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

FOXD3 Gene

protein-coding   GIFtS: 54
GCID: GC01P063788

forkhead box D3
 Explore 14 diseases affiliated with
FOXD3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FOXD3    

Aliases
for FOXD3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Forkhead Box D31 2     AIS12 5
HFH21 2 3     VAMAS22
Genesis1 2     Forkhead Box Protein D32
HNF3/FH Transcription Factor Genesis2 3     

External Ids:    HGNC: 38041   Entrez Gene: 270222   Ensembl: ENSG000001871407   OMIM: 6115395   UniProtKB: Q9UJU53   

Export aliases for FOXD3 gene to outside databases

Previous GC identifers: GC01P063723 GC01P062711 GC01P063146 GC01P063158 GC01P063500 GC01P063561 GC01P061896


Summaries
for FOXD3 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 FOXD3:
This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain.
Mutations in this gene cause autoimmune susceptibility 1. (provided by RefSeq, Nov 2008)

UniProtKB/Swiss-Prot: FOXD3_HUMAN, Q9UJU5
Function: Binds to the consensus sequence 5'-A[AT]T[AG]TTTGTTT-3' and acts as a transcriptional repressor. Also acts as
a transcriptional activator. Promotes development of neural crest cells from neural tube progenitors. Restricts neural
progenitor cells to the neural crest lineage while suppressing interneuron differentiation. Required for maintenance
of pluripotent cells in the pre-implantation and peri-implantation stages of embryogenesis

Gene Wiki entry for FOXD3


Genomic Views
for FOXD3 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FOXD3 gene promoter:
         E2F-4   E2F-3a   E2F-5   LHX3b/Lhx3b   CUTL1   E2F-2   LCR-F1   E2F   E2F-1   LHX3a/Lhx3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FOXD3 promoter sequence
   Search SABiosciences Chromatin IP Primers for FOXD3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FOXD3


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

Entrez Gene cytogenetic band: 1p31.3   Ensembl cytogenetic band:  1p31.3   HGNC cytogenetic band: 1p31.3

FOXD3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FOXD3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P063788:  view genomic region     (about GC identifiers)

Start:
 63,788,730 bp from pter      End:
 63,790,797 bp from pter
Size:
 2,068 bases      Orientation:
 plus strand

Proteins
for FOXD3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: FOXD3_HUMAN, Q9UJU5 (See protein sequence)
Recommended Name: Forkhead box protein D3  
Size: 478 amino acids; 47630 Da
Subcellular location: Nucleus (Probable)
Secondary accessions: Q9BYM2 Q9UDD1

Explore the universe of human proteins at neXtProt for FOXD3: NX_Q9UJU5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UJU5

    • FOXD3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_036315.1  
    ENSEMBL proteins: 
     ENSP00000360157  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: FOXD3
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    Novus Biologicals FOXD3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for FOXD3

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin IDA--
    GO:0005667transcription factor complex IBA--


    FOXD3 for ontologies           About GeneDecksing



    FOXD3 Antibody Products: 
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    Uscn Antibodies for FOXD3
    ThermoFisher Antibodies for FOXD3

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    Uscn ELISAs and CLIAs for FOXD3

    Protein Domains /
    Families
    for FOXD3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    FOXD3 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR011991 WHTH_trsnscrt_rep_DNA-bd_dom
     IPR018122 TF_fork_head_CS
     IPR001766 TF_fork_head

    Graphical View of Domain Structure for InterPro Entry Q9UJU5

    ProtoNet protein and cluster: Q9UJU5

    UniProtKB/Swiss-Prot: FOXD3_HUMAN, Q9UJU5
    Similarity: Contains 1 fork-head DNA-binding domain


    Function
    for FOXD3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: FOXD3_HUMAN, Q9UJU5
    Function: Binds to the consensus sequence 5'-A[AT]T[AG]TTTGTTT-3' and acts as a transcriptional repressor. Also acts as
    a transcriptional activator. Promotes development of neural crest cells from neural tube progenitors. Restricts neural
    progenitor cells to the neural crest lineage while suppressing interneuron differentiation. Required for maintenance
    of pluripotent cells in the pre-implantation and peri-implantation stages of embryogenesis

