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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Plasma proteins Transcription factors
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
6
Cytoband
p25.3
Chromosome location (bp)
1609915 - 1613897
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
DNA-binding transcriptional factor that plays a role in a broad range of cellular and developmental processes such as eye, bones, cardiovascular, kidney and skin development 1,2,3,4,5,6,7,8,9,10,11,12,13,14. Acts either as a transcriptional activator or repressor 15. Binds to the consensus binding site 5'- [G/C][A/T]AAA[T/C]AA[A/C]-3' in promoter of target genes 16,17,18,19,20,21. Upon DNA-binding, promotes DNA bending 22,23. Acts as a transcriptional coactivator 24. Stimulates Indian hedgehog (Ihh)-induced target gene expression mediated by the transcription factor GLI2, and hence regulates endochondral ossification (By similarity). Acts also as a transcriptional coregulator by increasing DNA-binding capacity of GLI2 in breast cancer cells 25. Regulates FOXO1 through binding to a conserved element, 5'-GTAAACAAA-3' in its promoter region, implicating FOXC1 as an important regulator of cell viability and resistance to oxidative stress in the eye 26. Cooperates with transcription factor FOXC2 in regulating expression of genes that maintain podocyte integrity (By similarity). Promotes cell growth inhibition by stopping the cell cycle in the G1 phase through TGFB1-mediated signals 27. Involved in epithelial-mesenchymal transition (EMT) induction by increasing cell proliferation, migration and invasion 28,29. Involved in chemokine CXCL12-induced endothelial cell migration through the control of CXCR4 expression (By similarity). Plays a role in the gene regulatory network essential for epidermal keratinocyte terminal differentiation 30. Essential developmental transcriptional factor required for mesoderm-derived tissues, such as the somites, skin, bone and cartilage. Positively regulates CXCL12 and stem cell factor expression in bone marrow mesenchymal progenitor cells, and hence plays a role in the development and maintenance of mesenchymal niches for haematopoietic stem and progenitor cells (HSPC). Plays a role in corneal transparency by preventing both blood vessel and lymphatic vessel growth during embryonic development in a VEGF-dependent manner. Involved in chemokine CXCL12-induced endothelial cell migration through the control of CXCR4 expression (By similarity). May function as a tumor suppressor 31....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development. Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Helix-turn-helix domains Disease related genes Human disease related genes Congenital malformations Congenital malformations of eye Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000792[heterochromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001501[skeletal system development] GO:0001503[ossification] GO:0001525[angiogenesis] GO:0001541[ovarian follicle development] GO:0001568[blood vessel development] GO:0001654[eye development] GO:0001657[ureteric bud development] GO:0001701[in utero embryonic development] GO:0001756[somitogenesis] GO:0001822[kidney development] GO:0001945[lymph vessel development] GO:0001958[endochondral ossification] GO:0001974[blood vessel remodeling] GO:0003007[heart morphogenesis] GO:0003275[apoptotic process involved in outflow tract morphogenesis] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007219[Notch signaling pathway] GO:0007420[brain development] GO:0007507[heart development] GO:0008283[cell population proliferation] GO:0008301[DNA binding, bending] GO:0008354[germ cell migration] GO:0009653[anatomical structure morphogenesis] GO:0010628[positive regulation of gene expression] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0014031[mesenchymal cell development] GO:0014032[neural crest cell development] GO:0016477[cell migration] GO:0016525[negative regulation of angiogenesis] GO:0021549[cerebellum development] GO:0030154[cell differentiation] GO:0030199[collagen fibril organization] GO:0030203[glycosaminoglycan metabolic process] GO:0032808[lacrimal gland development] GO:0035050[embryonic heart tube development] GO:0036438[maintenance of lens transparency] GO:0038084[vascular endothelial growth factor signaling pathway] GO:0042475[odontogenesis of dentin-containing tooth] GO:0043010[camera-type eye development] GO:0043388[positive regulation of DNA binding] GO:0043565[sequence-specific DNA binding] GO:0045618[positive regulation of keratinocyte differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045930[negative regulation of mitotic cell cycle] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046620[regulation of organ growth] GO:0048010[vascular endothelial growth factor receptor signaling pathway] GO:0048341[paraxial mesoderm formation] GO:0048513[animal organ development] GO:0048762[mesenchymal cell differentiation] GO:0048844[artery morphogenesis] GO:0055010[ventricular cardiac muscle tissue morphogenesis] GO:0060038[cardiac muscle cell proliferation] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070098[chemokine-mediated signaling pathway] GO:0071364[cellular response to epidermal growth factor stimulus] GO:0072010[glomerular epithelium development] GO:0097746[blood vessel diameter maintenance] GO:0140297[DNA-binding transcription factor binding] GO:1901491[negative regulation of lymphangiogenesis] GO:1901534[positive regulation of hematopoietic progenitor cell differentiation] GO:1902038[positive regulation of hematopoietic stem cell differentiation] GO:1902257[negative regulation of apoptotic process involved in outflow tract morphogenesis] GO:1904798[positive regulation of core promoter binding] GO:1990841[promoter-specific chromatin binding] GO:1990869[cellular response to chemokine]