Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	2294
Gene name	Forkhead box F1
Gene symbol	FOXF1
Synonyms (NCBI Gene)	ACDMPVFKHL5FREAC1
Chromosome	16
Chromosome location	16q24.1
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 we

Show/Hide all (17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909337	T>C	Pathogenic	Terminator codon variant, stop lost
rs397854726	TTT>-,T,TT,TTTT,TTTTTT,TTTTTTTTT,TTTTTTTTTTTT	Conflicting-interpretations-of-pathogenicity, benign	3 prime UTR variant
rs672601295	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs752504125	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796420	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1481006723	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1567511932	A>C	Likely-pathogenic	Stop lost, terminator codon variant
rs1597291300	C>A	Pathogenic	Coding sequence variant, missense variant
rs1597291318	T>C	Pathogenic	Coding sequence variant, missense variant
rs1597291380	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1597291554	GCGGCGGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597291710	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597291719	C>T	Pathogenic	Coding sequence variant, stop gained
rs1597291722	CCCCCTGT>-	Pathogenic	Coding sequence variant, stop gained
rs1597291767	->TGTCC	Pathogenic	Coding sequence variant, frameshift variant
rs1597292524	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597292620	G>C	Pathogenic	Stop lost, terminator codon variant

Show/Hide all (31)

miRTarBase ID	miRNA	Experiments
MIRT1001640	hsa-miR-3671	CLIP-seq
MIRT1001641	hsa-miR-3941	CLIP-seq
MIRT1001642	hsa-miR-466	CLIP-seq
MIRT1001643	hsa-miR-4672	CLIP-seq
MIRT1001644	hsa-miR-607	CLIP-seq
MIRT1996809	hsa-miR-4685-5p	CLIP-seq
MIRT1996810	hsa-miR-578	CLIP-seq
MIRT1996811	hsa-miR-581	CLIP-seq
MIRT1996809	hsa-miR-4685-5p	CLIP-seq
MIRT1996810	hsa-miR-578	CLIP-seq
MIRT1996811	hsa-miR-581	CLIP-seq
MIRT2429001	hsa-miR-105	CLIP-seq
MIRT2429002	hsa-miR-1251	CLIP-seq
MIRT2429003	hsa-miR-15a	CLIP-seq
MIRT2429004	hsa-miR-15b	CLIP-seq
MIRT2429005	hsa-miR-16	CLIP-seq
MIRT2429006	hsa-miR-195	CLIP-seq
MIRT2429007	hsa-miR-2052	CLIP-seq
MIRT2429008	hsa-miR-3153	CLIP-seq
MIRT2429009	hsa-miR-3162-5p	CLIP-seq
MIRT2429010	hsa-miR-424	CLIP-seq
MIRT2429011	hsa-miR-4524	CLIP-seq
MIRT2429012	hsa-miR-4719	CLIP-seq
MIRT2429013	hsa-miR-4793-3p	CLIP-seq
MIRT2429014	hsa-miR-497	CLIP-seq
MIRT2429015	hsa-miR-503	CLIP-seq
MIRT2429016	hsa-miR-553	CLIP-seq
MIRT2429017	hsa-miR-646	CLIP-seq
MIRT2429018	hsa-miR-765	CLIP-seq
MIRT2437305	hsa-miR-375	CLIP-seq
MIRT2437306	hsa-miR-382	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
GLI2	Activation	23034409
GLI2	Unknown	19360354

