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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
8
Cytoband
q11.21
Chromosome location (bp)
48917598 - 48921740
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcriptional repressor that modulates both activator-dependent and basal transcription. Involved in the generation and migration of neural crest cells. Plays a role in mediating RAF1-induced transcriptional repression of the TJ protein, occludin (OCLN) and subsequent oncogenic transformation of epithelial cells (By similarity). Represses BRCA2 expression by binding to its E2-box-containing silencer and recruiting CTBP1 and HDAC1 in breast cells. In epidermal keratinocytes, binds to the E-box in ITGA3 promoter and represses its transcription. Involved in the regulation of ITGB1 and ITGB4 expression and cell adhesion and proliferation in epidermal keratinocytes. Binds to E-box2 domain of BSG and activates its expression during TGFB1-induced epithelial-mesenchymal transition (EMT) in hepatocytes. Represses E-Cadherin/CDH1 transcription via E-box elements. Involved in osteoblast maturation. Binds to RUNX2 and SOC9 promoters and may act as a positive and negative transcription regulator, respectively, in osteoblasts. Binds to CXCL12 promoter via E-box regions in mesenchymal stem cells and osteoblasts. Plays an essential role in TWIST1-induced EMT and its ability to promote invasion and metastasis....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein, DNA-binding, Repressor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the Snail family of C2H2-type zinc finger transcription factors. The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to repress E-cadherin transcription in breast carcinoma. This protein is involved in epithelial-mesenchymal transitions and has antiapoptotic activity. Mutations in this gene may be associated with sporatic cases of neural tube defects. [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 ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Other congenital disorders of metabolism Mapped to neXtProt neXtProt - Evidence at protein level
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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:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001227[DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0001649[osteoblast differentiation] GO:0001837[epithelial to mesenchymal transition] GO:0003180[aortic valve morphogenesis] GO:0003198[epithelial to mesenchymal transition involved in endocardial cushion formation] GO:0003273[cell migration involved in endocardial cushion formation] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006929[substrate-dependent cell migration] GO:0006933[negative regulation of cell adhesion involved in substrate-bound cell migration] GO:0007219[Notch signaling pathway] GO:0007605[sensory perception of sound] GO:0009314[response to radiation] GO:0010631[epithelial cell migration] GO:0010839[negative regulation of keratinocyte proliferation] GO:0010957[negative regulation of vitamin D biosynthetic process] GO:0014032[neural crest cell development] GO:0030335[positive regulation of cell migration] GO:0032331[negative regulation of chondrocyte differentiation] GO:0032642[regulation of chemokine production] GO:0033028[myeloid cell apoptotic process] GO:0033033[negative regulation of myeloid cell apoptotic process] GO:0033629[negative regulation of cell adhesion mediated by integrin] GO:0035066[positive regulation of histone acetylation] GO:0035921[desmosome disassembly] GO:0043473[pigmentation] GO:0043518[negative regulation of DNA damage response, signal transduction by p53 class mediator] GO:0043542[endothelial cell migration] GO:0043565[sequence-specific DNA binding] GO:0045600[positive regulation of fat cell differentiation] GO:0045667[regulation of osteoblast differentiation] GO:0046872[metal ion binding] GO:0050872[white fat cell differentiation] GO:0060021[roof of mouth development] GO:0060429[epithelium development] GO:0060536[cartilage morphogenesis] GO:0060693[regulation of branching involved in salivary gland morphogenesis] GO:0061314[Notch signaling involved in heart development] GO:0070563[negative regulation of vitamin D receptor signaling pathway] GO:0070888[E-box binding] GO:0071364[cellular response to epidermal growth factor stimulus] GO:0071425[hematopoietic stem cell proliferation] GO:0071479[cellular response to ionizing radiation] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:1902034[negative regulation of hematopoietic stem cell proliferation] GO:1902230[negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000810[regulation of bicellular tight junction assembly] GO:2000811[negative regulation of anoikis] GO:2001240[negative regulation of extrinsic apoptotic signaling pathway in absence of ligand]
A0A1X7SC17 [Direct mapping] Zinc finger protein SNAI2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Other congenital disorders of metabolism
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