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Aliases for FOXD1 Gene

Aliases for FOXD1 Gene

  • Forkhead Box D1 2 3 5
  • Forkhead-Related Transcription Factor 4 3 4
  • Forkhead-Related Protein FKHL8 3 4
  • FREAC-4 3 4
  • FREAC4 3 4
  • FKHL8 3 4
  • Forkhead, Drosophila, Homolog-Like 8 3
  • Forkhead-Related Activator 4 3
  • Forkhead Box Protein D1 3
  • Forkhead-Like 8 3

External Ids for FOXD1 Gene

Previous HGNC Symbols for FOXD1 Gene

  • FKHL8

Previous GeneCards Identifiers for FOXD1 Gene

  • GC05M071547
  • GC05M072975
  • GC05M072780
  • GC05M072826
  • GC05M072777
  • GC05M072743
  • GC05M067947

Summaries for FOXD1 Gene

Entrez Gene Summary for FOXD1 Gene

  • This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. Studies of the orthologous mouse protein indicate that it functions in kidney development by promoting nephron progenitor differentiation, and it also functions in the development of the retina and optic chiasm. It may also regulate inflammatory reactions and prevent autoimmunity. [provided by RefSeq, Apr 2014]

GeneCards Summary for FOXD1 Gene

FOXD1 (Forkhead Box D1) is a Protein Coding gene. Diseases associated with FOXD1 include Hemophagocytic Lymphohistiocytosis, Familial, 2. Among its related pathways are Preimplantation Embryo. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is FOXD2.

UniProtKB/Swiss-Prot for FOXD1 Gene

  • Transcription factor involved in regulation of gene expression in a variety of processes, including formation of positional identity in the developing retina, regionalization of the optic chiasm, morphogenesis of the kidney, and neuralization of ectodermal cells (By similarity). Involved in transcriptional activation of PGF and C3 genes (PubMed:27805902).

Additional gene information for FOXD1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FOXD1 Gene

Genomics for FOXD1 Gene

GeneHancer (GH) Regulatory Elements for FOXD1 Gene

Promoters and enhancers for FOXD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J073320 Enhancer 0.6 ENCODE 5.2 +126.6 126593 1.9 NANOG JUN HLF MAX EP300 ZIC2 GABPA JUND POLR2A POU5F1 BTF3 FOXD1 LINC02230 GC05M073300
GH05J073215 Enhancer 1.5 FANTOM5 Ensembl ENCODE 1.9 +232.4 232363 1.3 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 KLF13 MXD4 REST ANKRA2 TMEM174 LINC01386 TNPO1 FOXD1 ENSG00000249743 LOC105379031
GH05J073443 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 0.7 +2.3 2250 6.3 PKNOX1 ATF1 SIN3A ZNF2 YY1 GLIS2 ZNF213 ZNF202 ZNF263 SP3 FOXD1-AS1 GC05M073447 GC05M073448 ANKRA2 LINC01385 LINC01386 LINC02230 ENSG00000223497 LINC01335 LINC01333
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FOXD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FOXD1 gene promoter:
  • FOXO4
  • FOXO1a
  • FOXO1
  • ATF
  • Nkx2-5
  • Egr-3
  • FOXJ2 (long isoform)
  • FOXJ2

Genomic Locations for FOXD1 Gene

Genomic Locations for FOXD1 Gene
chr5:73,444,827-73,448,527
(GRCh38/hg38)
Size:
3,701 bases
Orientation:
Minus strand
chr5:72,740,654-72,744,352
(GRCh37/hg19)
Size:
3,699 bases
Orientation:
Minus strand

Genomic View for FOXD1 Gene

Genes around FOXD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FOXD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FOXD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FOXD1 Gene

Proteins for FOXD1 Gene

  • Protein details for FOXD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16676-FOXD1_HUMAN
    Recommended name:
    Forkhead box protein D1
    Protein Accession:
    Q16676
    Secondary Accessions:
    • Q12949

    Protein attributes for FOXD1 Gene

    Size:
    465 amino acids
    Molecular mass:
    46140 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FOXD1 Gene

Post-translational modifications for FOXD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FOXD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FOXD1 Gene

Domains & Families for FOXD1 Gene

Gene Families for FOXD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for FOXD1 Gene

Suggested Antigen Peptide Sequences for FOXD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FOXD1: view

No data available for UniProtKB/Swiss-Prot for FOXD1 Gene

Function for FOXD1 Gene

Molecular function for FOXD1 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor involved in regulation of gene expression in a variety of processes, including formation of positional identity in the developing retina, regionalization of the optic chiasm, morphogenesis of the kidney, and neuralization of ectodermal cells (By similarity). Involved in transcriptional activation of PGF and C3 genes (PubMed:27805902).
GENATLAS Biochemistry:
transcription factor-like 8,with a Drosophila homeo forkhead DNA binding domain homolog,kidney expressed (involved in kidney development)

Gene Ontology (GO) - Molecular Function for FOXD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA,ISA --
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0003677 DNA binding IDA 7957066
GO:0003700 DNA binding transcription factor activity TAS 8702877
genes like me logo Genes that share ontologies with FOXD1: view
genes like me logo Genes that share phenotypes with FOXD1: view

Animal Models for FOXD1 Gene

MGI Knock Outs for FOXD1:

Animal Model Products

miRNA for FOXD1 Gene

miRTarBase miRNAs that target FOXD1

Transcription Factor Targets for FOXD1 Gene

Selected GeneGlobe predicted Target genes for FOXD1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology and HOMER Transcription for FOXD1 Gene

Localization for FOXD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FOXD1 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 FOXD1 gene
Compartment Confidence
nucleus 5
extracellular 1

Gene Ontology (GO) - Cellular Components for FOXD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IC 7957066
genes like me logo Genes that share ontologies with FOXD1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FOXD1 Gene

