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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] See more...
Aliases for FOXF1 Gene
Aliases for FOXF1 Gene
External Ids for FOXF1 Gene
- HGNC: 3809
- Entrez Gene: 2294
- Ensembl: ENSG00000103241
- OMIM: 601089
- UniProtKB: Q12946
Previous HGNC Symbols for FOXF1 Gene
- FKHL5
Previous GeneCards Identifiers for FOXF1 Gene
- GC16P077898
- GC16P087577
- GC16P086284
- GC16P086325
- GC16P085101
- GC16P086544
- GC16P072284
Summaries 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 FOXA2 and FOXA3 transcription factor networks and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. 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 FOXD2.
UniProtKB/Swiss-Prot Summary for FOXF1 Gene
-
Probable transcription activator for a number of lung-specific genes.
Additional gene information for FOXF1 Gene
- HGNC(3809)
- Entrez Gene(2294)
- Ensembl(ENSG00000103241)
- OMIM(601089)
- UniProtKB(Q12946)
- Open Targets Platform(ENSG00000103241)
- Monarch Initiative
- Search for FOXF1 at DataMed
- Search for FOXF1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FOXF1 Gene
Genomics for FOXF1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for FOXF1 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FOXF1
- 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
- chr16:86,510,527-86,515,422
- (GRCh38/hg38)
- Size:
- 4,896 bases
- Orientation:
- Plus strand
- chr16:86,544,133-86,548,076
- (GRCh37/hg19)
- Size:
- 3,944 bases
- Orientation:
- Plus strand
Genomic View for FOXF1 Gene
Genes around FOXF1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16q24.1 by HGNC
- 16q24.1 by Entrez Gene
- 16q24.1 by Ensembl
FOXF1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FOXF1 Gene
Proteins for FOXF1 Gene
-
Protein details for FOXF1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q12946-FOXF1_HUMAN
- Recommended name:
- Forkhead box protein F1
- Protein Accession:
- Q12946
- B2RAF4
- Q5FWE5
Protein attributes for FOXF1 Gene
- Size:
- 379 amino acids
- Molecular mass:
- 40122 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- 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; Evidence={ECO:0000305};
Protein Expression for FOXF1 Gene
Post-translational modifications for FOXF1 Gene
Other Protein References for FOXF1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-FOXF1 monoclonal antibody, clone FQS8082
- Novus Biologicals Antibodies for FOXF1
-
Abcam antibodies for FOXF1
- Invitrogen Antibodies for FOXF1 (AFLGC-Foxf1)
-
Boster Bio Antibodies for FOXF1
- Sino Biological Antibodies for FOXF1
Protein Products
-
OriGene Purified Proteins for FOXF1
- Search Origene for MassSpec and Protein Over-expression Lysates for FOXF1
- Origene Custom Protein Services for FOXF1
No data available for DME Specific Peptides for FOXF1 Gene
Domains & Families for FOXF1 Gene
Gene Families for FOXF1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
Protein Domains for FOXF1 Gene
- InterPro:
- ProtoNet:
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
Q12946UniProtKB/Swiss-Prot:
FOXF1_HUMAN :- Activation domains C-terminal of (and distinct from) the forkhead domains are necessary for transcriptional activation.
- Domain:
-
- Activation domains C-terminal of (and distinct from) the forkhead domains are necessary for transcriptional activation.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IMP | 8626802 |
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
| 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 |
Phenotypes for FOXF1 Gene
- MGI mutant phenotypes for FOXF1:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for FOXF1:
Animal Model Products
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CRISPR Products
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-
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-
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miRNA Products
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Clone Products
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- Sino Biological Human cDNA Clone for FOXF1
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Cell Line Products
- ESI BIO PureStem 7PEND24, NCr-fac & Meso-prx Progenitor and PureStem SM30, NCr-fac & Meso-latp Progenitor for FOXF1
-
Horizon Cell Lines for FOXF1
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
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| extracellular | 2 |
| cytoskeleton | 2 |
| plasma membrane | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | ISA | -- |
| GO:0005634 | nucleus | TAS,IC | 9769171 |
| GO:0005667 | transcription factor complex | TAS | 9722567 |
Pathways & Interactions for FOXF1 Gene
Pathways by source for FOXF1 Gene
1 BioSystems pathway for FOXF1 Gene
1 R&D Systems pathway for FOXF1 Gene
Interacting Proteins for FOXF1 Gene
GPS-Prot Interaction Network for FOXF1
| 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 | -- |
Transcripts for FOXF1 Gene
mRNA/cDNA for FOXF1 Gene
- 1 REFSEQ mRNAs :
- 6 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000262426 3520 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FOXF1 - Select products 50% OFF >
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-
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miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FOXF1
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Clone Products
- Applied Biological Materials (abm): Clones for FOXF1 - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for FOXF1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FOXF1
Relevant External Links for FOXF1 Gene
- GeneLoc Exon Structure for
- FOXF1
Expression for FOXF1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Mesenchymal Stem Cells (Uncategorized)
- Umbilical Cord (Extraembryonic Tissues)
-
Mesoderm (Gastrulation Derivatives)
- Splanchnic Mesoderm Cells Splanchnic Mesoderm
- Septum Transversum Mesenchyme Cells Septum Transversum
- Mesoderm Cells Mesoderm
- Gut Tube (Gastrointestinal Tract)
-
Lung (Respiratory System)
- Airway Smooth Muscle Cells Trachea
- Distal Mesodermal Progenitor Cells Lung Mesoderm
-
Endothelium (Cardiovascular System)
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
- Venous Endothelial Cells Cardinal Veins
- Placenta (Extraembryonic Tissues)
-
Liver (Hepatobiliary System)
- Fetal Hepatic Stellate Cells Sinusoids
-
Smooth Muscle (Muscoskeletal System)
- Airway Smooth Muscle Cells Trachea
-
Lateral Plate Mesoderm (Gastrulation Derivatives)
- Splanchnic Mesoderm Cells Splanchnic Mesoderm
-
Cartilage (Muscoskeletal System)
- Intervertebral Disc Annulus Fibrosus Cells Annulus Fibrosus
-
Extraembryonic Mesoderm (Extraembryonic Tissues)
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
-
Heart (Cardiovascular System)
- Venous Endothelial Cells Cardinal Veins
- Bone (Muscoskeletal System)
- Dermis (Integumentary System)
- Fibroblasts
- Neural Crest (Gastrulation Derivatives)
- Paraxial Mesoderm (Gastrulation Derivatives)
- Primitive Streak (Early Embryonic Tissues)
- Intermediate Mesoderm (Gastrulation Derivatives)
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).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FOXF1
SOURCE GeneReport for Unigene cluster for FOXF1 Gene:
Hs.155591mRNA Expression by UniProt/SwissProt for FOXF1 Gene:
Q12946-FOXF1_HUMAN
Tissue specificity:
Expressed in lung and placenta.
