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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FOXF1 Gene

protein-coding   GIFtS: 59
GCID: GC16P086544

forkhead box F1


(Previous symbol: FKHL5)
 Explore 11 diseases affiliated with
FOXF1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FOXF1    

Aliases
for FOXF1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Forkhead Box F11 2     Forkhead-Related Transcription Factor 12 3
FKHL51 2 3 5     FREAC-12 3
FREAC11 2 3     ACDMPV2 5
Forkhead-Related Activator 12 3     Forkhead Box Protein F12
Forkhead-Related Protein FKHL52 3     Forkhead, Drosophila, Homolog-Like 52

External Ids:    HGNC: 38091   Entrez Gene: 22942   Ensembl: ENSG000001032417   OMIM: 6010895   UniProtKB: Q129463   

Export aliases for FOXF1 gene to outside databases

Previous GC identifers: GC16P077898 GC16P087577 GC16P086284 GC16P086325 GC16P085101 GC16P072284


Summaries
for FOXF1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for FOXF1:
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)

UniProtKB/Swiss-Prot: FOXF1_HUMAN, Q12946
Function: Probable transcription activator for a number of lung-specific genes

Gene Wiki entry for FOXF1


Genomic Views
for FOXF1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FOXF1 gene promoter:
         E2F   p53   FOXO4   STAT3   MyoD   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FOXF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for FOXF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FOXF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q24   Ensembl cytogenetic band:  16q24.1   HGNC cytogenetic band: 16q24

FOXF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FOXF1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P086544:  view genomic region     (about GC identifiers)

Start:
 86,544,133 bp from pter      End:
 86,548,076 bp from pter
Size:
 3,944 bases      Orientation:
 plus strand

Proteins
for FOXF1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: FOXF1_HUMAN, Q12946 (See protein sequence)
Recommended Name: Forkhead box protein F1  
Size: 379 amino acids; 40122 Da
Subcellular location: Nucleus (Probable)
Developmental stage: Expressed in fetal lung
Caution: It is uncertain whether Met-1 or Met-26 is the initiator
Sequence caution: Sequence=AAC50399.1; Type=Erroneous initiation; Sequence=AAC61576.1; Type=Erroneous initiation;
Sequence=AAH89442.1; Type=Erroneous initiation; Sequence=BAG36851.1; Type=Frameshift; Positions=Several;
Secondary accessions: B2RAF4 Q5FWE5

Explore the universe of human proteins at neXtProt for FOXF1: NX_Q12946

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q12946

    • FOXF1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001442.2  
    ENSEMBL proteins: 
     ENSP00000262426  

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    Uscn Proteins for FOXF1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IC9769171
    GO:0005667transcription factor complex IBA--


    FOXF1 for ontologies           About GeneDecksing



    FOXF1 Antibody Products: 
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    Protein Domains /
    Families
    for FOXF1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    FOXF1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR011991 WHTH_trsnscrt_rep_DNA-bd_dom
     IPR018122 TF_fork_head_CS
     IPR001766 TF_fork_head

    Graphical View of Domain Structure for InterPro Entry Q12946

    ProtoNet protein and cluster: Q12946

    UniProtKB/Swiss-Prot: FOXF1_HUMAN, Q12946
    Domain: Activation domains C-terminal of (and distinct from) the forkhead domains are necessary for transcriptional
    activation
    Similarity: Contains 1 fork-head DNA-binding domain


    Function
    for FOXF1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: FOXF1_HUMAN, Q12946
    Function: Probable transcription activator for a number of lung-specific genes

         Genatlas biochemistry entry for FOXF1:
    transcription factor-like 5,with a Drosophila homeo fork head DNA binding domain homolog,containing a CGG repeat in
    5'utr

    miRNA
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    hsa-miR-2052 hsa-miR-4291 hsa-miR-607 hsa-miR-429 hsa-miR-106a hsa-miR-875-5p hsa-miR-374c hsa-miR-3161
    SwitchGear 3'UTR luciferase reporter plasmid: FOXF1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FOXF1 (see all 4)
    OriGene shRNA RFP: FOXF1
    OriGene siRNA: FOXF1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FOXF1

