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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] See more...
Aliases for FOXD3 Gene
Aliases for FOXD3 Gene
External Ids for FOXD3 Gene
- HGNC: 3804
- Entrez Gene: 27022
- Ensembl: ENSG00000187140
- OMIM: 611539
- UniProtKB: Q9UJU5
Previous GeneCards Identifiers for FOXD3 Gene
- GC01P063723
- GC01P062711
- GC01P063146
- GC01P063158
- GC01P063500
- GC01P063561
- GC01P063788
- GC01P061896
Summaries 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 Transcriptional regulation of pluripotent stem cells and Neural Crest Differentiation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription regulatory region DNA binding. An important paralog of this gene is FOXD1.
UniProtKB/Swiss-Prot Summary 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.
Additional gene information for FOXD3 Gene
- HGNC(3804)
- Entrez Gene(27022)
- Ensembl(ENSG00000187140)
- OMIM(611539)
- UniProtKB(Q9UJU5)
- Open Targets Platform(ENSG00000187140)
- Monarch Initiative
- Search for FOXD3 at DataMed
- Search for FOXD3 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FOXD3 Gene
Genomics for FOXD3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for FOXD3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around FOXD3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FOXD3
- Top Transcription factor binding sites by QIAGEN in the FOXD3 gene promoter:
-
- CUTL1
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
- E2F-5
- LCR-F1
- Lhx3a
- LHX3b
Genomic Locations for FOXD3 Gene
Genomic Locations for FOXD3 Gene
- chr1:63,322,567-63,325,128
- (GRCh38/hg38)
- Size:
- 2,562 bases
- Orientation:
- Plus strand
- chr1:63,788,730-63,790,797
- (GRCh37/hg19)
- Size:
- 2,068 bases
- Orientation:
- Plus strand
Genomic View for FOXD3 Gene
Genes around FOXD3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p31.3 by HGNC
- 1p31.3 by Entrez Gene
- 1p31.3 by Ensembl
FOXD3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- Q9BYM2
- Q9UDD1
Protein attributes for FOXD3 Gene
- Size:
- 478 amino acids
- Molecular mass:
- 47630 Da
- Quaternary structure:
-
- Interacts with POU5F1.
Post-translational modifications for FOXD3 Gene
Other Protein References for FOXD3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences FOXD3 Antibody (LS-B948) and FOXD3 Antibody (LS-B7060)
- G Biosciences Immunotag™ FOXD3 Antibody
-
Custom Antibody ServicesOriGene Antibodies for FOXD3
- Novus Biologicals Antibodies for FOXD3
-
Abcam antibodies for FOXD3
- Invitrogen Antibodies for FOXD3 (AFLGC-FOXD3)
-
Santa Cruz Biotechnology (SCBT) Antibodies for FOXD3
- Sino Biological Antibodies for FOXD3
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for FOXD3
- Origene Custom Protein Services for FOXD3
- antibodies-online: Show 6 available FOXD3 Proteins ranked by validation data
- Compare Top FOXD3 Proteins
-
Quality Products:
-
Abcam proteins for FOXD3
Assay Products
No data available for DME Specific Peptides for FOXD3 Gene
Domains & Families for FOXD3 Gene
Gene Families for FOXD3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
Protein Domains for FOXD3 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for FOXD3 Gene
- GenScript: Design optimal peptide antigens:
-
- HNF3/FH transcription factor genesis (FOXD3_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FOXD3 Gene
Function for FOXD3 Gene
Molecular function for FOXD3 Gene
- 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.
