RBFOX3 Gene Summary [Human]

This gene encodes a member of the RNA-binding FOX protein family which is involved in the regulation of alternative splicing of pre-mRNA. The protein has an N-terminal proline-rich region, an RNA recognition motif (RRM) domain, and a C-terminal alanine-rich region. This gene produces the neuronal nuclei (NeuN) antigen that has been widely used as a marker for post-mitotic neurons. This gene has its highest expression in the central nervous system and plays a prominent role in neural tissue development and regulation of adult brain function. Mutations in this gene have been associated with numerous neurological disorders. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2017]

Details

Type
Protein Coding
Official Symbol
RBFOX3
Official Name
RNA binding fox-1 homolog 3 [Source:HGNC Symbol;Acc:HGNC:27097]
Ensembl ID
ENSG00000167281
Bio databases IDs NCBI: 146713 Ensembl: ENSG00000167281
Aliases RNA binding fox-1 homolog 3, neuronal nuclei, hexaribonucleotide binding protein 3
Synonyms CH17-351M24.1, D11Bwg0517e, FOX-3, HRNBP3, LOC100130312, LOC100133332, LOC101929831, LOC102723900, NEUN, Neuna60, RGD1560070, RNA binding fox-1 homolog 3, RNA binding protein, fox-1 homolog (C. elegans) 3
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 RBFOX3 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
  • RNA recognition motif
  • protein binding
  • 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
  • covid-19 death
  • infectious mononucleosis
  • allergy
  • acute myeloid leukemia
  • benign rolandic epilepsy
  • chronic pain
  • chronic obstructive pulmonary disease
  • endometriosis
  • cleft palate with cleft lip
  • herpes zoster
role in cell
  • expression in
  • migration
  • invasion by
  • regulation in

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
  • intracellular space
  • vesicles
  • plasma membrane projections
  • nucleoplasm
  • perikaryon

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human RBFOX3 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • RNA splicing
  • regulation of alternative nuclear mRNA splicing, via spliceosome
  • nervous system development
  • mRNA processing

Cellular Component

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

Molecular Function

What the gene product does at the molecular level
  • 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.