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Aliases for FOXF1 Gene

Aliases for FOXF1 Gene

  • Forkhead Box F1 2 3 5
  • Forkhead-Related Transcription Factor 1 3 4
  • Forkhead-Related Protein FKHL5 3 4
  • Forkhead-Related Activator 1 3 4
  • Forkhead Box Protein F1 3 4
  • FREAC-1 3 4
  • FREAC1 3 4
  • FKHL5 3 4
  • Forkhead, Drosophila, Homolog-Like 5 3
  • ACDMPV 3

External Ids for FOXF1 Gene

Previous HGNC Symbols for FOXF1 Gene

  • FKHL5

Previous GeneCards Identifiers for FOXF1 Gene

  • GC16P077898
  • GC16P087577
  • GC16P086284
  • GC16P086325
  • GC16P085101
  • GC16P086544
  • GC16P072284

Summaries for FOXF1 Gene

Entrez Gene Summary for FOXF1 Gene

  • This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the regulation of pulmonary genes as well as embryonic development. [provided by RefSeq, Jul 2008]

GeneCards Summary for FOXF1 Gene

FOXF1 (Forkhead Box F1) is a Protein Coding gene. Diseases associated with FOXF1 include Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins and Persistent Fetal Circulation Syndrome. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and FOXA2 and FOXA3 transcription factor networks. 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 FOXC1.

UniProtKB/Swiss-Prot for FOXF1 Gene

  • Probable transcription activator for a number of lung-specific genes.

Gene Wiki entry for FOXF1 Gene

Additional gene information for FOXF1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FOXF1 Gene

Genomics for FOXF1 Gene

GeneHancer (GH) Regulatory Elements for FOXF1 Gene

Promoters and enhancers for FOXF1 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
GH16J086491 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 617.3 -5.4 -5396 27.5 ZNF473 SP1 CC2D1A CTCF MNT MYC SP7 KLF14 PRDM1 ZNF404 FOXF1 MTHFSD LOC101928659 LINC00917 FOXC2 FENDRR ENSG00000270020 ENSG00000268473
GH16J086193 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 5.5 -312.4 -312401 10.2 NCOA3 MYC PKNOX1 RNF2 ZIC2 CTBP1 ZNF341 NFE2 ESRRA FOS ENSG00000268505 LINC01082 LINC00917 FOXF1 LOC101928582
GH16J086519 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 5.5 +9.7 9693 0.8 CTCF RELA KLF14 RAD21 GLIS2 ZNF143 REST TRIM22 ZNF561 GTF2F1 MTHFSD LINC00917 FOXC2 FOXF1 ENSG00000270020
GH16J086466 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 2.2 -42.9 -42949 2.4 ZNF692 BRCA1 CEBPB CHD2 JUN RCOR1 JUND MAX DEK EP300 MTHFSD ENSG00000270020 FOXF1 ENSG00000268473 FENDRR
GH16J086386 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 2 -120.5 -120535 7.4 CREB1 POLR2A RXRA CTBP1 SMARCC1 CEBPB SCRT2 CHD2 JUN GABPA LINC00917 FOXF1 FOXC2 LOC401864
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FOXF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FOXF1 gene promoter:
  • E2F
  • FOXO1
  • FOXO1a
  • FOXO4
  • MyoD
  • p53
  • STAT3

Genomic Locations for FOXF1 Gene

Genomic Locations for FOXF1 Gene
4,896 bases
Plus strand
3,944 bases
Plus strand

Genomic View for FOXF1 Gene

Genes around FOXF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FOXF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FOXF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FOXF1 Gene

Proteins for FOXF1 Gene

  • Protein details for FOXF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Forkhead box protein F1
    Protein Accession:
    Secondary Accessions:
    • B2RAF4
    • Q5FWE5

    Protein attributes for FOXF1 Gene

    379 amino acids
    Molecular mass:
    40122 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAC50399.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAC61576.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH89442.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAG36851.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

neXtProt entry for FOXF1 Gene

Post-translational modifications for FOXF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FOXF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FOXF1 Gene

