: FOXD4L1 Ensembl:ENSG00000184492 euGenes: HUgn200350
    ECgene: FOXD4L1 H-InvDB: FOXD4L1

    (According to HUGE)
    About This Section
      --

    (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 FOXD4L1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FOXD4L1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FOXD4L1 gene:
    Search GeneIP for patents involving FOXD4L1

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



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