RBFOX2 Gene Summary [Human]

This gene is one of several human genes similar to the C. elegans gene Fox-1. This gene encodes an RNA binding protein that is thought to be a key regulator of alternative exon splicing in the nervous system and other cell types. The protein binds to a conserved UGCAUG element found downstream of many alternatively spliced exons and promotes inclusion of the alternative exon in mature transcripts. The protein also interacts with the estrogen receptor 1 transcription factor and regulates estrogen receptor 1 transcriptional activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
RBFOX2
Official Name
RNA binding fox-1 homolog 2 [Source:HGNC Symbol;Acc:HGNC:9906]
Ensembl ID
ENSG00000100320
Bio databases IDs NCBI: 23543 Ensembl: ENSG00000100320
Aliases RNA binding fox-1 homolog 2, hexaribonucleotide binding protein 2
Synonyms dJ106I20.3, FBM2, FOX2, Fxh, HNRBP2, HRNBP2, RBM9, Rbm9 (predicted), RNA binding fox-1 homolog 2, RNA binding protein, fox-1 homolog (C. elegans) 2
Species
Human, Homo sapiens
OrthologiesMouseRat

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 RBFOX2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Calcitonin gene-related peptide regulator C terminal
  • RNA recognition motif (RRM) superfamily
  • transcription regulator
  • RNA recognition motif
  • mRNA binding
  • transcription co-repressor
  • nuclear localization sequence
  • transcription factor binding
  • protein binding
  • single-stranded RNA binding
  • RNA binding

Pathways

Biological processes and signaling networks where the RBFOX2 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
  • neoplasia
  • hypertension
  • tumorigenesis
  • hereditary disorder
  • congenital heart disease
  • organismal death
  • specific language impairment
  • impaired glucose tolerance
  • suicide attempt
regulated by
role in cell
  • expression in
  • migration
  • growth
  • proliferation
  • apoptosis
  • quantity
  • differentiation
  • firing
  • morphology
  • invasiveness

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
  • nucleoplasm

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human RBFOX2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • RNA splicing
  • RNA metabolic process
  • negative regulation of transcription, DNA-dependent
  • regulation of alternative nuclear mRNA splicing, via spliceosome
  • nervous system development
  • mRNA processing
  • intracellular estrogen receptor signaling pathway
  • regulation of cell proliferation

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • cytoplasm
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • RNA binding
  • protein binding
  • transcription corepressor activity
  • mRNA binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.