Domains & Families for FOXF1 Gene

Gene Families for FOXF1 Gene

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

Protein Domains for FOXF1 Gene

Suggested Antigen Peptide Sequences for FOXF1 Gene

GenScript: Design optimal peptide antigens:
  • Forkhead-related transcription factor 1 (FOXF1_HUMAN)
  • Forkhead-related activator 1 (Q6JSE1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Activation domains C-terminal of (and distinct from) the forkhead domains are necessary for transcriptional activation.
  • Activation domains C-terminal of (and distinct from) the forkhead domains are necessary for transcriptional activation.
genes like me logo Genes that share domains with FOXF1: view

Function for FOXF1 Gene

Molecular function for FOXF1 Gene

UniProtKB/Swiss-Prot Function:
Probable transcription activator for a number of lung-specific genes.
GENATLAS Biochemistry:
transcription factor-like 5,with a Drosophila homeo fork head DNA binding domain homolog,containing a CGG repeat in 5'utr

Phenotypes From GWAS Catalog for FOXF1 Gene

Gene Ontology (GO) - Molecular Function for FOXF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IMP 8626802
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IMP 8626802
GO:0003677 DNA binding IEA,IDA 9769171
GO:0003700 DNA-binding transcription factor activity IEA --
genes like me logo Genes that share ontologies with FOXF1: view
genes like me logo Genes that share phenotypes with FOXF1: view

Human Phenotype Ontology for FOXF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FOXF1 Gene

MGI Knock Outs for FOXF1:

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for FOXF1 - Now 50% OFF >
  • * FOXF1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * FOXF1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for FOXF1 Gene

Localization for FOXF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FOXF1 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 FOXF1 gene
Compartment Confidence
nucleus 5
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FOXF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS,IC 9769171
GO:0005667 transcription factor complex TAS 9722567
genes like me logo Genes that share ontologies with FOXF1: view

Pathways & Interactions for FOXF1 Gene

genes like me logo Genes that share pathways with FOXF1: view

Pathways by source for FOXF1 Gene

SIGNOR curated interactions for FOXF1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for FOXF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0001568 blood vessel development IMP 19500772
GO:0001570 vasculogenesis IEA --
GO:0001701 in utero embryonic development IMP 19500772
GO:0001756 somitogenesis IEA --
genes like me logo Genes that share ontologies with FOXF1: view

Drugs & Compounds for FOXF1 Gene

No Compound Related Data Available

Transcripts for FOXF1 Gene

mRNA/cDNA for FOXF1 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(39) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for FOXF1 Gene

Forkhead box F1:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for FOXF1 - Now 50% OFF >
  • * FOXF1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * FOXF1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for FOXF1 Gene

No ASD Table

Relevant External Links for FOXF1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FOXF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FOXF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FOXF1 Gene

This gene is overexpressed in Colon - Sigmoid (x7.1), Esophagus - Muscularis (x5.8), Esophagus - Gastroesophageal Junction (x5.7), and Bladder (x5.6).

Protein differential expression in normal tissues from HIPED for FOXF1 Gene

This gene is overexpressed in Bone (39.4), Fetal gut (16.1), and Pancreatic juice (13.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FOXF1 Gene

Protein tissue co-expression partners for FOXF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of FOXF1 Gene:


SOURCE GeneReport for Unigene cluster for FOXF1 Gene:


mRNA Expression by UniProt/SwissProt for FOXF1 Gene:

Tissue specificity: Expressed in lung and placenta.

Evidence on tissue expression from TISSUES for FOXF1 Gene

  • Lung(4.5)
  • Intestine(4.4)
  • Gall bladder(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FOXF1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • reproductive
  • respiratory
  • urinary
Head and neck:
  • ear
  • esophagus
  • heart
  • heart valve
  • lung
  • appendix
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
  • placenta
  • ureter
  • urinary bladder
  • uterus
  • blood
  • blood vessel
genes like me logo Genes that share expression patterns with FOXF1: view

