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Aliases for FOXD3 Gene

Aliases for FOXD3 Gene

  • Forkhead Box D3 2 3 5
  • HNF3/FH Transcription Factor Genesis 3 4
  • HFH2 3 4
  • Forkhead Box Protein D3 3
  • Genesis 3
  • VAMAS2 3
  • AIS1 3

External Ids for FOXD3 Gene

Previous GeneCards Identifiers for FOXD3 Gene

  • GC01P063723
  • GC01P062711
  • GC01P063146
  • GC01P063158
  • GC01P063500
  • GC01P063561
  • GC01P063788
  • GC01P061896

Summaries for FOXD3 Gene

Entrez Gene Summary for FOXD3 Gene

  • 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]

GeneCards Summary for FOXD3 Gene

FOXD3 (Forkhead Box D3) is a Protein Coding gene. Diseases associated with FOXD3 include Autoimmune Disease 1 and Senile Entropion. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Oct4 in Mammalian ESC Pluripotency. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription regulatory region DNA binding. An important paralog of this gene is FOXD2.

UniProtKB/Swiss-Prot for FOXD3 Gene

  • 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 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FOXD3 Gene

Genomics for FOXD3 Gene

Regulatory Elements for FOXD3 Gene

Enhancers for FOXD3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G063522 1.2 ENCODE 10.6 +200.4 200416 2.8 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 ITGB3BP EFCAB7 DLEU2L FOXD3-AS1 FOXD3 ROR1 ALG6 LOC441887 RN7SL488P
GH01G063294 0.8 ENCODE dbSUPER 12.3 -27.9 -27867 2.0 JUND POLR2A TEAD4 MAX POU5F1 ETS1 LINC00466 FOXD3-AS1 FOXD3 LOC441887 ALG6 RPSAP65
GH01G063319 0.7 FANTOM5 2.4 -3.3 -3303 0.1 RNF2 SUZ12 CBX2 RBBP5 ZNF34 ZBTB33 EZH2 TRIM28 SP7 FOXD3 LINC00466
GH01G063321 1.3 Ensembl ENCODE 0.7 -0.2 -177 3.9 PKNOX1 FOXA2 ATF1 AGO1 SIN3A FEZF1 GLI4 ZNF2 ETS1 GLIS2 FOXD3 LINC00466
GH01G063320 0.6 ENCODE 0.7 -2.4 -2417 0.2 SUZ12 POLR2A CHD1 CBX2 ZNF384 EZH2 LINC00466 FOXD3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FOXD3 on UCSC Golden Path with GeneCards custom track

Genomic Location for FOXD3 Gene

Chromosome:
1
Start:
63,323,041 bp from pter
End:
63,325,126 bp from pter
Size:
2,086 bases
Orientation:
Plus strand

Genomic View for FOXD3 Gene

Genes around FOXD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FOXD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FOXD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FOXD3 Gene

Proteins for FOXD3 Gene

  • Protein details for FOXD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJU5-FOXD3_HUMAN
    Recommended name:
    Forkhead box protein D3
    Protein Accession:
    Q9UJU5
    Secondary Accessions:
    • Q9BYM2
    • Q9UDD1

    Protein attributes for FOXD3 Gene

    Size:
    478 amino acids
    Molecular mass:
    47630 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FOXD3 Gene

Post-translational modifications for FOXD3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FOXD3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for FOXD3 (FOXD3)

No data available for DME Specific Peptides for FOXD3 Gene

Domains & Families for FOXD3 Gene

Gene Families for FOXD3 Gene

Protein Domains for FOXD3 Gene

Suggested Antigen Peptide Sequences for FOXD3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FOXD3: view

No data available for UniProtKB/Swiss-Prot for FOXD3 Gene

Function for FOXD3 Gene

Molecular function for FOXD3 Gene

GENATLAS Biochemistry:
transcription factor-like,restrictively expressed in hematopoietic cells,with a Drosophila homeo fork head DNA binding domain,mouse hepatocyte nuclear factor 3 homolog
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for FOXD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 22306510
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding IDA 22306510
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding ISS --
GO:0005515 protein binding IPI 11891324
genes like me logo Genes that share ontologies with FOXD3: view
genes like me logo Genes that share phenotypes with FOXD3: view

Animal Models for FOXD3 Gene

MGI Knock Outs for FOXD3:

Animal Model Products

CRISPR Products

miRNA for FOXD3 Gene

miRTarBase miRNAs that target FOXD3

Transcription Factor Targets for FOXD3 Gene

Selected GeneGlobe predicted Target genes for FOXD3

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and HOMER Transcription for FOXD3 Gene

Localization for FOXD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FOXD3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FOXD3 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for FOXD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 22306510
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with FOXD3: view

Pathways & Interactions for FOXD3 Gene

genes like me logo Genes that share pathways with FOXD3: view

Gene Ontology (GO) - Biological Process for FOXD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0001701 in utero embryonic development ISS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with FOXD3: view

No data available for SIGNOR curated interactions for FOXD3 Gene

Transcripts for FOXD3 Gene

mRNA/cDNA for FOXD3 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FOXD3 Gene

Forkhead box D3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FOXD3 Gene

No ASD Table

Relevant External Links for FOXD3 Gene

GeneLoc Exon Structure for
FOXD3
ECgene alternative splicing isoforms for
FOXD3

Expression for FOXD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FOXD3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FOXD3 Gene

This gene is overexpressed in Nerve - Tibial (x20.9) and Colon - Sigmoid (x4.1).

