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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 Croup and Townes-Brocks Syndrome. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is FOXD2.

UniProtKB/Swiss-Prot for FOXD1 Gene

  • Transcription factor required for formation of positional identity in the developing retina, regionalization of the optic chiasm and morphogenesis of the kidney. Can neuralize ectodermal cells directly (By similarity).

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

Genomics for FOXD1 Gene

Regulatory Elements for FOXD1 Gene

Enhancers for FOXD1 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
GH05F073320 0.5 Ensembl ENCODE 5.2 +126.6 126593 1.9 PKNOX1 TAF1 JUN MAX CEBPG ZIC2 ZNF664 FOS MAFK BHLHE40 BTF3 FOXD1 LOC105379033 GC05M073300
GH05F073215 1 FANTOM5 Ensembl ENCODE 1.9 +232.4 232363 1.3 ARID4B SIN3A GLI4 DMAP1 ZNF48 ZNF2 ZNF121 SLC30A9 GLIS2 ZNF143 ANKRA2 PTCD2 UTP15 FCHO2 TMEM174 ENSG00000272081 LINC01386 FOXD1 LOC105379032 LOC105379031
GH05F073451 0.4 ENCODE 0.8 -2.9 -2944 0.2 CTCF ZNF2 RAD21 HIC1 ZFHX2 GLIS2 PATZ1 SCRT2 ZNF143 SMC3 FOXD1 LINC01385
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around FOXD1 on UCSC Golden Path with GeneCards custom track

Promoters for FOXD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001410578 1426 3800 ATF1 SIN3A ZNF2 GLIS2 ZNF263 SP3 YY2 CBX8 SMARCA4 GLIS1

Genomic Location for FOXD1 Gene

Chromosome:
5
Start:
73,444,827 bp from pter
End:
73,448,527 bp from pter
Size:
3,701 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:

Antibody Products

  • Abcam antibodies for FOXD1
  • Santa Cruz Biotechnology (SCBT) Antibodies for FOXD1

No data available for DME Specific Peptides for FOXD1 Gene

Domains & Families for FOXD1 Gene

Gene Families for FOXD1 Gene

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

Q16676

UniProtKB/Swiss-Prot:

FOXD1_HUMAN :
  • Contains 1 fork-head DNA-binding domain.
Domain:
  • Contains 1 fork-head DNA-binding domain.
genes like me logo Genes that share domains with FOXD1: view

Function for FOXD1 Gene

Molecular function for FOXD1 Gene

GENATLAS Biochemistry:
transcription factor-like 8,with a Drosophila homeo forkhead DNA binding domain homolog,kidney expressed (involved in kidney development)
UniProtKB/Swiss-Prot Function:
Transcription factor required for formation of positional identity in the developing retina, regionalization of the optic chiasm and morphogenesis of the kidney. Can neuralize ectodermal cells directly (By similarity).

Gene Ontology (GO) - Molecular Function for FOXD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003677 DNA binding IDA 7957066
GO:0003700 transcription factor activity, sequence-specific DNA binding 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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for FOXD1 Gene COMPARTMENTS Subcellular localization image for FOXD1 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for FOXD1 Gene

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

Pathways & Interactions for FOXD1 Gene

SuperPathways for FOXD1 Gene

No Data Available

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:0006366 transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with FOXD1: view

No data available for Pathways by source and SIGNOR curated interactions for FOXD1 Gene

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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 34
  • 98.85 (n)
mouse
(Mus musculus)
Mammalia Foxd1 34 16 35
  • 81.56 (n)
rat
(Rattus norvegicus)
Mammalia Foxd1 34
  • 81.56 (n)
oppossum
(Monodelphis domestica)
Mammalia FOXD1 35
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FOXD1 35
  • 46 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia foxd1-A 34
zebrafish
(Danio rerio)
Actinopterygii FOXD1 35
  • 39 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta fd59A 36 35
  • 83 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-130 36 35
  • 77 (a)
rice
(Oryza sativa)
Liliopsida Os.18257 34
wheat
(Triticum aestivum)
Liliopsida Ta.7992 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 25 (a)
ManyToMany
CSA.2032 35
  • 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)

Paralogs for FOXD1 Gene

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

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 Sequence Context AA Info Type
rs1052207 -- 73,447,829(+) TTGAG(C/T)GAGAG reference, synonymous-codon
rs111266212 -- 73,449,728(+) AAGAG(C/T)GAAAC upstream-variant-2KB
rs114344199 -- 73,446,509(+) CAGAC(A/T)AGTGT utr-variant-3-prime
rs114980107 -- 73,448,294(+) CCCTC(C/G)CCCAC reference, synonymous-codon
rs115617083 -- 73,449,512(+) ATACA(A/C)GCACA upstream-variant-2KB

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)

Relevant External Links for FOXD1 Gene

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

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

Disorders for FOXD1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for FOXD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
croup
  • acute laryngotracheobronchitis
townes-brocks syndrome
  • townes-brocks branchiootorenal-like syndrome
- elite association - COSMIC cancer census association via MalaCards
Search FOXD1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FOXD1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (EMBO J. 1994) 2 3 4 64
  2. Smad6s regulates plasminogen activator inhibitor-1 through a protein kinase C-beta-dependent up-regulation of transforming growth factor-beta. (PMID: 15716278) Berg D.T. … Grinnell B.W. (J. Biol. Chem. 2005) 3 22 64
  3. Characterization of the human forkhead gene FREAC-4. Evidence for regulation by Wilms' tumor suppressor gene (WT-1) and p53. (PMID: 8702877) Ernstsson S. … Enerbaeck S. (J. Biol. Chem. 1996) 3 4 64
  4. 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 64
  5. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3 64

Products for FOXD1 Gene

Sources for FOXD1 Gene

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