U2AF2 Gene Summary [Human]
U2 auxiliary factor (U2AF), comprised of a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the U2AF large subunit which contains a sequence-specific RNA-binding region with 3 RNA recognition motifs and an Arg/Ser-rich domain necessary for splicing. The large subunit binds to the polypyrimidine tract of introns early during spliceosome assembly. Multiple transcript variants have been detected for this gene, but the full-length natures of only two have been determined to date. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | U2AF2 |
| Official Name | U2 small nuclear RNA auxiliary factor 2 [Source:HGNC Symbol;Acc:HGNC:23156] |
| Ensembl ID | ENSG00000063244 |
| Bio databases IDs | |
| Aliases | U2 small nuclear RNA auxiliary factor 2, U2 small nuclear ribonucleoprotein auxiliary factor (65kD), splicing factor U2AF 65 kD subunit, U2 snRNP auxiliary factor large subunit |
| Synonyms | DEVDFB, LOC690372, U2AF65, U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 2, U2 small nuclear RNA auxiliary factor 2 |
| 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 U2AF2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- arginine serine dipeptide repeat domain
- RNA recognition motif (RRM) superfamily
- RNA recognition motif
- pre-mRNA 3' splice site binding
- enzyme binding
- protein domain specific binding
- Occluded RNA-recognition motif
- protein binding
- U2 snRNP auxilliary factor, large subunit, splicing factor
- RNA-binding domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- melanoma cancer
- developmental delay, dysmorphic facies, and brain anomalies
- insomnia
- hereditary disorder
- organismal death
- leukodystrophy
- metastasis
- metastatic melanoma
- metastatic melanoma cancer
- neurodevelopmental disorder
role in cell
- cell viability
- activation in
- cell death
- migration
- replication in
- survival
- formation
- formation in
- splicing in
- splicing 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
- nuclear fraction
- Cytoplasm
- spliceosomes
- nucleoplasm
- nucleoli
- interchromatin granule clusters
- nuclear speckles
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human U2AF2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of RNA splicing
- negative regulation of nuclear mRNA splicing, via spliceosome
- mRNA processing
- negative regulation of protein ubiquitination
- spliceosomal complex assembly
- nuclear mRNA splicing, via spliceosome
Cellular Component
Where in the cell the gene product is active
- commitment complex
- nucleus
- nuclear speck
- spliceosomal complex
- U2-type prespliceosome
- Prp19 complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- RNA binding
- protein binding
- pre-mRNA 3'-splice site binding
- poly-pyrimidine tract binding
- C2H2 zinc finger domain binding
- enzyme binding