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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
q22.3
Chromosome location (bp)
101492439 - 101669726
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 playing an important role in primary neurulation and in epithelial development 1,2. Binds directly to the consensus DNA sequence 5'- AACCGGTT-3' acting as an activator and repressor on distinct target genes (By similarity). During embryogenesis, plays unique and cooperative roles with GRHL3 in establishing distinct zones of primary neurulation. Essential for closure 3 (rostral end of the forebrain), functions cooperatively with GRHL3 in closure 2 (forebrain/midbrain boundary) and posterior neuropore closure (By similarity). Regulates epithelial morphogenesis acting as a target gene-associated transcriptional activator of apical junctional complex components. Up-regulates of CLDN3 and CLDN4, as well as of RAB25, which increases the CLDN4 protein and its localization at tight junctions (By similarity). Comprises an essential component of the transcriptional machinery that establishes appropriate expression levels of CLDN4 and CDH1 in different types of epithelia. Exhibits functional redundancy with GRHL3 in epidermal morphogenetic events and epidermal wound repair (By similarity). In lung, forms a regulatory loop with NKX2-1 that coordinates lung epithelial cell morphogenesis and differentiation (By similarity). In keratinocytes, plays a role in telomerase activation during cellular proliferation, regulates TERT expression by binding to TERT promoter region and inhibiting DNA methylation at the 5'-CpG island, possibly by interfering with DNMT1 enzyme activity 3,4. In addition, impairs keratinocyte differentiation and epidermal function by inhibiting the expression of genes clustered at the epidermal differentiation complex (EDC) as well as GRHL1 and GRHL3 through epigenetic mechanisms 5....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
The protein encoded by this gene is a transcription factor that can act as a homodimer or as a heterodimer with either GRHL1 or GRHL3. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal dominant type 28 (DFNA28).[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.
Q6ISB3 [Direct mapping] Grainyhead-like protein 2 homolog
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Immunoglobulin fold Disease related genes Human disease related genes Nervous system diseases Eye disease Ear disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001161[intronic transcription regulatory region sequence-specific DNA binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001843[neural tube closure] GO:0003382[epithelial cell morphogenesis] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005911[cell-cell junction] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007155[cell adhesion] GO:0007420[brain development] GO:0008283[cell population proliferation] GO:0008544[epidermis development] GO:0016020[membrane] GO:0021915[neural tube development] GO:0031490[chromatin DNA binding] GO:0034329[cell junction assembly] GO:0043565[sequence-specific DNA binding] GO:0044030[regulation of DNA methylation] GO:0045617[negative regulation of keratinocyte differentiation] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0051973[positive regulation of telomerase activity] GO:0060487[lung epithelial cell differentiation] GO:0070830[bicellular tight junction assembly] GO:0090132[epithelium migration]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Eye disease Ear disease Protein evidence (Ezkurdia et al 2014)
Q6ISB3 [Direct mapping] Grainyhead-like protein 2 homolog
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Immunoglobulin fold Disease related genes Human disease related genes Nervous system diseases Eye disease Ear disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001161[intronic transcription regulatory region sequence-specific DNA binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001701[in utero embryonic development] GO:0001843[neural tube closure] GO:0003208[cardiac ventricle morphogenesis] GO:0003382[epithelial cell morphogenesis] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005911[cell-cell junction] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007155[cell adhesion] GO:0007420[brain development] GO:0008283[cell population proliferation] GO:0008544[epidermis development] GO:0010468[regulation of gene expression] GO:0016020[membrane] GO:0021915[neural tube development] GO:0030323[respiratory tube development] GO:0031490[chromatin DNA binding] GO:0034329[cell junction assembly] GO:0035264[multicellular organism growth] GO:0042733[embryonic digit morphogenesis] GO:0043010[camera-type eye development] GO:0043565[sequence-specific DNA binding] GO:0044030[regulation of DNA methylation] GO:0045617[negative regulation of keratinocyte differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048568[embryonic organ development] GO:0048701[embryonic cranial skeleton morphogenesis] GO:0051973[positive regulation of telomerase activity] GO:0060324[face development] GO:0060463[lung lobe morphogenesis] GO:0060487[lung epithelial cell differentiation] GO:0060672[epithelial cell morphogenesis involved in placental branching] GO:0061713[anterior neural tube closure] GO:0070830[bicellular tight junction assembly] GO:0090132[epithelium migration]
The Human Protein Atlas project is funded
