GRHL2
entrez
79977
canonical
uniprot
Q6ISB3
canonical
ensembl
ENSG00000083307
resolver
ensp
ENSP00000379260
resolver
ensp
ENSP00000495564
resolver
genesymbol
GRHL2
resolver
genesymbol_syn
BOM
resolver
genesymbol_syn
TFCP2L3
resolver
hgnc
HGNC:2799
resolver
uniprot
A1L303
resolver
uniprot
B4DL28
resolver
uniprot
Q6NT03
resolver
uniprot
Q9H8B8
resolver
uniprot_entry
B4DL28_HUMAN
resolver
uniprot_entry
GRHL2_HUMAN
resolver
uniprot_sec
A1L303
resolver
uniprot_sec
Q6NT03
resolver
uniprot_sec
Q9H8B8
resolver
amino_acid_sequence
MSQESDNNKRLVALVPMPSDPPFNTRRAYTSEDEAWKSYLENPLTAATKAMMSINGDEDSAAALGLLYDYYKVPRDKRLLSVSKASDSQEDQEKRNCLGTSEAQSNLSGGENRVQVLKTVPVNLSLNQDHLENSKREQYSISFPESSAIIPVSGITVVKAEDFTPVFMAPPVHYPRGDGEEQRVVIFEQTQYDVPSLATHSAYLKDDQRSTPDSTYSESFKDAATEKFRSASVGAEEYMYDQTSSGTFQYTLEATKSLRQKQGEGPMTYLNKGQFYAITLSETGDNKCFRHPISKVRSVVMVVFSEDKNRDEQLKYWKYWHSRQHTAKQRVLDIADYKESFNTIGNIEEIAYNAVSFTWDVNEEAKIFITVNCLSTDFSSQKGVKGLPLMIQIDTYSYNNRSNKPIHRAYCQIKVFCDKGAERKIRDEERKQNRKKGKGQASQTQCNSSSDGKLAAIPLQKKSDITYFKTMPDLHSQPVLFIPDVHFANLQRTGQVYYNTDDEREGGSVLVKRMFRPMEEEFGPVPSKQMKEEGTKRVLLYVRKETDDVFDALMLKSPTVKGLMEAISEKYGLPVEKIAKLYKKSKKGILVNMDDNIIEHYSNEDTFILNMESMVEGFKVTLMEI
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal dominant, 28 (DFNA28) [MIM:608641]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. 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. {ECO:0000269|PubMed:12393799}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Ectodermal dysplasia/short stature syndrome (ECTDS) [MIM:616029]: 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. {ECO:0000269|PubMed:25152456}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Corneal dystrophy, posterior polymorphous, 4 (PPCD4) [MIM:618031]: 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. In severe cases, corneal endothelial failure may occur and corneal transplantation is required to restore vision. Secondary complications are common and include corneal edema, glaucoma, iris adherence to the cornea, and corectopia. PPCD4 transmission pattern is consistent with autosomal dominant inheritance. {ECO:0000269|PubMed:29499165}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor playing an important role in primary neurulation and in epithelial development (PubMed:25152456, PubMed:29309642). 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). {ECO:0000250|UniProtKB:Q8K5C0, ECO:0000269|PubMed:19015635, ECO:0000269|PubMed:20938050, ECO:0000269|PubMed:20978075, ECO:0000269|PubMed:23254293, ECO:0000269|PubMed:25152456, ECO:0000269|PubMed:29309642, ECO:0000305|PubMed:12175488}.
uniprot
proteins
mass_dalton
71105
uniprot
proteins
mutagenesis
MUTAGEN 423; /note="R->A,Q: Loss of activity as transcriptional activator."; /evidence="ECO:0000269|PubMed:29309642
uniprot
proteins
protein_family
Grainyhead subfamily
uniprot
proteins
protein_family
Grh/CP2 family
uniprot
proteins
pubmed
12175488
uniprot
proteins
pubmed
12393799
uniprot
proteins
pubmed
12549979
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19015635
uniprot
proteins
pubmed
20938050
uniprot
proteins
pubmed
20978075
uniprot
proteins
pubmed
23254293
uniprot
proteins
pubmed
25152456
uniprot
proteins
pubmed
29309642
uniprot
proteins
pubmed
29499165
uniprot
proteins
sequence_length
625
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20938050, ECO:0000269|PubMed:25152456, ECO:0000269|PubMed:29499165}. Membrane {ECO:0000269|PubMed:25152456}. Note=detected at cell-cell contact areas. {ECO:0000269|PubMed:25152456}.
uniprot
proteins