Pathways & Interactions for FOXD1 Gene

SuperPathways for FOXD1 Gene

SuperPathway Contained pathways
1 Preimplantation Embryo
genes like me logo Genes that share pathways with FOXD1: view

Pathways by source for FOXD1 Gene

1 BioSystems pathway for FOXD1 Gene

Interacting Proteins for FOXD1 Gene

Gene Ontology (GO) - Biological Process for FOXD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001658 branching involved in ureteric bud morphogenesis IEA --
GO:0001822 kidney development IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA --
genes like me logo Genes that share ontologies with FOXD1: view

No data available for SIGNOR curated interactions for FOXD1 Gene

Drugs & Compounds for FOXD1 Gene

No Compound Related Data Available

Transcripts for FOXD1 Gene

mRNA/cDNA for FOXD1 Gene

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

Unigene Clusters for FOXD1 Gene

Forkhead box D1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FOXD1 Gene

No ASD Table

Relevant External Links for FOXD1 Gene

GeneLoc Exon Structure for
FOXD1
ECgene alternative splicing isoforms for
FOXD1

Expression for FOXD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FOXD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FOXD1 Gene

This gene is overexpressed in Nerve - Tibial (x9.7), Testis (x5.6), and Esophagus - Muscularis (x4.1).

Protein differential expression in normal tissues from HIPED for FOXD1 Gene

This gene is overexpressed in Esophagus (43.4) and Tonsil (25.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FOXD1 Gene



Protein tissue co-expression partners for FOXD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of FOXD1 Gene:

FOXD1

SOURCE GeneReport for Unigene cluster for FOXD1 Gene:

Hs.519385
genes like me logo Genes that share expression patterns with FOXD1: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FOXD1 Gene

Orthologs for FOXD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FOXD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FOXD1 33
  • 98.85 (n)
mouse
(Mus musculus)
Mammalia Foxd1 16 34 33
  • 81.56 (n)
rat
(Rattus norvegicus)
Mammalia Foxd1 33
  • 81.56 (n)
oppossum
(Monodelphis domestica)
Mammalia FOXD1 34
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FOXD1 34
  • 46 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia foxd1-A 33
zebrafish
(Danio rerio)
Actinopterygii FOXD1 34
  • 39 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta fd59A 34 35
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-130 34 35
  • 32 (a)
OneToMany
wheat
(Triticum aestivum)
Liliopsida Ta.7992 33
rice
(Oryza sativa)
Liliopsida Os.18257 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
ManyToMany
CSA.2032 34
  • 25 (a)
ManyToMany
Species where no ortholog for FOXD1 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)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tropical clawed frog (Silurana tropicalis)

Evolution for FOXD1 Gene

ENSEMBL:
Gene Tree for FOXD1 (if available)
TreeFam:
Gene Tree for FOXD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FOXD1: view image

Paralogs for FOXD1 Gene

(16) SIMAP similar genes for FOXD1 Gene using alignment to 2 proteins:

  • FOXD1_HUMAN
  • J3KT45_HUMAN
genes like me logo Genes that share paralogs with FOXD1: view

Variants for FOXD1 Gene

Sequence variations from dbSNP and Humsavar for FOXD1 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000924232 -- 73,449,670(-) T/A upstream_transcript_variant
rs1000932801 -- 73,448,690(-) G/A upstream_transcript_variant
rs1001482705 -- 73,449,907(-) G/A upstream_transcript_variant
rs1001658096 -- 73,446,532(-) TT/T 3_prime_UTR_variant
rs1004115094 -- 73,447,814(-) G/A coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for FOXD1 Gene

Variant ID Type Subtype PubMed ID
dgv949n67 CNV gain 20364138
dgv9877n54 CNV loss 21841781
dgv9878n54 CNV loss 21841781
esv27844 CNV loss 19812545
nsv1073895 CNV deletion 25765185
nsv1112881 CNV deletion 24896259
nsv1126721 CNV deletion 24896259
nsv1145063 CNV deletion 24896259
nsv4875 CNV deletion 18451855
nsv598643 CNV loss 21841781
nsv598645 CNV gain 21841781
nsv598650 CNV gain 21841781
nsv823101 CNV gain 20364138

Variation tolerance for FOXD1 Gene

Gene Damage Index Score: 12.24; 94.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FOXD1 Gene

Human Gene Mutation Database (HGMD)
FOXD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FOXD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FOXD1 Gene

Disorders for FOXD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FOXD1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
hemophagocytic lymphohistiocytosis, familial, 2
  • fhl2
- elite association - COSMIC cancer census association via MalaCards
Search FOXD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FOXD1

genes like me logo Genes that share disorders with FOXD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FOXD1 Gene

Publications for FOXD1 Gene

  1. Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending. (PMID: 7957066) Pierrou S … Carlsson P (The EMBO journal 1994) 2 3 4 58
  2. Association of FOXD1 variants with adverse pregnancy outcomes in mice and humans. (PMID: 27805902) Laissue P … Vaiman D (Open biology 2016) 3 4 58
  3. Smad6s regulates plasminogen activator inhibitor-1 through a protein kinase C-beta-dependent up-regulation of transforming growth factor-beta. (PMID: 15716278) Berg DT … Grinnell BW (The Journal of biological chemistry 2005) 3 22 58
  4. Characterization of the human forkhead gene FREAC-4. Evidence for regulation by Wilms' tumor suppressor gene (WT-1) and p53. (PMID: 8702877) Ernstsson S … Enerbäck S (The Journal of biological chemistry 1996) 3 4 58
  5. Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12). (PMID: 8825632) Larsson C … Carlsson P (Genomics 1995) 2 3 58

Products for FOXD1 Gene

Sources for FOXD1 Gene

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