Human Gene U2AF2 (ENST00000308924.9_8) from GENCODE V47lift37
  Description: U2 small nuclear RNA auxiliary factor 2, transcript variant 1 (from RefSeq NM_007279.3)
Gencode Transcript: ENST00000308924.9_8
Gencode Gene: ENSG00000063244.14_13
Transcript (Including UTRs)
   Position: hg19 chr19:56,166,401-56,186,082 Size: 19,682 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr19:56,166,471-56,185,434 Size: 18,964 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:56,166,401-56,186,082)mRNA (may differ from genome)Protein (475 aa)
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: U2AF2_HUMAN
DESCRIPTION: RecName: Full=Splicing factor U2AF 65 kDa subunit; AltName: Full=U2 auxiliary factor 65 kDa subunit; Short=hU2AF(65); Short=hU2AF65; AltName: Full=U2 snRNP auxiliary factor large subunit;
FUNCTION: Necessary for the splicing of pre-mRNA. Induces cardiac troponin-T (TNNT2) pre-mRNA exon inclusion in muscle. Regulates the TNNT2 exon 5 inclusion through competition with MBNL1. Binds preferentially to a single-stranded structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Required for the export of mRNA out of the nucleus, even if the mRNA is encoded by an intron-less gene. Represses the splicing of MAPT/Tau exon 10.
SUBUNIT: Interacts with U2AF1L4 (By similarity). Heterodimer with U2AF1. Binds unphosphorylated SF1. Interacts with SCAF11. Interacts with ZRSR2/U2AF1-RS2.
INTERACTION: P54253:ATXN1; NbExp=4; IntAct=EBI-742339, EBI-930964; Q01081:U2AF1; NbExp=3; IntAct=EBI-742339, EBI-632461;
SUBCELLULAR LOCATION: Nucleus.
PTM: Lysyl-hydroxylation at Lys-15 and Lys-276 affects the mRNA splicing activity of the protein, leading to regulate some, but not all, alternative splicing events.
SIMILARITY: Belongs to the splicing factor SR family.
SIMILARITY: Contains 3 RRM (RNA recognition motif) domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 71.85 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 2125.08 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -30.4070-0.434 Picture PostScript Text
3' UTR -275.20648-0.425 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012677 - Nucleotide-bd_a/b_plait
IPR000504 - RRM_dom
IPR006529 - U2AF_lg

Pfam Domains:
PF00076 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)

SCOP Domains:
54928 - RNA-binding domain, RBD

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1JMT - X-ray MuPIT 1O0P - NMR MuPIT 1OPI - NMR MuPIT 1U2F - NMR MuPIT 2G4B - X-ray MuPIT 2HZC - X-ray MuPIT 2U2F - NMR MuPIT 2YH0 - NMR MuPIT 2YH1 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P26368
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0008187 poly-pyrimidine tract binding
GO:0019899 enzyme binding
GO:0030628 pre-mRNA 3'-splice site binding
GO:0070742 C2H2 zinc finger domain binding

Biological Process:
GO:0000398 mRNA splicing, via spliceosome
GO:0006397 mRNA processing
GO:0006405 RNA export from nucleus
GO:0006406 mRNA export from nucleus
GO:0008380 RNA splicing
GO:0031124 mRNA 3'-end processing
GO:0031397 negative regulation of protein ubiquitination
GO:0033120 positive regulation of RNA splicing
GO:0048025 negative regulation of mRNA splicing, via spliceosome

Cellular Component:
GO:0000243 commitment complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0016607 nuclear speck
GO:0071004 U2-type prespliceosome
GO:0089701 U2AF
GO:0000974 Prp19 complex


-  Descriptions from all associated GenBank mRNAs
  BC030574 - Homo sapiens U2 small nuclear RNA auxiliary factor 2, mRNA (cDNA clone MGC:16243 IMAGE:3687471), complete cds.
BC008740 - Homo sapiens U2 small nuclear RNA auxiliary factor 2, mRNA (cDNA clone MGC:1210 IMAGE:3346087), complete cds.
X64044 - H.sapiens mmRNA for large subunit of splicing factor U2AF.
CU679069 - Synthetic construct Homo sapiens gateway clone IMAGE:100019553 5' read U2AF2 mRNA.
JF432180 - Synthetic construct Homo sapiens clone IMAGE:100073335 U2 small nuclear RNA auxiliary factor 2 (U2AF2) gene, encodes complete protein.
KJ898405 - Synthetic construct Homo sapiens clone ccsbBroadEn_07799 U2AF2 gene, encodes complete protein.
AB527505 - Synthetic construct DNA, clone: pF1KB5815, Homo sapiens U2AF2 gene for U2 small nuclear RNA auxiliary factor 2, without stop codon, in Flexi system.
AB451387 - Homo sapiens U2AF2 mRNA for U2 small nuclear RNA auxiliary factor 2 isoform b, partial cds, clone: FLJ08076AAAF.
AB451261 - Homo sapiens U2AF2 mRNA for U2 small nuclear RNA auxiliary factor 2 isoform b, complete cds, clone: FLJ08076AAAN.
DQ592840 - Homo sapiens piRNA piR-59952, complete sequence.
JD453386 - Sequence 434410 from Patent EP1572962.
JD436153 - Sequence 417177 from Patent EP1572962.
JD329669 - Sequence 310693 from Patent EP1572962.
JD206235 - Sequence 187259 from Patent EP1572962.
JD499333 - Sequence 480357 from Patent EP1572962.
JD552176 - Sequence 533200 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P26368 (Reactome details) participates in the following event(s):

R-HSA-72107 Formation of the Spliceosomal E complex
R-HSA-75096 Docking of the TAP:EJC Complex with the NPC
R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage
R-HSA-72139 Formation of the active Spliceosomal C (B*) complex
R-HSA-72124 Formation of the Spliceosomal A Complex
R-HSA-72127 Formation of the Spliceosomal B Complex
R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex
R-HSA-8849157 TREX complex binds spliced, capped mRNA:CBC:EJC cotranscriptionally
R-HSA-72185 mRNA polyadenylation
R-HSA-72180 Cleavage of mRNA at the 3'-end
R-HSA-156661 Formation of Exon Junction Complex
R-HSA-159101 NXF1:NXT1 (TAP:p15) binds capped mRNA:CBC:EJC:TREX (minus DDX39B)
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-72187 mRNA 3'-end processing
R-HSA-109688 Cleavage of Growing Transcript in the Termination Region
R-HSA-72172 mRNA Splicing
R-HSA-72202 Transport of Mature Transcript to Cytoplasm
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-73856 RNA Polymerase II Transcription Termination
R-HSA-8953854 Metabolism of RNA
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000308924.1, ENST00000308924.2, ENST00000308924.3, ENST00000308924.4, ENST00000308924.5, ENST00000308924.6, ENST00000308924.7, ENST00000308924.8, NM_007279, P26368, Q96HC5, U2AF2_HUMAN, U2AF65, uc317oki.1, uc317oki.2
UCSC ID: ENST00000308924.9_8
RefSeq Accession: NM_007279.3
Protein: P26368 (aka U2AF2_HUMAN or U2AF_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.