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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 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
2
Cytoband
p25.2
Chromosome location (bp)
5692384 - 5701385
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcription factor that acts as a transcriptional activator 1,2. Binds cooperatively with POU3F2/BRN2 or POU3F1/OCT6 to gene promoters, which enhances transcriptional activation (By similarity). Acts as a transcriptional activator of TEAD2 by binding to its gene promoter and first intron (By similarity). Plays a redundant role with SOX4 and SOX12 in cell survival of developing tissues such as the neural tube, branchial arches and somites, thereby contributing to organogenesis (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, Developmental protein, DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
This intronless 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. The protein may function in the developing nervous system and play a role in tumorigenesis. [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 Disease related genes Human disease related genes Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] 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:0000987[cis-regulatory region sequence-specific DNA binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001501[skeletal system development] GO:0001822[kidney development] GO:0001841[neural tube formation] GO:0002089[lens morphogenesis in camera-type eye] GO:0003151[outflow tract morphogenesis] GO:0003211[cardiac ventricle formation] GO:0003357[noradrenergic neuron differentiation] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005886[plasma membrane] GO:0006355[regulation of DNA-templated transcription] GO:0007399[nervous system development] GO:0008283[cell population proliferation] GO:0008284[positive regulation of cell population proliferation] GO:0009653[anatomical structure morphogenesis] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0014003[oligodendrocyte development] GO:0014009[glial cell proliferation] GO:0014032[neural crest cell development] GO:0017015[regulation of transforming growth factor beta receptor signaling pathway] GO:0021510[spinal cord development] GO:0021782[glial cell development] GO:0030154[cell differentiation] GO:0030182[neuron differentiation] GO:0030513[positive regulation of BMP signaling pathway] GO:0035332[positive regulation of hippo signaling] GO:0035914[skeletal muscle cell differentiation] GO:0045666[positive regulation of neuron differentiation] GO:0045669[positive regulation of osteoblast differentiation] GO:0045778[positive regulation of ossification] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046887[positive regulation of hormone secretion] GO:0048485[sympathetic nervous system development] GO:0048557[embryonic digestive tract morphogenesis] GO:0048704[embryonic skeletal system morphogenesis] GO:0050672[negative regulation of lymphocyte proliferation] GO:0050769[positive regulation of neurogenesis] GO:0060022[hard palate development] GO:0060023[soft palate development] GO:0060174[limb bud formation] GO:0060253[negative regulation of glial cell proliferation] GO:0060412[ventricular septum morphogenesis] GO:0060425[lung morphogenesis] GO:0060548[negative regulation of cell death] GO:0060563[neuroepithelial cell differentiation] GO:0061029[eyelid development in camera-type eye] GO:0061053[somite development] GO:0061303[cornea development in camera-type eye] GO:0061386[closure of optic fissure] GO:2000648[positive regulation of stem cell proliferation] GO:2000678[negative regulation of transcription regulatory region DNA binding] GO:2001111[positive regulation of lens epithelial cell proliferation]
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