RFX2 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, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. This protein can bind to cis elements in the promoter of the IL-5 receptor alpha gene. Two transcript variants encoding different isoforms have been described for this gene, and both variants utilize alternative polyadenylation sites. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | RFX2 |
| Official Name | regulatory factor X2 [Source:HGNC Symbol;Acc:HGNC:9983] |
| Ensembl ID | ENSG00000087903 |
| Bio databases IDs | |
| Aliases | regulatory factor X2, trans-acting regulatory factor 2, DNA binding protein RFX2, HLA class II regulatory factor RFX2 |
| Synonyms | 5430432H19RIK, regulatory factor X2, regulatory factor X, 2 (influences HLA class II expression) |
| 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 RFX2 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
- nucleic acid binding
- double-stranded DNA binding
- RFX1 transcription activation region
- 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
- growth failure
- schizophrenia
- azoospermia
- cervical cancer
role in cell
- expression in
- apoptosis
- formation
- assembly
- abnormal morphology
- development
- arrangement
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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RFX2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- acrosome assembly
- cilium morphogenesis
- spermatid development
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- 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
- 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