Free for academic non-profit institutions. Other users need a Commercial license

Aliases for FOXD4 Gene

Aliases for FOXD4 Gene

  • Forkhead Box D4 2 3 5
  • Forkhead-Related Transcription Factor 5 3 4
  • Forkhead-Related Protein FKHL9 3 4
  • Myeloid Factor-Alpha 3 4
  • FREAC-5 3 4
  • FOXD4A 3 4
  • FREAC5 3 4
  • FKHL9 3 4
  • Forkhead, Drosophila, Homolog-Like 9 3
  • Forkhead-Related Activator 5 3
  • Forkhead Box Protein D4 3

External Ids for FOXD4 Gene

Previous HGNC Symbols for FOXD4 Gene

  • FKHL9

Previous GeneCards Identifiers for FOXD4 Gene

  • GC09M000084
  • GC09M000106
  • GC09M000058

Summaries for FOXD4 Gene

Entrez Gene Summary for FOXD4 Gene

  • This gene encodes a member of the forkhead/winged helix-box (FOX) family of transcription factors. FOX transcription factors play critical roles in the regulation of multiple processes including metabolism, cell proliferation and gene expression during ontogenesis. Mutations in this gene are associated with a complex phenotype consisting of dilated cardiomyopathy, obsessive-compulsive disorders, and suicidality. [provided by RefSeq, Mar 2012]

GeneCards Summary for FOXD4 Gene

FOXD4 (Forkhead Box D4) is a Protein Coding gene. Diseases associated with FOXD4 include Obsessive-Compulsive Disorder and Dilated Cardiomyopathy. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and RNA polymerase II transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is FOXD4L3.

Gene Wiki entry for FOXD4 Gene

Additional gene information for FOXD4 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FOXD4 Gene

Genomics for FOXD4 Gene

GeneHancer (GH) Regulatory Elements for FOXD4 Gene

Promoters and enhancers for FOXD4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J000468 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 10 -351.5 -351482 3.1 HDGF MLX ARID4B SIN3A DMAP1 ZNF48 YY1 POLR2B GLIS2 KLF7 KANK1 RPL12P25 WASHC1 CBWD1 FOXD4 ENSG00000227155 LOC105375945
GH09J000270 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.8 -154.7 -154686 5.4 PKNOX1 ATF1 ARNT YY1 TCF12 POLR2B ZNF143 FOS ATF7 RUNX3 DOCK8 ENSG00000235880 C9orf66 CBWD1 WASHC1 FOXD4 GC09M000242
GH09J000220 Enhancer 1.1 Ensembl ENCODE dbSUPER 9 -104.8 -104761 4.8 HDAC1 TEAD4 TAL1 CEBPG BMI1 FOSL1 CTBP1 GATA3 SCRT2 FOSL2 CBWD1 ENSG00000235880 FOXD4 GC09M000225 DOCK8 C9orf66
GH09J000112 Enhancer 0.9 FANTOM5 Ensembl 7 +4.2 4166 2.8 NFIB BMI1 ZIC2 ZNF335 ZSCAN29 PRDM10 EZH2 NCOA6 L3MBTL2 RNF2 LINC01388 PIR48620 PIR36916 PIR58570 GC09P000118 GC09P000117 CBWD1 WASHC1 FOXD4 GC09M000091
GH09J000235 Enhancer 0.7 dbSUPER 7.4 -121.6 -121605 8.1 MEIS2 PKNOX1 TEAD4 BACH1 ZKSCAN1 FOSL1 ZNF316 VEZF1 FOS SMARCE1 CBWD1 DOCK8 ENSG00000235880 C9orf66 FOXD4 GC09P000245 GC09M000227 GC09M000242
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FOXD4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FOXD4 gene promoter:
  • FOXO4
  • LCR-F1
  • GATA-2
  • TBP
  • C/EBPbeta
  • Pax-3
  • STAT3
  • GATA-1

Genomic Locations for FOXD4 Gene

Genomic Locations for FOXD4 Gene
2,187 bases
Minus strand
2,184 bases
Minus strand

Genomic View for FOXD4 Gene

Genes around FOXD4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FOXD4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FOXD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FOXD4 Gene

Proteins for FOXD4 Gene

  • Protein details for FOXD4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Forkhead box protein D4
    Protein Accession:
    Secondary Accessions:
    • B2RN05
    • B9EGL7
    • Q5VVK1
    • Q8WXT6

    Protein attributes for FOXD4 Gene

    439 amino acids
    Molecular mass:
    47309 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FOXD4 Gene

Post-translational modifications for FOXD4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FOXD4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FOXD4 Gene

Domains & Families for FOXD4 Gene

Gene Families for FOXD4 Gene

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

Protein Domains for FOXD4 Gene

Suggested Antigen Peptide Sequences for FOXD4 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FOXD4: view

No data available for UniProtKB/Swiss-Prot for FOXD4 Gene

Function for FOXD4 Gene

Molecular function for FOXD4 Gene

GENATLAS Biochemistry:
transcription factor-like 9,with a Drosophila homeo forkhead DNA binding domain homolog