         Genatlas biochemistry entry for FOXD3:
    transcription factor-like,restrictively expressed in hematopoietic cells,with a Drosophila homeo fork head DNA binding
    domain,mouse hepatocyte nuclear factor 3 homolog

    10/546 SABiosciences Target genes for FOXD3 (see all 546):
    ABCB7 ABCC2 ACAT2 ACOXL ACRBP ACSS3 ADAMTS20 ADAMTSL2 AFAP1L1 AGFG1

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FOXD3
    8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate FOXD3 (see all 24):
    hsa-miR-520d-5p hsa-miR-374a hsa-miR-410 hsa-miR-548a-3p hsa-miR-548x hsa-miR-3613-3p hsa-miR-4330 hsa-miR-3143
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene shRNA RFP: FOXD3
    OriGene siRNA: FOXD3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FOXD3

    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FOXD3 (see all 2)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FOXD3 

    Cell Line
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    Search LifeMap BioReagents cell lines for FOXD3

    In Situ Assay
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    Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000977RNA polymerase II regulatory region sequence-specific DNA binding IDA--
    GO:0001227RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IDA--
    GO:0003677DNA binding ----
    GO:0003690double-stranded DNA binding IBA--
    GO:0003700sequence-specific DNA binding transcription factor activity ISS--


    FOXD3 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Foxd3tm1Lby for FOXD3
         10 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Foxd3):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     mortality/aging  nervous system  respiratory system  skeleton  vision/eye 

    FOXD3 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for FOXD3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Wnt / Hedgehog / Notch
    		Wnt / Hedgehog / Notch1.00
    2Neural Crest Differentiation
    		Neural Crest Differentiation1.00
    3Oct4 in Mammalian ESC Pluripotency
    		Oct4 in Mammalian ESC Pluripotency1.00
    4Nanog in Mammalian ESC Pluripotency
    		Nanog in Mammalian ESC Pluripotency1.00
    5Transcriptional Regulatory Network in Embryonic Stem Cell
    		Transcriptional Regulatory Network in Embryonic Stem Cell1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for FOXD3
        Transcriptional Regulatory Network in Embryonic Stem Cell
    Oct4 in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency

    1 Cell Signaling Technology (CST) Pathway for FOXD3
        Wnt / Hedgehog / Notch

    2 BioSystems Pathways for FOXD3 
        Wnt Signaling Pathway and Pluripotency
    Neural Crest Differentiation



    FOXD3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FOXD3

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for FOXD3 (Q9UJU51, 3 ENSP000003601574) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    POU5F1Q018601, 3, ENSP000002599154EBI-475674,EBI-475687 I2D: score=2 STRING: ENSP00000259915
    --ENSP000003916814STRING: ENSP00000391681
    About this table

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0001658branching involved in ureteric bud morphogenesis IBA--
    GO:0001701in utero embryonic development ISS--
    GO:0001755neural crest cell migration IBA--
    GO:0001822kidney development IBA--


    FOXD3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for FOXD3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 FOXD3
    Search CenterWatch for drugs/clinical trials and news about FOXD3 

    Transcripts
    for FOXD3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for FOXD3 gene: 
    NM_012183.2  

    Unigene Cluster for FOXD3:

    Forkhead box D3
    Hs.546573  [show with all ESTs]
    Unigene Representative Sequence: NM_012183
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000371116(uc001dax.2)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FOXD3
    8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate FOXD3 (see all 24):
    hsa-miR-520d-5p hsa-miR-374a hsa-miR-410 hsa-miR-548a-3p hsa-miR-548x hsa-miR-3613-3p hsa-miR-4330 hsa-miR-3143
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FOXD3 (see all 4)
    OriGene shRNA RFP: FOXD3
    OriGene siRNA: FOXD3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FOXD3
    Clone
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    GenScript: all cDNA clones in your preferred vector: FOXD3 (NM_012183)
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FOXD3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FOXD3

    Additional cDNA sequence: 

