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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 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
9
Cytoband
q31.2
Chromosome location (bp)
107484852 - 107490482
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; can act both as activator and as repressor. Binds the 5'-CACCC-3' core sequence. Binds to the promoter region of its own gene and can activate its own transcription. Regulates the expression of key transcription factors during embryonic development. Plays an important role in maintaining embryonic stem cells, and in preventing their differentiation. Required for establishing the barrier function of the skin and for postnatal maturation and maintenance of the ocular surface. Involved in the differentiation of epithelial cells and may also function in skeletal and kidney development. Contributes to the down-regulation of p53/TP53 transcription....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
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 protein that belongs to the Kruppel family of transcription factors. The encoded zinc finger protein is required for normal development of the barrier function of skin. The encoded protein is thought to control the G1-to-S transition of the cell cycle following DNA damage by mediating the tumor suppressor gene p53. Mice lacking this gene have a normal appearance but lose weight rapidly, and die shortly after birth due to fluid evaporation resulting from compromised epidermal barrier function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]...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 Zinc-coordinating DNA-binding domains Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000791[euchromatin] 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:0001010[RNA polymerase II sequence-specific DNA-binding transcription factor recruiting activity] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0002067[glandular epithelial cell differentiation] GO:0002357[defense response to tumor cell] 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:0005829[cytosol] GO:0006351[DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006366[transcription by RNA polymerase II] GO:0007500[mesodermal cell fate determination] GO:0008013[beta-catenin binding] GO:0008270[zinc ion binding] GO:0008285[negative regulation of cell population proliferation] GO:0008544[epidermis development] GO:0009913[epidermal cell differentiation] GO:0010033[response to organic substance] GO:0010467[gene expression] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0015630[microtubule cytoskeleton] GO:0016525[negative regulation of angiogenesis] GO:0019827[stem cell population maintenance] GO:0030336[negative regulation of cell migration] GO:0031077[post-embryonic camera-type eye development] GO:0031490[chromatin DNA binding] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0032526[response to retinoic acid] GO:0032717[negative regulation of interleukin-8 production] GO:0034115[negative regulation of heterotypic cell-cell adhesion] GO:0035019[somatic stem cell population maintenance] GO:0035166[post-embryonic hemopoiesis] GO:0042127[regulation of cell population proliferation] GO:0043154[negative regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0043565[sequence-specific DNA binding] GO:0045429[positive regulation of nitric oxide biosynthetic process] GO:0045444[fat cell differentiation] GO:0045595[regulation of cell differentiation] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0046985[positive regulation of hemoglobin biosynthetic process] GO:0048679[regulation of axon regeneration] GO:0048730[epidermis morphogenesis] GO:0050728[negative regulation of inflammatory response] GO:0051247[positive regulation of protein metabolic process] GO:0051973[positive regulation of telomerase activity] GO:0060070[canonical Wnt signaling pathway] GO:0060761[negative regulation of response to cytokine stimulus] GO:0061436[establishment of skin barrier] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0071363[cellular response to growth factor stimulus] GO:0071499[cellular response to laminar fluid shear stress] GO:0090051[negative regulation of cell migration involved in sprouting angiogenesis] GO:0120222[regulation of blastocyst development] GO:1902895[positive regulation of miRNA transcription] GO:1903672[positive regulation of sprouting angiogenesis] GO:1904798[positive regulation of core promoter binding] GO:1904998[negative regulation of leukocyte adhesion to arterial endothelial cell] GO:1990830[cellular response to leukemia inhibitory factor] GO:1990837[sequence-specific double-stranded DNA binding] GO:1990841[promoter-specific chromatin binding] GO:2000134[negative regulation of G1/S transition of mitotic cell cycle] GO:2000342[negative regulation of chemokine (C-X-C motif) ligand 2 production]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