Orthologs for FOXF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FOXF1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FOXF1 34 35
  • 99.21 (n)
(Bos Taurus)
Mammalia FOXF1 35 34
  • 94.28 (n)
(Canis familiaris)
Mammalia FOXF1 35 34
  • 93.93 (n)
(Ornithorhynchus anatinus)
Mammalia FOXF1 35
  • 92 (a)
(Monodelphis domestica)
Mammalia FOXF1 35
  • 91 (a)
(Mus musculus)
Mammalia Foxf1 34 35 17
  • 88.92 (n)
(Rattus norvegicus)
Mammalia Foxf1 34
  • 88.74 (n)
(Gallus gallus)
Aves FOXF1 34 35
  • 84.91 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia foxf1 34
  • 74.65 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.182 34
(Danio rerio)
Actinopterygii foxf1 34 35
  • 70.9 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3557 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 28 (a)
Species where no ortholog for FOXF1 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for FOXF1 Gene

Gene Tree for FOXF1 (if available)
Gene Tree for FOXF1 (if available)
Evolutionary constrained regions (ECRs) for FOXF1: view image

Paralogs for FOXF1 Gene

(3) SIMAP similar genes for FOXF1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with FOXF1: view

Variants for FOXF1 Gene

Sequence variations from dbSNP and Humsavar for FOXF1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1057518868 likely-pathogenic, Fetal megacystis, Urethral atresia, Ventricular septal defect 86,510,849(+) A/T coding_sequence_variant, missense_variant
rs1064259 benign, Persistent fetal circulation 86,513,749(+) A/C/G 3_prime_UTR_variant
rs111967633 likely-benign, Persistent fetal circulation 86,514,297(+) G/A 3_prime_UTR_variant
rs113855345 likely-benign, Persistent fetal circulation 86,514,301(+) T/G 3_prime_UTR_variant
rs11392376 uncertain-significance, Persistent fetal circulation 86,513,395(+) /T 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for FOXF1 Gene

Variant ID Type Subtype PubMed ID
dgv498n67 CNV gain 20364138
esv29890 CNV loss 19812545
esv4262 OTHER complex 18987735
nsv1065605 CNV gain 25217958
nsv1070364 CNV deletion 25765185
nsv483044 CNV gain 15286789
nsv525024 CNV loss 19592680
nsv527579 CNV loss 19592680
nsv9468 CNV gain 18304495

Variation tolerance for FOXF1 Gene

Residual Variation Intolerance Score: 38.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.00; 36.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FOXF1 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FOXF1 Gene

Disorders for FOXF1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for FOXF1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
alveolar capillary dysplasia with misalignment of pulmonary veins
  • acdmpv
persistent fetal circulation syndrome
  • congenital alveolar capillary dysplasia with misalignment of pulmonary veins
pulmonary hypertension, primary, 1
  • pph1
alveolar capillary dysplasia
  • alveolar capillary dysplasia with misalignment of pulmonary veins
pyloric stenosis
- elite association - COSMIC cancer census association via MalaCards
Search FOXF1 in MalaCards View complete list of genes associated with diseases


  • Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]: A rare developmental disorder characterized by abnormal development of the capillary vascular system in the lungs. Histological features include failure of formation and ingrowth of alveolar capillaries, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. Affected infants present with respiratory distress and the disease is fatal within the newborn period. Additional features include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs. ACDMPV is a rare cause of persistent pulmonary hypertension of the newborn, an abnormal physiologic state caused by failure of transition of the pulmonary circulation from the high pulmonary vascular resistance of the fetus to the low pulmonary vascular resistance of the newborn. {ECO:0000269 PubMed:19500772, ECO:0000269 PubMed:23505205, ECO:0000269 PubMed:27145217}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FOXF1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FOXF1: view

No data available for Genatlas for FOXF1 Gene

Publications for FOXF1 Gene

  1. Differential activation of lung-specific genes by two forkhead proteins, FREAC-1 and FREAC-2. (PMID: 8626802) Hellqvist M … Carlsson P (The Journal of biological chemistry 1996) 3 4 23 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. Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family. (PMID: 27145217) Reiter J … Kerem E (Pediatric pulmonology 2016) 3 4 58
  4. Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. (PMID: 23505205) Sen P … Stankiewicz P (Human mutation 2013) 3 4 58
  5. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 45 58

Products for FOXF1 Gene

Sources for FOXF1 Gene

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