    AF086235.1 L12142.1 

    2 DOTS entries:

    DT.95176026  DT.65287892 

    1 AceView cDNA sequence:

    NM_012183 

    GeneLoc Exon Structure


    Expression
    for FOXD3 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

    FOXD3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    FOXD3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/11 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 11) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Head MesenchymeHead MesenchymeRhombencephalic Neural Crest CellsNeural Crest
    Head MesenchymePrechordal MesenchymeDiencephalic Neural Crest CellsNeural Crest
    Head MesenchymePrechordal MesenchymeMesencephalic Neural Crest CellsNeural Crest
    Neural CrestCardiac Neural CrestCardiac Neural Crest CellsNeural Crest
    Neural CrestCranial Neural CrestCranial Neural Crest CellsNeural Crest
    Neural CrestTrunk Neural CrestTrunk Neural Crest CellsNeural Crest
    Neural EctodermNeural Plate BorderNeural Crest CellsNeural Crest
    Primitive StreakNotochordNotochord CellsCartilage
    Primitive StreakPrechordal PlatePrechordal Plate CellsEarly Embryo
    Primitive StreakPrimitive NodePrimitive Node CellsEarly Embryo
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 5 LifeMap Cells 
    NameCategory
    Induced pluripotent stem cells (ALS patient) (Induced Pluripotent Stem Cell)Early Embryo, Fibroblast
    HSF-1 (UC01) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Blimp1- mVenus and stella-ECFP genetically modified stem cells (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Neural crest-like cells (Directed differentia...)
    Neurospheres (Generation of neuros...)

    See FOXD3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FOXD3

    SOURCE GeneReport for Unigene cluster: Hs.546573

    UniProtKB/Swiss-Prot: FOXD3_HUMAN, Q9UJU5
    Tissue specificity: Expressed in chronic myeloid leukemia, Jurkat T-cell leukemia and teratocarcinoma cell lines, but
    not in any other cell lines or normal tissues examined

        SABiosciences Expression via Pathway-Focused PCR Arrays including FOXD3: 
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              Notch Signaling Targets in human mouse rat
              Cell Lineage Identification in human mouse rat
              Embryonic Stem Cells in human mouse rat

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for FOXD3 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.

    Orthologs for FOXD3 gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves FOXD3_CHICK6
    		 Forkhead box protein D3
    		 99(a)
    		 1 ↔ 1
    		 Un(18557202-18557513)
    lizard
    (Anolis carolinensis)    		 Reptilia FOXD36
    		 --
    		 70(a)
    		 1 ↔ 1
    		 4(99388059-99389078)
    African clawed frog
    (Xenopus laevis)    		 Amphibia foxd3b-A2 winged helix transcription factor 76.16(n)    AJ298866.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii foxd32 forkhead box D3 77.11(n)   30548  AF052249.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta fd59A3 embryonic morphogenesis transcription factor 88(a)
    (best of 2)    		   59B4   --
    worm
    (Caenorhabditis elegans)    		 Secernentea unc-1303 fork head domain protein 77(a)   II(11281899-11283574)   --


    ENSEMBL Gene Tree for FOXD3 (if available)
    TreeFam Gene Tree for FOXD3 (if available) 

    Paralogs
    for FOXD3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FOXD3 gene
    FOXF12  FOXA22  FOXD4L12  FOXF22  FOXC22  FOXB12  FOXI22  FOXE32  
    FOXC12  FOXD4L22  FOXQ12  FOXD4L32  FOXA32  FOXD12  FOXD4L52  FOXD4L42  
    FOXE12  FOXL12  FOXA12  FOXB22  FOXI12  FOXD4L62  FOXS12  FOXD22  
    FOXL22  FOXD42  
    9 SIMAP similar genes for FOXD3 using alignment to 1 protein entry:     FOXD3_HUMAN:
    FOXD4L2    FOXD4L4    FOXD4L5    FOXE1    FOXD4    FOXD4L1
    FOXD4L3    FOXD4L6    FOXD1