- 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
Phenotypes From GWAS Catalog 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:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
| GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IDA | 22306510 |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003700 | DNA-binding transcription factor activity | ISS | -- |
Phenotypes for FOXD3 Gene
- MGI mutant phenotypes for FOXD3:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for FOXD3:
-
- Increased vaccinia virus (VACV) infection
- no effect
- shRNA abundance <= 50%
- Negative genetic interaction between BLM-/- and BLM+/+
- Increased shRNA abundance (Z-score > 2)
- Decreased viability in pancreas lineage
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased shRNA abundance (Z-score < -2)
Animal Models for FOXD3 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FOXD3 - Select products 50% OFF >
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-
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-
Santa Cruz Biotechnology (SCBT) CRISPR for FOXD3
miRNA for FOXD3 Gene
- miRTarBase miRNAs that target FOXD3
Transcription Factor Targets for FOXD3 Gene
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FOXD3
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Clone Products
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- Sino Biological Human cDNA Clone for FOXD3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FOXD3
Cell Line Products
-
Horizon Cell Lines for FOXD3
No data available for Enzyme Numbers (IUBMB) and HOMER Transcription for FOXD3 Gene
Localization for FOXD3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for FOXD3 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | IDA,ISA | -- |
| GO:0005634 | nucleus | IBA | 21873635 |
| GO:0005654 | nucleoplasm | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for FOXD3 Gene
Pathways & Interactions for FOXD3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transcriptional regulation of pluripotent stem cells | ||
| 2 | Wnt / Hedgehog / Notch | ||
| 3 | Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers | ||
| 4 | Nanog in Mammalian ESC Pluripotency |
Nanog in Mammalian ESC Pluripotency
.62
|
|
| 5 | Oct4 in Mammalian ESC Pluripotency |
Oct4 in Mammalian ESC Pluripotency
-
|
|
Pathways by source for FOXD3 Gene
2 BioSystems pathways for FOXD3 Gene
3 Reactome pathways for FOXD3 Gene
1 R&D Systems pathway for FOXD3 Gene
3 Qiagen pathways for FOXD3 Gene
- Nanog in Mammalian ESC Pluripotency
- Oct4 in Mammalian ESC Pluripotency
- Transcriptional Regulatory Network in Embryonic Stem Cell
1 Cell Signaling Technology pathway for FOXD3 Gene
Interacting Proteins for FOXD3 Gene
Selected Interacting proteins:
Q9UJU5-FOXD3_HUMAN
ENSP00000360157
for FOXD3 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for FOXD3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA,ISS | -- |
| GO:0001701 | in utero embryonic development | ISS | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
| GO:0007275 | multicellular organism development | IEA | -- |
No data available for SIGNOR curated interactions for FOXD3 Gene
Transcripts for FOXD3 Gene
mRNA/cDNA for FOXD3 Gene
- 1 REFSEQ mRNAs :
- 2 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000371116 2562 nts (view in UCSC)
CRISPR Products
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FOXD3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FOXD3
-
Santa Cruz Biotechnology (SCBT) CRISPR for FOXD3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FOXD3
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Clone Products
- Applied Biological Materials (abm): Clones for FOXD3 - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for FOXD3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FOXD3
Relevant External Links for FOXD3 Gene
- GeneLoc Exon Structure for
- FOXD3
Expression for FOXD3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Neural Crest (Gastrulation Derivatives)
- Mesencephalic Neural Crest Cells Prechordal Mesenchyme
- Cranial Neural Crest Cells Cranial Neural Crest
- Rhombencephalic Neural Crest Cells Head Mesenchyme
- Neural Crest Cells Neural Plate Border
- Diencephalic Neural Crest Cells Prechordal Mesenchyme
- Neural Tube (Nervous System)
-
Epiblast (Early Embryonic Tissues)
- Epiblast Cells Epiblast
- Prechordal Plate Cells Prechordal Plate
- Intraembryonic Epiblast Cells Epiblast
- Primitive Node Cells Primitive Node
- Inner Cell Mass (Early Embryonic Tissues)
-
Head Mesenchyme (Muscoskeletal System)
- Mesencephalic Neural Crest Cells Prechordal Mesenchyme
- Rhombencephalic Neural Crest Cells Head Mesenchyme
- Diencephalic Neural Crest Cells Prechordal Mesenchyme
-
Primitive Streak (Early Embryonic Tissues)
- Prechordal Plate Cells Prechordal Plate
- Notochord Cells Notochord
- Primitive Node Cells Primitive Node
- Brain (Nervous System)
-
Neural Ectoderm (Nervous System)
- Neural Crest Cells Neural Plate Border
-
Cartilage (Muscoskeletal System)
- Notochord Cells Notochord
-
Peripheral Nervous System (Nervous System)
- Schwann Precursor Cells Peripheral Nerve Domain
- Gut Tube (Gastrointestinal Tract)
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).
