Basic Information

Symbol
U2AF1
RNA class
mRNA
Alias
U2 Small Nuclear RNA Auxiliary Factor 1 U2AF35 RNU2AF1 U2AFBP RN U2(RNU2) Small Nuclear RNA Auxiliary Factor Binding Protein U2 SnRNP Auxiliary Factor Small Subunit Splicing Factor U2AF 35 KDa Subunit U2 Small Nuclear Ribonucleoprotein Auxillary Factor, 35-KD Subunit U2(RNU2) Small Nuclear RNA Auxiliary Factor 1 U2 Small Nuclear RNA Auxillary Factor 1 Splicing Factor U2AF 35kDa Subunit U2 Auxiliary Factor 35 KDa Subunit FP793
Location (GRCh38)
21:43092956-43107605
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_006758.3
Sequence length
945.0 nt
GC content
0.5206

Transcripts

ID Sequence Length GC content
NM_001025203.1 NCBI
GUCCGGGUGACGUCUCCCGAGGGCGUCGGCAGGGUCGGCGGCGUCGGCA… 971 nt 0.5108
NM_001025204.2 NCBI
GACGUCUCCCGAGGGCGUCGGCAGGGUCGGCGGCGUCGGCAGCAGUGUC… 1012 nt 0.5168
NM_006758.3 NCBI
GACGUCUCCCGAGGGCGUCGGCAGGGUCGGCGGCGUCGGCAGCAGUGUC… 945 nt 0.5206
Summary

This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising 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 small subunit which plays a critical role in both constitutive and enhancer-dependent RNA splicing by directly mediating interactions between the large subunit and proteins bound to the enhancers. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] CIViC Summary for U2AF1 Gene U2AF1 is one of several spliceosome complex genes frequently mutated in a variety of hematologic malignancies, particularly de novo myelodysplastic syndromes (MDS), as well as solid tumors such as lung and pancreatic cancers. Two hotspot mutations (S34 and Q157) occur within the two zinc-finger domains of the U2AF1 protein. These mutations have been associated with altered splicing patterns in vitro and in vivo. U2AF1 mutations in MDS have been associated with an increased risk of transformation to secondary acute myeloid leukemia, however, the impact of these mutations on overall survival has been an area of debate.

Forensic Context

No relevant information is available at the moment.