    Gene Editing
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    Clone
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    LifeMap BioReagents: cell lines associated with FOXF1: PureStem 7PEND24, NCr-fac & Meso-prx Progenitor,
    PureStem SM30, NCr-fac & Meso-latp Progenitor

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOXF1

    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA9769171
    GO:0003690double-stranded DNA binding IBA--
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IBA--
    GO:0008134transcription factor binding IBA--
    GO:0008301DNA binding, bending IBA--


    FOXF1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for FOXF1:
     Decreased circadian period len 

    Animal Models:
         Mouse knock-out Foxf1tm1Pca for FOXF1
         5 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Foxf1):
     cardiovascular system  digestive/alimentary  embryogenesis  mortality/aging  respiratory system 

    FOXF1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for FOXF1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Selected targets of C/EBPbeta
    		Selected targets of C/EBPbeta1.00
    2FOXA2 and FOXA3 transcription factor networks
    		FOXA2 and FOXA3 transcription factor networks1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for FOXF1
        Selected targets of C/EBPbeta


    1 BioSystems Pathway for FOXF1 
        FOXA2 and FOXA3 transcription factor networks



    FOXF1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FOXF1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for FOXF1 (ENSP000002624264) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NKX2-1ENSP000003468794STRING: ENSP00000346879
    About this table

    Gene Ontology (GO): 5/55 biological process terms (GO ID links to tree view) (see all 55):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001568blood vessel development IMP19500772
    GO:0001570vasculogenesis IEA--
    GO:0001701in utero embryonic development IMP19500772
    GO:0001756somitogenesis IEA--


    FOXF1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for FOXF1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FOXF1
    Search CenterWatch for drugs/clinical trials and news about FOXF1 

    Transcripts
    for FOXF1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for FOXF1 gene: 
    NM_001451.2  

    Unigene Cluster for FOXF1:

    Forkhead box F1
    Hs.155591  [show with all ESTs]
    Unigene Representative Sequence: NM_001451
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000262426(uc002fjl.3)

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    8/53 QIAGEN miScript miRNA Assays for microRNAs that regulate FOXF1 (see all 53):
    hsa-miR-2052 hsa-miR-4291 hsa-miR-607 hsa-miR-429 hsa-miR-106a hsa-miR-875-5p hsa-miR-374c hsa-miR-3161
    SwitchGear 3'UTR luciferase reporter plasmid: FOXF1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FOXF1 (see all 4)
    OriGene shRNA RFP: FOXF1
    OriGene siRNA: FOXF1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FOXF1
    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FOXF1

    Additional cDNA sequence: 

    AK314167.1 BC089442.1 U13219.1 

    1 DOTS entry:

    DT.455469 

    24/39 AceView cDNA sequences (see all 39):

    CB053550 AY312577 AI659183 R21764 AA913594 AA179538 U13219 BF002866 
    AW182105 NM_001451 AI049652 CA438612 AW239043 AA907419 BQ021034 BQ072398 
    CA438971 AI991159 BF475688 AI801183 CF125661 N71125 AA902202 BG402222 

