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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 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
11
Cytoband
p15.2
Chromosome location (bp)
15966449 - 16739591
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 plays a key role in several developmental processes, including neurogenesis, chondrocytes differentiation and cartilage formation (Probable). Specifically binds the 5'-AACAAT-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis. Required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes: SOX5 and SOX6 cooperatively bind with SOX9 on active enhancers and super-enhancers associated with cartilage-specific genes, and thereby potentiate SOX9's ability to transactivate. Not involved in precartilaginous condensation, the first step in chondrogenesis, during which skeletal progenitors differentiate into prechondrocytes. Together with SOX5, required to form and maintain a pool of highly proliferating chondroblasts between epiphyses and metaphyses, to form columnar chondroblasts, delay chondrocyte prehypertrophy but promote hypertrophy, and to delay terminal differentiation of chondrocytes on contact with ossification fronts. Binds to the proximal promoter region of the myelin protein MPZ gene, and is thereby involved in the differentiation of oligodendroglia in the developing spinal tube. Binds to the gene promoter of MBP and acts as a transcriptional repressor (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]...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 Mapped to neXtProt neXtProt - Evidence at protein level
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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:0001217[DNA-binding transcription repressor activity] GO:0001502[cartilage condensation] GO:0002062[chondrocyte differentiation] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007417[central nervous system development] GO:0007420[brain development] GO:0007517[muscle organ development] GO:0021529[spinal cord oligodendrocyte cell differentiation] GO:0030154[cell differentiation] GO:0032332[positive regulation of chondrocyte differentiation] GO:0042803[protein homodimerization activity] GO:0045165[cell fate commitment] GO:0045892[negative regulation of DNA-templated transcription] GO:0051216[cartilage development] GO:0061036[positive regulation of cartilage development] GO:0071560[cellular response to transforming growth factor beta stimulus] GO:2000726[negative regulation of cardiac muscle cell differentiation] GO:2000741[positive regulation of mesenchymal stem cell differentiation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Other all-alpha-helical DNA-binding domains Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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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:0001217[DNA-binding transcription repressor activity] GO:0001502[cartilage condensation] GO:0002062[chondrocyte differentiation] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007417[central nervous system development] GO:0007420[brain development] GO:0007517[muscle organ development] GO:0021529[spinal cord oligodendrocyte cell differentiation] GO:0030154[cell differentiation] GO:0032332[positive regulation of chondrocyte differentiation] GO:0042803[protein homodimerization activity] GO:0045165[cell fate commitment] GO:0045892[negative regulation of DNA-templated transcription] GO:0051216[cartilage development] GO:0061036[positive regulation of cartilage development] GO:0071560[cellular response to transforming growth factor beta stimulus] GO:2000726[negative regulation of cardiac muscle cell differentiation] GO:2000741[positive regulation of mesenchymal stem cell differentiation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Other all-alpha-helical DNA-binding domains Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level
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:0001217[DNA-binding transcription repressor activity] GO:0001502[cartilage condensation] GO:0002062[chondrocyte differentiation] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007417[central nervous system development] GO:0007420[brain development] GO:0007517[muscle organ development] GO:0021529[spinal cord oligodendrocyte cell differentiation] GO:0030154[cell differentiation] GO:0032332[positive regulation of chondrocyte differentiation] GO:0042803[protein homodimerization activity] GO:0045165[cell fate commitment] GO:0045892[negative regulation of DNA-templated transcription] GO:0051216[cartilage development] GO:0061036[positive regulation of cartilage development] GO:0071560[cellular response to transforming growth factor beta stimulus] GO:2000726[negative regulation of cardiac muscle cell differentiation] GO:2000741[positive regulation of mesenchymal stem cell differentiation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Other all-alpha-helical DNA-binding domains Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim 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:0001217[DNA-binding transcription repressor activity] GO:0001502[cartilage condensation] GO:0002062[chondrocyte differentiation] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007417[central nervous system development] GO:0007420[brain development] GO:0007517[muscle organ development] GO:0021529[spinal cord oligodendrocyte cell differentiation] GO:0030154[cell differentiation] GO:0032332[positive regulation of chondrocyte differentiation] GO:0042803[protein homodimerization activity] GO:0045165[cell fate commitment] GO:0045892[negative regulation of DNA-templated transcription] GO:0051216[cartilage development] GO:0061036[positive regulation of cartilage development] GO:0071560[cellular response to transforming growth factor beta stimulus] GO:2000726[negative regulation of cardiac muscle cell differentiation] GO:2000741[positive regulation of mesenchymal stem cell differentiation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Other all-alpha-helical DNA-binding domains Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level
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:0001217[DNA-binding transcription repressor activity] GO:0001502[cartilage condensation] GO:0002062[chondrocyte differentiation] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007417[central nervous system development] GO:0007420[brain development] GO:0007517[muscle organ development] GO:0021529[spinal cord oligodendrocyte cell differentiation] GO:0030154[cell differentiation] GO:0032332[positive regulation of chondrocyte differentiation] GO:0042803[protein homodimerization activity] GO:0045165[cell fate commitment] GO:0045892[negative regulation of DNA-templated transcription] GO:0051216[cartilage development] GO:0061036[positive regulation of cartilage development] GO:0071560[cellular response to transforming growth factor beta stimulus] GO:2000726[negative regulation of cardiac muscle cell differentiation] GO:2000741[positive regulation of mesenchymal stem cell differentiation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Other all-alpha-helical DNA-binding domains Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level
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:0001217[DNA-binding transcription repressor activity] GO:0001502[cartilage condensation] GO:0002062[chondrocyte differentiation] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007417[central nervous system development] GO:0007420[brain development] GO:0007517[muscle organ development] GO:0021529[spinal cord oligodendrocyte cell differentiation] GO:0030154[cell differentiation] GO:0032332[positive regulation of chondrocyte differentiation] GO:0042803[protein homodimerization activity] GO:0045165[cell fate commitment] GO:0045892[negative regulation of DNA-templated transcription] GO:0051216[cartilage development] GO:0061036[positive regulation of cartilage development] GO:0071560[cellular response to transforming growth factor beta stimulus] GO:2000726[negative regulation of cardiac muscle cell differentiation] GO:2000741[positive regulation of mesenchymal stem cell differentiation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Other all-alpha-helical DNA-binding domains Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level
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:0001217[DNA-binding transcription repressor activity] GO:0001502[cartilage condensation] GO:0002062[chondrocyte differentiation] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007417[central nervous system development] GO:0007420[brain development] GO:0007517[muscle organ development] GO:0021529[spinal cord oligodendrocyte cell differentiation] GO:0030154[cell differentiation] GO:0032332[positive regulation of chondrocyte differentiation] GO:0042803[protein homodimerization activity] GO:0045165[cell fate commitment] GO:0045892[negative regulation of DNA-templated transcription] GO:0051216[cartilage development] GO:0061036[positive regulation of cartilage development] GO:0071560[cellular response to transforming growth factor beta stimulus] GO:2000726[negative regulation of cardiac muscle cell differentiation] GO:2000741[positive regulation of mesenchymal stem cell differentiation]
The Human Protein Atlas project is funded