    FOXD3 for paralogs           About GeneDecksing



    Genomic Variants
    for FOXD3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/41 NCBI SNPs in FOXD3 are shown (see all 41)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs22741871,2
    		C,F,--61896982(+) CCGCCC/ACACCA 3 /P syn1 us2k1 ese32Minor allele frequency- A:0.17EA NA 1622
    rs120719191,2
    		C,--61898803(+) ACACAA/GCTTTG 1 -- ut31 ese30--------
    rs1148919711,2
    		F,--63786872(+) TGAGGG/CAGGAA 2 -- us2k1 int11Minor allele frequency- C:0.03WA 118
    rs1930864671,2
    		--63787006(+) GAAATA/CCCCAC 2 -- int1 us2k10--------
    rs1853504461,2
    		--63787238(+) CCCGGA/GAAGTC 2 -- int1 us2k10--------
    rs1488119321,2
    		--63787316(+) CTCTTC/TCCGGA 2 -- us2k1 int10--------
    rs1434513811,2
    		--63787569(+) AATACA/GTACAG 2 -- us2k1 int10--------
    rs1897528881,2
    		--63787716(+) TAGCAA/GGAGGG 2 -- us2k1 int10--------
    rs1814144511,2
    		--63787804(+) TTAAAA/GCACGA 2 -- int1 us2k10--------
    rs1513177931,2
    		--63787855(+) GAGTGC/TGACAA 2 -- int1 us2k10--------

    HapMap Linkage Disequilibrium report for FOXD3 (63788730 - 63790797 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FOXD3: --
    Human Gene Mutation Database (HGMD): FOXD3

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    Disorders / Diseases
    for FOXD3 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    FOXD3 for disorders           About GeneDecksing

    OMIM gene information: 611539   
    OMIM disorders: 607836  
    UniProtKB/Swiss-Prot: FOXD3_HUMAN, Q9UJU5
  • Defects in FOXD3 are associated with susceptibility to autoimmune disease type 1 (AIS1) [MIM:607836]. AIS1 is
    • a disorder characterized by the association of vitiligo with autoimmune thyroiditis (Hashimoto thyroiditis)

    14 diseases for FOXD3:    About MalaCards
    senile entropion    entropion    vestibular nystagmus    trichomoniasis
    chronic myeloid leukemia    myeloid leukemia    nystagmus    teratocarcinoma
    vitiligo    leukemia    t-cell leukemia    tuberculosis
    melanoma    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for FOXD3:
    Entropion     Vestibular nystagmus     Vitiligo
    Human Genome Epidemiology (HuGE) Navigator: FOXD3 (2 documents)

    Export disorders for FOXD3 gene to outside databases

    Publications
    for FOXD3 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 FOXD3 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with FOXD3)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Drosophila forkhead homologues are expressed in a lineage-restricted manner in human hematopoietic cells. (PubMed id 8499623)1, 2, 3 Hromas R.... Klemsz M. (1993)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    3. Candidate functional promoter variant in the FOXD3 melanoblast developmental regulator gene in autosomal dominant vitiligo. (PubMed id 16098053)1, 2 Alkhateeb A.... Spritz R.A. (2005)
    4. The embryonic stem cell transcription factors Oct-4 and FoxD3 interact to regulate endodermal-specific promoter expression. (PubMed id 11891324)1, 2 Guo Y.... Hromas R. (2002)
    5. Modulation of FOXD3 activity in human embryonic stem c ells directs pluripotency and paraxial mesoderm fates. (PubMed id 22887036)1 Arduini B.L. and Brivanlou A.H. (2012)
    6. Analysis of FOXD3 sequence variation in human ocular d isease. (PubMed id 22815627)1 Kloss B.A....Semina E.V. (2012)
    7. FOXD3 regulates migration properties and Rnd3 express ion in melanoma cells. (PubMed id 21478267)1 Katiyar P. and Aplin A.E. (2011)
    8. FOXD3 is a mutant B-RAF-regulated inhibitor of G(1)-S progression in melanoma cells. (PubMed id 20332228)1 Abel E.V. and Aplin A.E. (2010)
    9. YY1 and FoxD3 regulate antiretroviral zinc finger protein OTK18 promoter activation induced by HIV-1 infection. (PubMed id 19034670)1 Buescher J.L....Ikezu T. (2009)
    10. Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1. (PubMed id 11179011)1 Saleem R.A....Walter M.A. (2001)

    External Searches for FOXD3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
    		PubMed
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    Genome Databases showing FOXD3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 27022 HGNC: 3804 AceView: FOXD3 Ensembl:ENSG00000187140 euGenes: HUgn27022
    ECgene: FOXD3 H-InvDB: FOXD3

    Other Databases showing FOXD3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing FOXD3 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 FOXD3 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for FOXD3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for FOXD3 gene:
    Search GeneIP for patents involving FOXD3

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



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