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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
7
Cytoband
p21.1
Chromosome location (bp)
19020991 - 19117636
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 transcriptional regulator. Inhibits myogenesis by sequestrating E proteins, inhibiting trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. This interaction probably involves the basic domains of both proteins. Also represses expression of pro-inflammatory cytokines such as TNFA and IL1B. Regulates cranial suture patterning and fusion. Activates transcription as a heterodimer with E proteins. Regulates gene expression differentially, depending on dimer composition. Homodimers induce expression of FGFR2 and POSTN while heterodimers repress FGFR2 and POSTN expression and induce THBS1 expression. Heterodimerization is also required for osteoblast differentiation. Represses the activity of the circadian transcriptional activator: NPAS2-BMAL1 heterodimer (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DNA E box sequences and regulate the transcription of genes involved in cranial suture closure during skull development. This protein may also regulate neural tube closure, limb development and brown fat metabolism. This gene is hypermethylated and overexpressed in multiple human cancers, and the encoded protein promotes tumor cell invasion and metastasis, as well as metastatic recurrence. Mutations in this gene cause Saethre-Chotzen syndrome in human patients, which is characterized by craniosynostosis, ptosis and hypertelorism. [provided by RefSeq, Jul 2020]...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 Basic domains Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001221[transcription coregulator binding] GO:0001503[ossification] GO:0001649[osteoblast differentiation] GO:0001701[in utero embryonic development] GO:0001764[neuron migration] GO:0001843[neural tube closure] GO:0003180[aortic valve morphogenesis] GO:0003183[mitral valve morphogenesis] GO:0003203[endocardial cushion morphogenesis] GO:0003253[cardiac neural crest cell migration 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:0006357[regulation of transcription by RNA polymerase II] GO:0007517[muscle organ development] GO:0010628[positive regulation of gene expression] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0010936[negative regulation of macrophage cytokine production] GO:0014067[negative regulation of phosphatidylinositol 3-kinase signaling] GO:0019904[protein domain specific binding] GO:0030154[cell differentiation] GO:0030326[embryonic limb morphogenesis] GO:0030335[positive regulation of cell migration] GO:0030500[regulation of bone mineralization] GO:0032000[positive regulation of fatty acid beta-oxidation] GO:0032502[developmental process] GO:0032720[negative regulation of tumor necrosis factor production] GO:0032755[positive regulation of interleukin-6 production] GO:0032760[positive regulation of tumor necrosis factor production] GO:0035067[negative regulation of histone acetylation] GO:0035115[embryonic forelimb morphogenesis] GO:0035116[embryonic hindlimb morphogenesis] GO:0035137[hindlimb morphogenesis] GO:0035359[negative regulation of peroxisome proliferator activated receptor signaling pathway] GO:0042473[outer ear morphogenesis] GO:0042476[odontogenesis] GO:0042733[embryonic digit morphogenesis] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043066[negative regulation of apoptotic process] GO:0043425[bHLH transcription factor binding] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0043518[negative regulation of DNA damage response, signal transduction by p53 class mediator] GO:0044092[negative regulation of molecular function] GO:0045596[negative regulation of cell differentiation] GO:0045668[negative regulation of osteoblast differentiation] GO:0045766[positive regulation of angiogenesis] GO:0045843[negative regulation of striated muscle tissue development] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046983[protein dimerization activity] GO:0048511[rhythmic process] GO:0048642[negative regulation of skeletal muscle tissue development] GO:0048701[embryonic cranial skeleton morphogenesis] GO:0048704[embryonic skeletal system morphogenesis] GO:0048863[stem cell differentiation] GO:0050679[positive regulation of epithelial cell proliferation] GO:0060021[roof of mouth development] GO:0060348[bone development] GO:0060363[cranial suture morphogenesis] GO:0060900[embryonic camera-type eye formation] GO:0061029[eyelid development in camera-type eye] GO:0061309[cardiac neural crest cell development involved in outflow tract morphogenesis] GO:0070888[E-box binding] GO:0071363[cellular response to growth factor stimulus] GO:0071456[cellular response to hypoxia] GO:0071639[positive regulation of monocyte chemotactic protein-1 production] GO:0140297[DNA-binding transcription factor binding] GO:2000144[positive regulation of DNA-templated transcription initiation] GO:2000147[positive regulation of cell motility] GO:2000276[negative regulation of oxidative phosphorylation uncoupler activity] GO:2000679[positive regulation of transcription regulatory region DNA binding] GO:2000773[negative regulation of cellular senescence] GO:2000780[negative regulation of double-strand break repair] GO:2000793[cell proliferation involved in heart valve development] GO:2000802[positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation]
The Human Protein Atlas project is funded