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FOXD3
SOURCE GeneReport for Unigene cluster for FOXD3 Gene:
Hs.546573mRNA 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(3.1)
- Skin(3.1)
- Muscle(2.6)
- Heart(2.6)
- Kidney(2.4)
- Lung(2.3)
- Pancreas(2.1)
- Thyroid gland(2.1)
- Bone marrow(2.1)
- Liver(2.1)
- Intestine(2.1)
- Bone(2)
- Stomach(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for FOXD3 Gene
Germ Layers:
- ectoderm
Systems:
- integumentary
Regions:
General:
- skin
Primer Products
-
OriGene qPCR primer pairs for FOXD3
-
OriGene qPCR primer pairs and template standards for FOXD3
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | FOXD3 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | FOXD3 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | FOXD3 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Foxd3 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Foxd3 30 17 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | FOXD3 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | foxd3 30 |
|
||
| Str.11302 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | foxd3b-A 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | foxd3 30 31 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3286 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | fd96Cb 32 |
|
|
|
| fd59A 31 32 |
|
OneToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | unc-130 31 32 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2032 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.311 30 |
|
- Species where no ortholog for FOXD3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for FOXD3: view image
Paralogs for FOXD3 Gene
Paralogs for FOXD3 Gene
- FOXD1 5
- FOXD2 5
- FOXD4L1 5
- FOXD4L6 5
- FOXD4L5 5
- FOXD4L4 5
- FOXD4 5
- FOXD4L3 5
- FOXC2 5
- FOXC1 5
- FOXE3 5
- FOXA2 5
- FOXB1 5
- FOXI3 5
- FOXE1 5
- FOXB2 5
- FOXA1 5
- FOXL1 5
- FOXL2 5
- FOXQ1 5
- FOXK1 5
- FOXA3 5
- FOXK2 5
- FOXS1 5
- FOXJ3 5
- FOXI2 5
- FOXJ2 5
- FOXM1 5
- FOXF1 5
- FOXL3 5
- FOXJ1 5
- FOXO4 5
- FOXO3 5
- FOXO1 5
- FOXN1 5
- FOXO6 5
- FOXH1 5
- ENSG00000285708 5
- FOXP1 5
- FOXP3 5
- FOXR1 5
- FOXR2 5
- FOXO3B 5
(8) SIMAP similar genes for FOXD3 Gene using alignment to 1 proteins:
- FOXD3_HUMAN
Variants for FOXD3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FOXD3 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 775557 | Benign: not provided | 63,323,697(+) | C/T | SYNONYMOUS_VARIANT |
Gene Damage Index Score:
4.26;
62.51% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for FOXD3 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FOXD3 Gene
Disorders for FOXD3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| autoimmune disease 1 |
|
|
| senile entropion |
|
|
| vestibular nystagmus |
|
|
| charcot-marie-tooth disease, axonal, type 2e |
|
|
| waardenburg's syndrome |
|
|
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.
Additional Disease Information for FOXD3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for FOXD3 Gene
Publications for FOXD3 Gene
- 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
- The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
- Candidate functional promoter variant in the FOXD3 melanoblast developmental regulator gene in autosomal dominant vitiligo. (PMID: 16098053) Alkhateeb A … Spritz RA (The Journal of investigative dermatology 2005) 3 4
- The embryonic stem cell transcription factors Oct-4 and FoxD3 interact to regulate endodermal-specific promoter expression. (PMID: 11891324) Guo Y … Hromas R (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 4
- miR‑425‑5p promotes cell proliferation, migration and invasion by directly targeting FOXD3 in hepatocellular carcinoma cells. (PMID: 31257522) Wu H … Chen N (Molecular medicine reports 2019) 3
ExternalLinks
Products for FOXD3 Gene
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Sources for FOXD3 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
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