Evidence on tissue expression from TISSUES for FOXF1 Gene
- Lung(4.5)
- Intestine(4.5)
- Gall bladder(2.6)
- Stomach(2.3)
- Heart(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for FOXF1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- reproductive
- respiratory
- urinary
Regions:
Head and neck:
- ear
Thorax:
- esophagus
- heart
- heart valve
- lung
Abdomen:
- appendix
- biliary tract
- duodenum
- intestine
- kidney
- large intestine
- liver
- pancreas
- small intestine
- stomach
Pelvis:
- placenta
- ureter
- urinary bladder
- uterus
General:
- blood
- blood vessel
Primer Products
-
OriGene qPCR primer pairs for FOXF1
-
OriGene qPCR primer pairs and template standards for FOXF1
Gene Expression Assay Products
Orthologs for FOXF1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | FOXF1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | FOXF1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | FOXF1 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | FOXF1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | FOXF1 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Foxf1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Foxf1 30 |
|
||
| Chicken (Gallus gallus) |
Aves | FOXF1 30 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | foxf1 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.182 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | foxf1 30 31 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3557 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for FOXF1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
- ENSEMBL:
- Gene Tree for FOXF1 (if available)
- TreeFam:
- Gene Tree for FOXF1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for FOXF1: view image
Paralogs for FOXF1 Gene
Paralogs for FOXF1 Gene
- FOXD2 5
- FOXD1 5
- FOXC1 5
- FOXD4L1 5
- FOXC2 5
- FOXD4L6 5
- FOXD3 5
- FOXD4L5 5
- FOXD4L4 5
- FOXD4 5
- FOXE1 5
- FOXD4L3 5
- FOXL1 5
- FOXL2 5
- FOXS1 5
- FOXQ1 5
- FOXE3 5
- FOXA2 5
- FOXA1 5
- FOXJ3 5
- FOXB1 5
- FOXI3 5
- FOXK2 5
- FOXB2 5
- FOXK1 5
- FOXI2 5
- FOXJ2 5
- FOXN1 5
- FOXO4 5
- FOXH1 5
- FOXM1 5
- FOXO3 5
- FOXA3 5
- FOXJ1 5
- FOXO1 5
- FOXL3 5
- ENSG00000285708 5
- FOXP1 5
- FOXO6 5
- FOXP3 5
- FOXR1 5
- FOXR2 5
- FOXO3B 5
(3) SIMAP similar genes for FOXF1 Gene using alignment to 2 proteins:
- FOXF1_HUMAN
- Q6JSE1_HUMAN
Variants for FOXF1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FOXF1 Gene
| SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 666625 | Benign: not specified; not provided | 86,512,992(+) | C/T | SYNONYMOUS_VARIANT | |
| 692054 | Pathogenic: Persistent fetal circulation syndrome | 86,511,251(+) | TGCGGCGGC/T | FRAMESHIFT_VARIANT | |
| 734939 | Likely Benign: not provided | 86,511,538(+) | C/A | SYNONYMOUS_VARIANT | |
| 735914 | Benign: not provided | 86,511,320(+) | A/G | MISSENSE_VARIANT | |
| 750896 | Likely Benign: not provided | 86,510,917(+) | C/T | SYNONYMOUS_VARIANT |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FOXF1 Gene
Disorders for FOXF1 Gene
(26) MalaCards diseases for FOXF1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| alveolar capillary dysplasia with misalignment of pulmonary veins |
|
|
| persistent fetal circulation syndrome |
|
|
| idiopathic/heritable pulmonary arterial hypertension |
|
|
| pyloric stenosis |
|
|
| vacterl association |
|
|
Search FOXF1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
FOXF1_HUMAN- 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
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for FOXF1 Gene
Publications for FOXF1 Gene
- 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
- 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
- Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family. (PMID: 27145217) Reiter J … Kerem E (Pediatric pulmonology 2016) 3 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
- Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 41
ExternalLinks
Products for FOXF1 Gene
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- antibodies-online: Show 33 available FOXF1 Antibodies ranked by validation data
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Sources for FOXF1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
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