Show/Hide all (75)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IMP	8626802
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	8626802
GO:0001568	Process	Blood vessel development	IMP	19500772
GO:0001570	Process	Vasculogenesis	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001701	Process	In utero embryonic development	IMP	19500772
GO:0001756	Process	Somitogenesis	IEA
GO:0001763	Process	Morphogenesis of a branching structure	IMP	19500772
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	IEA
GO:0003197	Process	Endocardial cushion development	IMP	19500772
GO:0003214	Process	Cardiac left ventricle morphogenesis	IMP	19500772
GO:0003677	Function	DNA binding	IDA	9769171
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IC	9769171
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9722567
GO:0005667	Component	Transcription regulator complex	TAS	9722567
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007494	Process	Midgut development	IMP	19500772
GO:0007498	Process	Mesoderm development	IEA
GO:0007507	Process	Heart development	IMP	19500772
GO:0009887	Process	Animal organ morphogenesis	IBA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0010811	Process	Positive regulation of cell-substrate adhesion	IEA
GO:0014822	Process	Detection of wounding	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030323	Process	Respiratory tube development	IMP	19500772
GO:0030324	Process	Lung development	IEA
GO:0030324	Process	Lung development	IMP	19500772
GO:0030335	Process	Positive regulation of cell migration	IEA
GO:0031016	Process	Pancreas development	IMP	19500772
GO:0043305	Process	Negative regulation of mast cell degranulation	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	ISS	7957066
GO:0045198	Process	Establishment of epithelial cell apical/basal polarity	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	8626802, 9769171
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	8626802
GO:0048286	Process	Lung alveolus development	IEA
GO:0048333	Process	Mesodermal cell differentiation	IEA
GO:0048371	Process	Lateral mesodermal cell differentiation	IEA
GO:0048557	Process	Embryonic digestive tract morphogenesis	IMP	19500772
GO:0048565	Process	Digestive tract development	IMP	19500772
GO:0048566	Process	Embryonic digestive tract development	IEA
GO:0048613	Process	Embryonic ectodermal digestive tract morphogenesis	IMP	19500772
GO:0048617	Process	Embryonic foregut morphogenesis	IEA
GO:0048731	Process	System development	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0051145	Process	Smooth muscle cell differentiation	IEA
GO:0060425	Process	Lung morphogenesis	IEA
GO:0060426	Process	Lung vasculature development	IMP	19500772
GO:0060438	Process	Trachea development	IEA
GO:0060438	Process	Trachea development	IMP	19500772
GO:0060441	Process	Epithelial tube branching involved in lung morphogenesis	IEA
GO:0060461	Process	Right lung morphogenesis	IEA
GO:0060463	Process	Lung lobe morphogenesis	IEA
GO:0060841	Process	Venous blood vessel development	IMP	19500772
GO:0061030	Process	Epithelial cell differentiation involved in mammary gland alveolus development	IEA
GO:0071345	Process	Cellular response to cytokine stimulus	IEA
GO:0072189	Process	Ureter development	IMP	19500772
GO:0090131	Process	Mesenchyme migration	IEA
GO:0097070	Process	Ductus arteriosus closure	IMP	19500772
GO:0098609	Process	Cell-cell adhesion	IEA

MIM	HGNC	e!Ensembl
601089	3809	ENSG00000103241

Q12946

Protein name

Forkhead box protein F1 (Forkhead-related activator 1) (FREAC-1) (Forkhead-related protein FKHL5) (Forkhead-related transcription factor 1)

Protein function

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00250	Forkhead	47 → 133	Forkhead domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in lung and placenta. {ECO:0000269|PubMed:7957066}.

Sequence

MSSAPEKQQPPHGGGGGGGGGGGAAMDPASSGPSKAKKTNAGIRRPEKPPYSYIALIVMA
IQSSPTKRLTLSEIYQFLQSRFPFFRGSYQGWKNSVRHNLSLNECFIKLPKGLGRPGKGH
YWTIDPASEFMFEEGSFRRRPRGFRRKCQALKPMYSMMNGLGFNHLPDTYGFQGSAGGLS
CPPNSLALEGGLGMMNGHLPGNVDGMALPSHSVPHLPSNGGHSYMGGCGGAAAGEYPHHD
SSVPASPLLPTGAGGVMEPHAVYSGSAAAWPPSASAALNSGASYIKQQPLSPCNPAANPL
SGSLSTHSLEQPYLHQNSHNAPAELQGIPRYHSQSPSMCDRKEFVFSFNAMASSSMHSAG
GGSYYHQQVTYQDIKPCVM

Sequence length

379

Interactions

View interactions

102

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Alveolar capillary dysplasia with pulmonary venous misalignment	Pathogenic; Likely pathogenic	rs1393788111, rs2143184846, rs2143184507, rs2143186831, rs2143187004, rs2143187074, rs121909336, rs121909337, rs2143186824, rs2507451617, rs2471967457, rs2507454270, rs1030195503, rs2507450474, rs2507450358 View all (29 more)	RCV001331935 RCV001731125 RCV001733841 RCV001733881 RCV001783307 RCV005930170 RCV000008983 RCV000008984 RCV000008985 RCV003143289 RCV003225611 RCV003233461 RCV003335916 RCV003335952 RCV003335980 RCV005250309 RCV004555181 RCV004566540 RCV004566641 RCV001198324 RCV000678975 RCV000853342 RCV000984334 RCV000984345 RCV000984333 RCV000984337 RCV000984339 RCV000984341 RCV000984343 RCV000984340 RCV000984344 RCV000984342 RCV000984335 RCV000984336 RCV000984332 RCV000984338 RCV001007918 RCV001199825 RCV001199826 RCV001172234 RCV001172235 RCV001251453 RCV001251452 RCV001251454 RCV001291933 RCV001291932
Atresia of urethra	Likely pathogenic	rs1057518868	RCV000415110
Fetal megacystis	Likely pathogenic	rs1057518868	RCV000415110
FOXF1-related disorder	Pathogenic	rs751560567	RCV003392971
Pyloric stenosis, infantile hypertrophic, 5	Likely pathogenic	rs672601295	RCV000119307
See cases	Likely pathogenic; Pathogenic	rs1597291235, rs2507450479	RCV002287646 RCV004584503
VATER association	Likely pathogenic	rs752504125	RCV000201858
Ventricular septal defect	Likely pathogenic	rs1057518868	RCV000415110