    GeneLoc Exon Structure


    Expression
    for FOXF1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FOXF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCCTCCTCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    FOXF1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/20 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 20) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    CartilageCervical Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageLumbar Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageSacral Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageThoracic Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    Head MesenchymeBranchial Arch 1Cranial Neural Crest CellsNeural Crest
    Head MesenchymeBranchial Arch 2Cranial Neural Crest CellsNeural Crest
    Head MesenchymePrechordal MesenchymeDiencephalic Neural Crest CellsNeural Crest
    Head MesenchymePrechordal MesenchymeMesencephalic Neural Crest CellsNeural Crest
    HeartCardinal VeinsVenous Endothelial CellsEndothelium
    Lateral Plate MesodermEmbryonic Capillary PlexusAngioblastsEndothelium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)Heart, Myocardium, Smooth Muscle
    PureStem™ progenitor EN27 (Embryonic Progenitor Cell)
    PureStem™ progenitor SM22 (Embryonic Progenitor Cell)
    PureStem™ progenitor W10 (Embryonic Progenitor Cell)
    PureStem™ progenitor W8 (Embryonic Progenitor Cell)
    Beating cell clusters (Spontaneous differen...)
    Mesendoderm (Derivation and sorti...)
    Podocalyxin+, CD24+, GCTM2- (Derivation and sorti...)
    Podocalyxin+, CD24+, GCTM2 (low) (Derivation and sorti...)

    See FOXF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FOXF1

    SOURCE GeneReport for Unigene cluster: Hs.155591

    UniProtKB/Swiss-Prot: FOXF1_HUMAN, Q12946
    Tissue specificity: Expressed in lung and placenta

        SABiosciences Expression via Pathway-Focused PCR Arrays including FOXF1: 
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              Angiogenic Growth Factors in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for FOXF1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for FOXF1 gene from 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves FOXF11 forkhead box F1 84.32(n)
    91.22(a)    		   395624  XM_414186.3  XP_414186.3 
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.1822 Xenopus laevis mRNA for XFD-13 protein 78.27(n)    AJ242680.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii foxf11 forkhead box F1 72.93(n)
    82.08(a)    		   566407  NM_001080186.1  NP_001073655.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta bin6
    		 biniou
    		 12(a)
    		 1 → many
    		 3L(6983722-6987544)
    worm
    (Caenorhabditis elegans)    		 Secernentea let-3816
    fkh-86
    		 LEThal family member (let-381)
    ForKHead transcription factor family member (fkh-8...
    		 21(a)
    13(a)
    		 possible ortholog
    possible ortholog
    		 I(6320361-6323993)
    II(6189551-6191373)


    ENSEMBL Gene Tree for FOXF1 (if available)
    TreeFam Gene Tree for FOXF1 (if available) 

    Paralogs
    for FOXF1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FOXF1 gene
    FOXA22  FOXD4L12  FOXF22  FOXC22  FOXB12  FOXI22  FOXE32  FOXC12  
    FOXD4L22  FOXQ12  FOXD4L32  FOXA32  FOXD12  FOXD32  FOXD4L52  FOXD4L42  
    FOXE12  FOXL12  FOXA12  FOXI12  FOXB22  FOXD4L62  FOXS12  FOXD22  
    FOXL22  FOXD42  
    5 SIMAP similar genes for FOXF1 using alignment to 2 protein entries:     FOXF1_HUMAN (see all proteins):
    FOXF2    FOXL1    FOXB1    FOXD1    FOXL2

    FOXF1 for paralogs           About GeneDecksing



    Genomic Variants
    for FOXF1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/155 NCBI SNPs in FOXF1 are shown (see all 155)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1925454151,2
    		--86542189(+) GCCCCC/GCTCTT 3 -- int1 us2k10--------
    rs769796881,2
    		--86542241(+) CAGTCG/TCTGCG 3 -- int1 us2k10--------
    rs758270891,2
    		F,--86542324(+) CGGCAC/TCACCT 3 -- us2k1 nc-transcript-variant1Minor allele frequency- T:0.03NA 120
    rs1174023721,2
    		F,--86542551(+) TCCCCC/GCTCCC 3 -- us2k11Minor allele frequency- G:0.05EA 120
    rs1129021031,2
    		C,--86542673(+) GGAACG/CTGCGC 3 -- us2k11Minor allele frequency- C:0.00CSA 1
    rs1464291821,2
    		--86542692(+) CGGGGA/CCGCGG 3 -- us2k10--------
    rs1825781351,2
    		--86542737(+) GTGGGA/GGAGGG 3 -- us2k10--------
    rs750485051,2
    		--86542773(+) TCCGAG/TCGTGG 3 -- us2k12Minor allele frequency- T:0.04CSA NA 122
    rs1490203351,2
    		--86542774(+) CCGAGC/GGTGGC 3 -- us2k10--------
    rs1877335541,2
    		--86542796(+) TGAGTC/GGGAGT 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for FOXF1 (86544133 - 86548076 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for FOXF1
         1 CNV: 72660
    Human Gene Mutation Database (HGMD): FOXF1

