RFX4 Gene Summary [Human]
This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X3, and X5. It has been shown to interact with itself as well as with regulatory factors X2 and X3, but it does not interact with regulatory factor X1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]
Details
| Type | Protein Coding |
| Official Symbol | RFX4 |
| Official Name | regulatory factor X4 [Source:HGNC Symbol;Acc:HGNC:9985] |
| Ensembl ID | ENSG00000111783 |
| Bio databases IDs | |
| Aliases | regulatory factor X4 |
| Synonyms | 4933412G19Rik, LOC102552676, NYD-SP10, regulatory factor X4, regulatory factor X, 4 (influences HLA class II expression), RGD1562092 |
| 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 RFX4 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
- RFX DNA-binding domain
- transcription regulator
- double-stranded DNA binding
- nucleic acid binding
- protein binding
- sequence-specific DNA binding
Pathways
Biological processes and signaling networks where the RFX4 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- atrial fibrillation
- Alzheimer disease
- Huntington disease
- glioma
- glioma formation
- open-angle glaucoma
- congenital hydrocephalus
- glaucoma
regulates
- DNA promoter
- DNA endogenous promoter
- RNA polymerase II
- reporter gene
role in cell
- assembly
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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RFX4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- telencephalon development
- cilium morphogenesis
- positive regulation of transcription from RNA polymerase II promoter
- negative regulation of smoothened signaling pathway
- regulation of transcription from RNA polymerase II promoter
- regulation of protein processing
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- protein 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 RNA polymerase II transcription factor activity