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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 (PubMed:19015635, PubMed:20938050). 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 (PubMed:23254293)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12175488"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12549979"}],"value":"Homodimer, also forms heterodimers with GRHL1 or GRHL3"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q6ISB3","intActId":"EBI-10219092"},"interactantTwo":{"uniProtKBAccession":"Q9NZI5","geneName":"GRHL1","intActId":"EBI-11109373"},"numberOfExperiments":7,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q6ISB3","intActId":"EBI-10219092"},"interactantTwo":{"uniProtKBAccession":"Q6ISB3","geneName":"GRHL2","intActId":"EBI-10219092"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q6ISB3","intActId":"EBI-10219092"},"interactantTwo":{"uniProtKBAccession":"P61968","geneName":"LMO4","intActId":"EBI-2798728"},"numberOfExperiments":7,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q6ISB3","intActId":"EBI-10219092"},"interactantTwo":{"uniProtKBAccession":"Q02548","geneName":"PAX5","intActId":"EBI-296331"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q6ISB3","intActId":"EBI-10219092"},"interactantTwo":{"uniProtKBAccession":"P26367","geneName":"PAX6","intActId":"EBI-747278"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q6ISB3","intActId":"EBI-10219092"},"interactantTwo":{"uniProtKBAccession":"O75928-2","geneName":"PIAS2","intActId":"EBI-348567"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25152456"}],"value":"detected at cell-cell contact areas"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20938050"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25152456"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29499165"}],"value":"Nucleus","id":"SL-0191"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25152456"}],"value":"Membrane","id":"SL-0162"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["Q6ISB3-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["Q6ISB3-2"],"sequenceIds":["VSP_017642"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12175488"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12393799"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20978075"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25152456"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29499165"}],"value":"Expressed in keratinocytes (at protein level). Highly expressed in placenta, prostate, brain and kidney. Lower-level expression in a variety of epithelial tissues such as thymus, lung, salivary gland, mammary gland and digestive tract. Expressed in the cochlear. Expressed in corneal epithelial cells, but not in the endothelium or stroma (PubMed:29499165)"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20938050"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23254293"}],"value":"Expressed in proliferating cells, the expression decreases during senescence. In keratinocytes, expression levels decrease upon calcium exposure"}],"commentType":"INDUCTION"},{"commentType":"DISEASE","disease":{"diseaseId":"Deafness, autosomal dominant, 28","diseaseAccession":"DI-00849","acronym":"DFNA28","description":"A form of non-syndromic sensorineural hearing loss. 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DFNA28 is characterized by mild to moderate hearing loss across most frequencies that progresses to severe loss in the higher frequencies by the fifth decade.","diseaseCrossReference":{"database":"MIM","id":"608641"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12393799"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Ectodermal dysplasia/short stature syndrome","diseaseAccession":"DI-04239","acronym":"ECTDS","description":"An autosomal recessive ectodermal dysplasia syndrome characterized by nail dystrophy and/or loss, oral mucosa and/or tongue pigmentation, abnormal dentition, keratoderma affecting the margins of the palms and soles, focal hyperkeratosis of the dorsal aspects of the hands and feet, and short stature.","diseaseCrossReference":{"database":"MIM","id":"616029"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25152456"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Corneal dystrophy, posterior polymorphous, 4","diseaseAccession":"DI-05267","acronym":"PPCD4","description":"A subtype of posterior corneal dystrophy, a disease characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. 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They have related but remarkably different functions during embryogenesis because of their differential spatiotemporal expression patterns during development"}],"commentType":"MISCELLANEOUS"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the grh/CP2 family. 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