Phenotypes From GWAS Catalog for FOXD4 Gene

Gene Ontology (GO) - Molecular Function for FOXD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM 19274049
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity TAS 9325056
GO:0008301 DNA binding, bending ISS 7957066
GO:0043565 sequence-specific DNA binding ISS 7957066
genes like me logo Genes that share ontologies with FOXD4: view
genes like me logo Genes that share phenotypes with FOXD4: view

Animal Model Products

miRNA for FOXD4 Gene

miRTarBase miRNAs that target FOXD4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FOXD4 Gene

Localization for FOXD4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FOXD4 Gene

Subcellular locations from

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 FOXD4 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FOXD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with FOXD4: view

Pathways & Interactions for FOXD4 Gene

SuperPathways for FOXD4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FOXD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0009653 anatomical structure morphogenesis IBA --
GO:0030154 cell differentiation IBA --
genes like me logo Genes that share ontologies with FOXD4: view

No data available for Pathways by source and SIGNOR curated interactions for FOXD4 Gene

Drugs & Compounds for FOXD4 Gene

No Compound Related Data Available

Transcripts for FOXD4 Gene

mRNA/cDNA for FOXD4 Gene

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

Unigene Clusters for FOXD4 Gene

Forkhead box D4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FOXD4 Gene

No ASD Table

Relevant External Links for FOXD4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FOXD4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FOXD4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FOXD4 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x5.1).

NURSA nuclear receptor signaling pathways regulating expression of FOXD4 Gene:


SOURCE GeneReport for Unigene cluster for FOXD4 Gene:


Evidence on tissue expression from TISSUES for FOXD4 Gene

  • Heart(4.1)
genes like me logo Genes that share expression patterns with FOXD4: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FOXD4 Gene

Orthologs for FOXD4 Gene

This gene was present in the common ancestor of animals.

Orthologs for FOXD4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia -- 34
  • 96 (a)
-- 34
  • 95 (a)
FOXD4L6 33
  • 86.25 (n)
(Bos Taurus)
Mammalia FOXD4L1 33
  • 80.6 (n)
(Rattus norvegicus)
Mammalia Foxd4 33
  • 75.14 (n)
(Mus musculus)
Mammalia Foxd4 16 33
  • 68.27 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 49 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 65 (a)
(Danio rerio)
Actinopterygii foxd5 34
  • 37 (a)
fruit fly
(Drosophila melanogaster)
Insecta fd59A 34
  • 25 (a)
(Caenorhabditis elegans)
Secernentea unc-130 34
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 23 (a)
CSA.2032 34
  • 23 (a)
Species where no ortholog for FOXD4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for FOXD4 Gene

Gene Tree for FOXD4 (if available)
Gene Tree for FOXD4 (if available)
Evolutionary constrained regions (ECRs) for FOXD4: view image

Paralogs for FOXD4 Gene

(11) SIMAP similar genes for FOXD4 Gene using alignment to 3 proteins:

  • Q3MI95_HUMAN
  • Q6VB86_HUMAN
genes like me logo Genes that share paralogs with FOXD4: view

Variants for FOXD4 Gene

Sequence variations from dbSNP and Humsavar for FOXD4 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1001148465 -- 115,951(-) C/T downstream_transcript_variant
rs1002196546 -- 116,007(-) A/G downstream_transcript_variant
rs1002229110 -- 116,606(-) G/A/C 3_prime_UTR_variant
rs1003199743 -- 117,662(-) C/T coding_sequence_variant, missense_variant
rs1003232473 -- 117,826(-) A/G coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for FOXD4 Gene

Variant ID Type Subtype PubMed ID
dgv12447n54 CNV gain 21841781
dgv253e55 CNV gain 17911159
dgv254e55 CNV gain 17911159
dgv7343n100 CNV gain 25217958
dgv7344n100 CNV gain 25217958
dgv7345n100 CNV gain 25217958
dgv7346n100 CNV gain 25217958
dgv7347n100 CNV gain 25217958
dgv7348n100 CNV gain 25217958
esv2759654 CNV gain+loss 17122850
esv2764172 CNV gain+loss 21179565
esv27644 CNV gain 19812545
esv3891501 CNV gain 25118596
nsv1023234 CNV loss 25217958
nsv515505 CNV gain+loss 19592680
nsv612982 CNV gain 21841781
nsv612983 CNV gain 21841781
nsv8403 CNV gain+loss 18304495
nsv972637 CNV duplication 23825009

Variation tolerance for FOXD4 Gene

Residual Variation Intolerance Score: 92.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.90; 89.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FOXD4 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FOXD4 Gene

Disorders for FOXD4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for FOXD4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
obsessive-compulsive disorder
  • ocd
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
- elite association - COSMIC cancer census association via MalaCards
Search FOXD4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FOXD4

genes like me logo Genes that share disorders with FOXD4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FOXD4 Gene

Publications for FOXD4 Gene

  1. FOXD4a and FOXD4b, two new winged helix transcription factors, are expressed in human leukemia cell lines. (PMID: 12234674) Freyaldenhoven BS … Wielckens K (Gene 2002) 2 3 4 58
  2. 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
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Gene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14.1 and paralogous regions. (PMID: 12421752) Fan Y … Trask BJ (Genome research 2002) 3 4 58

Products for FOXD4 Gene

Sources for FOXD4 Gene

Loading form....