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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).
Cancer-related genes Disease related genes Human disease related genes 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
8
Cytoband
q11.23
Chromosome location (bp)
54457935 - 54460892
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Acts as a transcription regulator that binds target promoter DNA and bends the DNA. Binds to the sequences 5'-AACAAT-'3 or 5'- AACAAAG-3'. Modulates transcriptional regulation via WNT3A. Inhibits Wnt signaling. Promotes degradation of activated CTNNB1. Plays a key role in the regulation of embryonic development. Required for normal development of the definitive gut endoderm. Required for normal looping of the embryonic heart tube. Plays an important role in embryonic and postnatal vascular development, including development of arteries. Plays an important role in postnatal angiogenesis, where it is functionally redundant with SOX18. Required for the generation and maintenance of fetal hematopoietic stem cells, and for fetal hematopoiesis. Probable transcriptional activator in the premeiotic germ cells....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. [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 Transcription factors Other all-alpha-helical DNA-binding domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes Disease related genes Human disease related genes Urinary system diseases Kidney diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region 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:0001525[angiogenesis] GO:0001570[vasculogenesis] GO:0001656[metanephros development] GO:0001706[endoderm formation] GO:0001714[endodermal cell fate specification] GO:0001828[inner cell mass cellular morphogenesis] GO:0001947[heart looping] GO:0003142[cardiogenic plate morphogenesis] GO:0003143[embryonic heart tube morphogenesis] GO:0003151[outflow tract morphogenesis] GO:0003308[negative regulation of Wnt signaling pathway involved in heart development] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007283[spermatogenesis] GO:0007369[gastrulation] GO:0007492[endoderm development] GO:0007493[endodermal cell fate determination] GO:0007507[heart development] GO:0008013[beta-catenin binding] GO:0009653[anatomical structure morphogenesis] GO:0010467[gene expression] GO:0010628[positive regulation of gene expression] GO:0016055[Wnt signaling pathway] GO:0021903[rostrocaudal neural tube patterning] GO:0023019[signal transduction involved in regulation of gene expression] GO:0030154[cell differentiation] GO:0030178[negative regulation of Wnt signaling pathway] GO:0030308[negative regulation of cell growth] GO:0031648[protein destabilization] GO:0035050[embryonic heart tube development] GO:0035987[endodermal cell differentiation] GO:0042074[cell migration involved in gastrulation] GO:0043565[sequence-specific DNA binding] GO:0045595[regulation of cell differentiation] GO:0045732[positive regulation of protein catabolic process] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0045995[regulation of embryonic development] GO:0048568[embryonic organ development] GO:0048617[embryonic foregut morphogenesis] GO:0048863[stem cell differentiation] GO:0048866[stem cell fate specification] GO:0050821[protein stabilization] GO:0060214[endocardium formation] GO:0060913[cardiac cell fate determination] GO:0060914[heart formation] GO:0060956[endocardial cell differentiation] GO:0061009[common bile duct development] GO:0061010[gall bladder development] GO:0061031[endodermal digestive tract morphogenesis] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0072091[regulation of stem cell proliferation] GO:0072189[ureter development] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:1903226[positive regulation of endodermal cell differentiation] GO:1990830[cellular response to leukemia inhibitory factor] GO:2000035[regulation of stem cell division] GO:2000043[regulation of cardiac cell fate specification] GO:2000738[positive regulation of stem cell differentiation]
The Human Protein Atlas project is funded
