GRHL2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | GRHL2 |
| Official Name | grainyhead like transcription factor 2 [Source:HGNC Symbol;Acc:HGNC:2799] |
| Ensembl ID | ENSG00000083307 |
| Bio databases IDs | |
| Aliases | grainyhead like transcription factor 2, brother-of-MGR |
| Synonyms | 0610015A08Rik, BOM, clft3, DFNA28, ECTDS, grainyhead-like transcription factor 2, PPCD4, RGD1561191, TCFCP2L3, TFCP2L3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GRHL2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- nucleic acid binding
- chromatin binding
- transcription factor binding
- protein binding
- sequence-specific DNA binding
- identical protein binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- transcription factor activity
- CP2 transcription factor
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- endometriosis
- posterior polymorphous corneal dystrophy 4
- familial nonsyndromic hearing impairment
- breast cancer
- nonsyndromic dominant deafness, DFNA28
- corneal dystrophy
- tuberculosis
- ectodermal dysplasia/short stature syndrome
- tumorigenesis
role in cell
- proliferation
- expression in
- migration
- growth
- adhesion
- differentiation
- assembly
- epithelial-mesenchymal transition
- morphogenesis
- epithelial to mesenchymal transdifferentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- intercellular junctions
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GRHL2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neural tube development
- multicellular organism growth
- epithelial cell morphogenesis involved in placental branching
- lung lobe morphogenesis
- lung epithelial cell differentiation
- epithelial cell morphogenesis
- epithelium migration
- embryonic cranial skeleton morphogenesis
- cell adhesion
- brain development
- positive regulation of transcription from RNA polymerase II promoter
- face development
- embryonic digit morphogenesis
- regulation of transcription from RNA polymerase II promoter
- positive regulation of telomerase activity
- keratinocyte differentiation
- neural tube closure
- cardiac ventricle morphogenesis
- camera-type eye development
- tight junction assembly
- cell junction assembly
Cellular Component
Where in the cell the gene product is active
- nucleus
- cell-cell junction
- membrane
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- chromatin DNA binding
- identical protein binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- intronic transcription regulatory region sequence-specific DNA binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding
- sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity