FOXF1 forkhead box F1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FOXF1provided by HGNC
Official Full Name: forkhead box F1provided by HGNC
Primary source: HGNC:HGNC:3809
See related: Ensembl:ENSG00000103241 MIM:601089; AllianceGenome:HGNC:3809
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FKHL5; ACDMPV; FREAC1
Summary: 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]
Expression: Biased expression in lung (RPKM 22.1), urinary bladder (RPKM 21.5) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q24.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (86510527..86515422)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (92578744..92583639)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (86544133..86549028)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Diagnostic value of FOXF1 gene promoter-methylated DNA in the plasma samples of patients with colorectal cancer.
Title: Diagnostic value of FOXF1 gene promoter-methylated DNA in the plasma samples of patients with colorectal cancer.
Rabeprazole destroyed gastric epithelial barrier function through FOXF1/STAT3-mediated ZO-1 expression.
Title: Rabeprazole destroyed gastric epithelial barrier function through FOXF1/STAT3-mediated ZO-1 expression.
High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV.
Title: High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV.
Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant.
Title: Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant.
FOXF1 Was Identified as a Novel Biomarker of Infantile Hemangioma by Weighted Coexpression Network Analysis and Differential Gene Expression Analysis.
Title: FOXF1 Was Identified as a Novel Biomarker of Infantile Hemangioma by Weighted Coexpression Network Analysis and Differential Gene Expression Analysis.
Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation.
Title: Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation.
LINC00022 acts as an oncogene in colorectal cancer progression via sponging miR-375-3p to regulate FOXF1 expression.
Title: LINC00022 acts as an oncogene in colorectal cancer progression via sponging miR-375-3p to regulate FOXF1 expression.
Genome wide DNA methylation analysis of alveolar capillary dysplasia lung tissue reveals aberrant methylation of genes involved in development including the FOXF1 locus.
Title: Genome wide DNA methylation analysis of alveolar capillary dysplasia lung tissue reveals aberrant methylation of genes involved in development including the FOXF1 locus.
Lung-specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR.
Title: Lung-specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR.
Fast detection of FOXF1 variants in patients with alveolar capillary dysplasia with misalignment of pulmonary veins using targeted sequencing.
Title: Fast detection of FOXF1 variants in patients with alveolar capillary dysplasia with misalignment of pulmonary veins using targeted sequencing.

Submit: New GeneRIF Correction See all GeneRIFs (72)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Alveolar capillary dysplasia with pulmonary venous misalignment MedGen: C2960310 OMIM: 265380 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2013-06-20) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2013-06-20) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of a candidate gene for astigmatism. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH70564 (e-PCR)
- UniSTS:82432

NoName (e-PCR)
- UniSTS:481705

STS-U13219 (e-PCR)
- UniSTS:72176

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Process	Evidence Code	Pubs
involved_in animal organ morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac left ventricle morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to cytokine stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
involved_in detection of wounding	IEA Inferred from Electronic Annotation more info
involved_in determination of left/right symmetry	IEA Inferred from Electronic Annotation more info
involved_in digestive tract development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ductus arteriosus closure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic digestive tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic ectodermal digestive tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic foregut morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in endocardial cushion development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epithelial cell differentiation involved in mammary gland alveolus development	IEA Inferred from Electronic Annotation more info
involved_in epithelial tube branching involved in lung morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in establishment of epithelial cell apical/basal polarity	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix organization	IEA Inferred from Electronic Annotation more info
involved_in heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lateral mesodermal cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in lung alveolus development	IEA Inferred from Electronic Annotation more info
involved_in lung development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lung lobe morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in lung vasculature development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mesenchyme migration	IEA Inferred from Electronic Annotation more info
involved_in midgut development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in morphogenesis of a branching structure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of mast cell degranulation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in pancreas development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell-substrate adhesion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mesenchymal cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in respiratory tube development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in right lung morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in smooth muscle cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in smoothened signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in somitogenesis	IEA Inferred from Electronic Annotation more info
involved_in trachea development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ureter development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vasculogenesis	IEA Inferred from Electronic Annotation more info
involved_in venous blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IC Inferred by Curator more info	PubMed
part_of transcription regulator complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: forkhead box protein F1

Names: FREAC-1; Forkhead, drosophila, homolog-like 5; forkhead-related activator 1; forkhead-related protein FKHL5; forkhead-related transcription factor 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.