    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing FOXF1:
    Birth Defects
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FOXF1
    DNA2.0 Custom Variant and Variant Library Synthesis for FOXF1

    Disorders / Diseases
    for FOXF1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    FOXF1 for disorders           About GeneDecksing

    OMIM gene information: 601089   
    OMIM disorders: 265380  
    UniProtKB/Swiss-Prot: FOXF1_HUMAN, Q12946
  • Defects in FOXF1 are the cause of alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV)
    • [MIM:265380]. ACDMPV is a rare malformation due to abnormal development of the capillary vascular system in the lungs.
    Histologically, it is characterized by 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

    11 diseases for FOXF1:    About MalaCards
    alveolar capillary dysplasia with misalignment of pulmonary veins    alveolar capillary dysplasia    nonspecific interstitial pneumonia    vacterl association
    esophageal atresia    lymphedema    rhabdomyosarcoma    pneumonia
    esophagitis    lung cancer    neuronitis

    1 disease from the University of Copenhagen DISEASES database for FOXF1:
    VACTERL association
    Human Genome Epidemiology (HuGE) Navigator: FOXF1 (4 documents)

    Export disorders for FOXF1 gene to outside databases

    Publications
    for FOXF1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for FOXF1 gene, integrated from 9 sources (see all 27):
    (articles sorted by number of sources associating them with FOXF1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending. (PubMed id 7957066)1, 2, 3 Pierrou S....Carlsson P. (1994)
    2. Differential activation of lung-specific genes by two forkhead proteins, FREAC-1 and FREAC-2. (PubMed id 8626802)1, 2, 9 Hellqvist M.... Carlsson P. (1996)
    3. Genomic and genic deletions of the FOX gene cluster o n 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasi a and other malformations. (PubMed id 19500772)1, 2 Stankiewicz P....Shaw-Smith C. (2009)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. FREAC-1 contains a cell-type-specific transcriptional activation domain and is expressed in epithelial-mesenchymal interfaces. (PubMed id 9769171)1, 2 Mahlapuu M.... Carlsson P. (1998)
    6. Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12). (PubMed id 8825632)1, 3 Larsson C....Carlsson P. (1995)
    7. The human forkhead protein FREAC-2 contains two functionally redundant activation domains and interacts with TBP and TFIIB. (PubMed id 9722567)1, 9 Hellqvist M.... Carlsson P. (1998)
    8. The p53-p21WAF1 checkpoint pathway plays a protective role in preventing DNA rereplication induced by abrogation of FOXF1 function. (PubMed id 21964066)1 Lo P.K....Sukumar S. (2012)
    9. Analysis of FOXF1 and the FOX gene cluster in patient s with VACTERL association. (PubMed id 21315191)1 Agochukwu N.B....Solomon B.D. (2011)
    10. Differential expression of invasion promoting genes i n childhood rhabdomyosarcoma. (PubMed id 21271214)1 Armeanu-Ebinger S....Seitz G. (2011)

    External Searches for FOXF1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    Genome Databases showing FOXF1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2294 HGNC: 3809 AceView: FOXF1 Ensembl:ENSG00000103241 euGenes: HUgn2294
    ECgene: FOXF1 H-InvDB: FOXF1

    Other Databases showing FOXF1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing FOXF1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FOXF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FOXF1 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for FOXF1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for FOXF1 gene:
    Search GeneIP for patents involving FOXF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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