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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
6
Cytoband
p22.3
Chromosome location (bp)
21593751 - 21598619
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcriptional activator that binds with high affinity to the T-cell enhancer motif 5'-AACAAAG-3' motif 1. Required for IL17A-producing Vgamma2-positive gamma-delta T-cell maturation and development, via binding to regulator loci of RORC to modulate expression (By similarity). Involved in skeletal myoblast differentiation by promoting gene expression of CALD1 2....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.
Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from Entrez
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, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [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 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:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001501[skeletal system development] GO:0001841[neural tube formation] GO:0002328[pro-B cell differentiation] GO:0003183[mitral valve morphogenesis] GO:0003211[cardiac ventricle formation] GO:0003215[cardiac right ventricle morphogenesis] GO:0003289[atrial septum primum morphogenesis] GO:0003357[noradrenergic neuron differentiation] 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:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0006355[regulation of DNA-templated transcription] GO:0007507[heart development] GO:0008284[positive regulation of cell population proliferation] GO:0008285[negative regulation of cell population proliferation] GO:0009653[anatomical structure morphogenesis] GO:0010467[gene expression] GO:0014009[glial cell proliferation] GO:0021510[spinal cord development] GO:0021522[spinal cord motor neuron differentiation] GO:0021782[glial cell development] GO:0030154[cell differentiation] GO:0030217[T cell differentiation] GO:0031018[endocrine pancreas development] GO:0031397[negative regulation of protein ubiquitination] GO:0031647[regulation of protein stability] GO:0032024[positive regulation of insulin secretion] GO:0035019[somatic stem cell population maintenance] GO:0035198[miRNA binding] GO:0035910[ascending aorta morphogenesis] GO:0042593[glucose homeostasis] GO:0043065[positive regulation of apoptotic process] GO:0043516[regulation of DNA damage response, signal transduction by p53 class mediator] GO:0045588[positive regulation of gamma-delta T cell differentiation] GO:0045663[positive regulation of myoblast differentiation] GO:0045727[positive regulation of translation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048485[sympathetic nervous system development] GO:0050821[protein stabilization] GO:0060174[limb bud formation] GO:0060412[ventricular septum morphogenesis] GO:0060548[negative regulation of cell death] GO:0060563[neuroepithelial cell differentiation] GO:0060993[kidney morphogenesis] GO:0061484[hematopoietic stem cell homeostasis] GO:0071333[cellular response to glucose stimulus] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000761[positive regulation of N-terminal peptidyl-lysine acetylation]
The Human Protein Atlas project is funded
