FOXF1 (forkhead box F1)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2294
Gene name Gene Name - the full gene name approved by the HGNC.
Forkhead box F1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FOXF1
Synonyms (NCBI Gene) Gene synonyms aliases
ACDMPV, FKHL5, FREAC1
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q24.1
Summary Summary of gene provided in NCBI Entrez 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 we
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(31)
miRTarBase ID miRNA Experiments Reference
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
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
GLI2 Activation 23034409
GLI2 Unknown 19360354
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
601089 3809 ENSG00000103241
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hypertrophic Pyloric Stenosis pyloric stenosis, infantile hypertrophic, 5 rs672601295 N/A
VACTERL ASSOCIATION vater association rs752504125 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alveolar capillary dysplasia alveolar capillary dysplasia with misalignment of pulmonary veins N/A N/A GenCC
Show/Hide Text Mining Associations (60)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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