NURSA nuclear receptor signaling pathways regulating expression of FOXD3 Gene:

FOXD3

SOURCE GeneReport for Unigene cluster for FOXD3 Gene:

Hs.546573

mRNA Expression by UniProt/SwissProt for FOXD3 Gene:

Q9UJU5-FOXD3_HUMAN
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.

Evidence on tissue expression from TISSUES for FOXD3 Gene

  • Nervous system(2.4)
  • Skin(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FOXD3 Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
Organs:
General:
  • skin
genes like me logo Genes that share expression patterns with FOXD3: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for FOXD3 Gene

Orthologs for FOXD3 Gene

This gene was present in the common ancestor of animals.

Orthologs for FOXD3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FOXD3 34 35
  • 99.37 (n)
dog
(Canis familiaris)
Mammalia FOXD3 34 35
  • 91.01 (n)
cow
(Bos Taurus)
Mammalia FOXD3 34 35
  • 89.26 (n)
rat
(Rattus norvegicus)
Mammalia Foxd3 34
  • 87.41 (n)
mouse
(Mus musculus)
Mammalia Foxd3 34 16 35
  • 85.91 (n)
lizard
(Anolis carolinensis)
Reptilia FOXD3 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia foxd3 34
  • 76.85 (n)
Str.11302 34
African clawed frog
(Xenopus laevis)
Amphibia foxd3b-A 34
zebrafish
(Danio rerio)
Actinopterygii foxd3 34 35
  • 74.98 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3286 34
fruit fly
(Drosophila melanogaster)
Insecta fd59A 36 35
  • 88 (a)
fd96Cb 36
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-130 36 35
  • 77 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2032 35
  • 29 (a)
ManyToMany
-- 35
  • 28 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.311 34
Species where no ortholog for FOXD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FOXD3 Gene

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

Paralogs for FOXD3 Gene

(8) SIMAP similar genes for FOXD3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with FOXD3: view

Variants for FOXD3 Gene

Sequence variations from dbSNP and Humsavar for FOXD3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000159787 -- 63,321,400(+) TCCTC(A/G)CCTCC nc-transcript-variant, upstream-variant-2KB
rs1000615003 -- 63,321,757(+) AGTTA(C/T)GGCTT intron-variant, nc-transcript-variant, upstream-variant-2KB
rs1001302357 -- 63,324,407(+) TAGCG(A/T)GCCAC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs1002472593 -- 63,324,033(+) GGCGA(C/G)CTGGG intron-variant, upstream-variant-2KB, reference, missense
rs1002747252 -- 63,322,347(+) TCCAG(A/C)CTGGG intron-variant, nc-transcript-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for FOXD3 Gene

Variant ID Type Subtype PubMed ID
nsv461672 CNV gain 19166990
nsv470714 CNV gain 18288195
nsv546433 CNV gain 21841781

Variation tolerance for FOXD3 Gene

Gene Damage Index Score: 4.26; 62.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FOXD3 Gene

Human Gene Mutation Database (HGMD)
FOXD3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FOXD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FOXD3 Gene

Disorders for FOXD3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for FOXD3 Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
autoimmune disease 1
  • autoimmune disease susceptibility 1
senile entropion
  • involutional entropion
vestibular nystagmus
  • nystagmus associated with disorder of the vestibular system
entropion
lymphangitis
- elite association - COSMIC cancer census association via MalaCards
Search FOXD3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FOXD3_HUMAN
  • Autoimmune disease 1 (AIS1) [MIM:607836]: An autoimmune disorder characterized by the association of vitiligo with autoimmune thyroiditis (Hashimoto thyroiditis). {ECO:0000269 PubMed:16098053}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for FOXD3

Genetic Association Database (GAD)
FOXD3
Human Genome Epidemiology (HuGE) Navigator
FOXD3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FOXD3
genes like me logo Genes that share disorders with FOXD3: view

No data available for Genatlas for FOXD3 Gene

Publications for FOXD3 Gene

  1. Drosophila forkhead homologues are expressed in a lineage-restricted manner in human hematopoietic cells. (PMID: 8499623) Hromas R. … Klemsz M. (Blood 1993) 2 3 4 64
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  3. Candidate functional promoter variant in the FOXD3 melanoblast developmental regulator gene in autosomal dominant vitiligo. (PMID: 16098053) Alkhateeb A. … Spritz R.A. (J. Invest. Dermatol. 2005) 3 4 64
  4. The embryonic stem cell transcription factors Oct-4 and FoxD3 interact to regulate endodermal-specific promoter expression. (PMID: 11891324) Guo Y. … Hromas R. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 4 64
  5. Methylomics of breast cancer: Seeking epimarkers in peripheral blood of young subjects. (PMID: 28349825) Khakpour G. … Tavakkoly-Bazzaz J. (Tumour Biol. 2017) 3 64

Products for FOXD3 Gene

Sources for FOXD3 Gene

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