IRF6 Gene Summary [Human]
This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2011]
Details
| Type | Protein Coding |
| Official Symbol | IRF6 |
| Official Name | interferon regulatory factor 6 [Source:HGNC Symbol;Acc:HGNC:6121] |
| Ensembl ID | ENSG00000117595 |
| Bio databases IDs | |
| Aliases | interferon regulatory factor 6 |
| Synonyms | E230028I05Rik, interferon regulatory factor 6, LPS, mirf6, OFC6, PIT, PPS, PPS1, VWS, VWS1 |
| 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 IRF6 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
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- DNA binding domain
- double-stranded DNA binding
- IRF
- Irf binding domain
- Interferon-regulatory factor 3
- protein binding
- sequence-specific DNA binding
- transcription factor activity
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- van der Woude syndrome
- lung squamous cell carcinoma
- squamous cell lung cancer
- van der Woude syndrome type 1
- popliteal pterygium syndrome 1
- cleft palate
- popliteal pterygium syndrome
- Crohn disease
- immune thrombocytopenia
- endometriosis
role in cell
- expression in
- proliferation
- quantity
- migration
- growth
- morphology
- differentiation
- activation
- cellular reprogramming
- invasion by
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
- Cytoplasm
- cytosol
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human IRF6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- keratinocyte proliferation
- limb development
- negative regulation of cell proliferation
- palate development
- cell development
- positive regulation of transcription from RNA polymerase II promoter
- immune system process
- mammary gland epithelial cell differentiation
- regulation of transcription from RNA polymerase II promoter
- negative regulation of keratinocyte proliferation
- keratinocyte differentiation
- positive regulation of transcription, DNA-dependent
- negative regulation of stem cell proliferation
- stem cell proliferation
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular vesicular exosome
- cytoplasm
- cytosol
- chromatin
Molecular Function
What the gene product does at the molecular level
- DNA binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- 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 RNA polymerase II transcription factor activity