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Ovarian serous cystadenocarcinoma	-	rs75593355	RCV006109070

Show/Hide Text Mining Associations (60)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Coronary Syndrome	Associate	34208452
Adenocarcinoma	Associate	24121790, 26383589, 28398355
Adenocarcinoma of Lung	Associate	33979320
Alveolar capillary dysplasia	Associate	19500772, 21315191, 23505205, 26462560, 32036090, 32169823, 32600276, 33832123, 34325731, 37586735, 37865798
Annular pancreas	Associate	37635636
Atherosclerosis	Associate	32271448, 33008472
Barrett Esophagus	Associate	22961001, 24121790, 25447851, 26383589
Barrett Esophagus	Stimulate	33495575
Bone Malalignment	Associate	33832123
Breast Neoplasms	Associate	20587515, 21964066, 33742056, 34215221
Breast Neoplasms	Inhibit	23103611
Capillary Malformation Arteriovenous Malformation	Associate	19500772
Carcinogenesis	Associate	23103611, 33627785
Carcinoma Ductal	Inhibit	20587515
Carcinoma Non Small Cell Lung	Associate	27577075
Carcinoma Pancreatic Ductal	Associate	34257615
Cholangiocarcinoma	Associate	34257615
Colonic Neoplasms	Associate	23103611
Colorectal Neoplasms	Associate	23103611, 24485021, 28404937, 35468741, 37847578
Congenital Abnormalities	Associate	19500772
Corneal dystrophy Avellino type	Associate	21315191, 23034409, 25105258, 26462560, 32169823
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	31686214
Developmental Disabilities	Associate	21315191
Esophageal Squamous Cell Carcinoma	Associate	33495575
Fibrocartilaginous embolism	Associate	26735178, 29941029
Gastrointestinal Diseases	Associate	19500772
Genetic Diseases Inborn	Associate	29198536
Heart Diseases	Associate	27071622
Hemangioma capillary infantile	Associate	35992538
Hydronephrosis	Associate	36980834
Hypertension Pulmonary	Associate	28332379, 31686214, 33832123, 37567389, 39542781
Hypoplastic Left Heart Syndrome	Associate	19500772, 27071622
Infant Newborn Diseases	Associate	30084155, 31686214, 35902696
Lung Diseases	Associate	23034409, 23943206, 26462560, 33739555, 35533956, 37463497
Lung Diseases Interstitial	Associate	25105258, 29569581
Lung Neoplasms	Inhibit	27577075
Lymphatic Metastasis	Associate	23103611
Mouth Diseases	Associate	21641374
Mullerian aplasia	Associate	34311961
Neoplasm Metastasis	Associate	23103611, 27577075
Neoplasms	Inhibit	20587515, 21964066, 24121790
Neoplasms	Associate	23103611, 33495575
Nonsyndromic Holoprosencephaly	Associate	35533956
Obesity	Associate	22961001
Ovarian Neoplasms	Associate	34215221
Persistent Fetal Circulation Syndrome	Associate	19500772, 21315191, 22990143, 23034409, 23505205, 23943206, 24842713, 25105258, 26462560, 26703872, 27071622, 27822317, 28332379, 29198536, 30084155 View all (15 more)
Pulmonary Arterial Hypertension	Associate	35902696
Pulmonary Veno Occlusive Disease	Associate	26462560
Renal cell carcinoma 1	Associate	21964066
Respiratory Distress Syndrome	Associate	28332379, 33832123
Rhabdomyosarcoma	Associate	33627785
Stenosis Pulmonary Vein	Associate	32036090, 33832123
Stomach Neoplasms	Associate	28398355, 28404937, 34319035
Surfactant Metabolism Dysfunction Pulmonary 1	Associate	25105258
Tetralogy of Fallot	Associate	35533956
Tuberculosis Extrapulmonary	Associate	26703872
Urogenital Abnormalities	Associate	35533956
VACTERL association	Associate	21315191, 34338422
VATER association	Associate	34338422
Volvulus Of Midgut	Associate	19500772, 30632303

FOXF1 (forkhead box F1)