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    U2AF2 U2 small nuclear RNA auxiliary factor 2 [ Homo sapiens (human) ]

    Gene ID: 11338, updated on 3-Nov-2024

    Summary

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    Official Symbol
    U2AF2provided by HGNC
    Official Full Name
    U2 small nuclear RNA auxiliary factor 2provided by HGNC
    Primary source
    HGNC:HGNC:23156
    See related
    Ensembl:ENSG00000063244 MIM:191318; AllianceGenome:HGNC:23156
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DEVDFB; U2AF65
    Summary
    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]
    Expression
    Ubiquitous expression in spleen (RPKM 33.5), appendix (RPKM 33.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See U2AF2 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55655035..55674716)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58750963..58771692)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (56166401..56186082)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11051 Neighboring gene Sharpr-MPRA regulatory region 1979 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15102 Neighboring gene zinc finger protein 581 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11053 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:56155949-56156914 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11055 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11056 Neighboring gene zinc finger protein 580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15105 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15106 Neighboring gene coiled-coil domain containing 106 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11057 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11058 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15107 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11061 Neighboring gene Sharpr-MPRA regulatory region 14549 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:56192159-56192659 Neighboring gene epsin 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:56213120-56214004 Neighboring gene vomeronasal 1 receptor 106 pseudogene Neighboring gene NLR family pyrin domain containing 9 Neighboring gene RN7SK pseudogene 109

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Alternative conformations at the RNA-binding surface of the N-terminal U2AF(65) RNA recognition motif. Thickman KR, et al. J Mol Biol, 2007 Feb 23. PMID 17188295, Free PMC Article
    2. Solution structures of the first and second RNA-binding domains of human U2 small nuclear ribonucleoprotein particle auxiliary factor (U2AF(65)). Ito T, et al. EMBO J, 1999 Aug 16. PMID 10449418, Free PMC Article
    3. An extended U2AF(65)-RNA-binding domain recognizes the 3' splice site signal. Agrawal AA, et al. Nat Commun, 2016 Mar 8. PMID 26952537, Free PMC Article
    4. A Broad range of conformations contribute to the solution ensemble of the essential splicing factor U2AF(65). Jenkins JL, et al. Biochemistry, 2012 Jul 3. PMID 22702716, Free PMC Article
    5. In vitro iCLIP-based modeling uncovers how the splicing factor U2AF2 relies on regulation by cofactors. Sutandy FXR, et al. Genome Res, 2018 May. PMID 29643205, Free PMC Article

    See all (296) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The U2AF65/circNCAPG/RREB1 feedback loop promotes malignant phenotypes of glioma stem cells through activating the TGF-beta pathway.
      Title: The U2AF65/circNCAPG/RREB1 feedback loop promotes malignant phenotypes of glioma stem cells through activating the TGF-β pathway.
    2. All-Atom Simulations Elucidate the Impact of U2AF2 Cancer-Associated Mutations on Pre-mRNA Recognition.
      Title: All-Atom Simulations Elucidate the Impact of U2AF2 Cancer-Associated Mutations on Pre-mRNA Recognition.
    3. A UHM-ULM interface with unusual structural features contributes to U2AF2 and SF3B1 association for pre-mRNA splicing.
      Title: A UHM-ULM interface with unusual structural features contributes to U2AF2 and SF3B1 association for pre-mRNA splicing.
    4. LncRNA NEAT1 stabilized Wnt3a via U2AF2 and activated Wnt/beta-catenin pathway to alleviate ischemia stroke induced injury.
      Title: LncRNA NEAT1 stabilized Wnt3a via U2AF2 and activated Wnt/β-catenin pathway to alleviate ischemia stroke induced injury.
    5. Pre-mRNA splicing factor U2AF2 recognizes distinct conformations of nucleotide variants at the center of the pre-mRNA splice site signal.
      Title: Pre-mRNA splicing factor U2AF2 recognizes distinct conformations of nucleotide variants at the center of the pre-mRNA splice site signal.
    6. U2 small nuclear RNA auxiliary factor 2, transcriptionally activated by the transcription factor Dp-1/E2F transcription factor 1 complex, enhances the growth and aerobic glycolysis of leiomyosarcoma cells.
      Title: U2 small nuclear RNA auxiliary factor 2, transcriptionally activated by the transcription factor Dp-1/E2F transcription factor 1 complex, enhances the growth and aerobic glycolysis of leiomyosarcoma cells.
    7. Circular RNA FOXP1 Induced by ZNF263 Upregulates U2AF2 Expression to Accelerate Renal Cell Carcinoma Tumorigenesis and Warburg Effect through Sponging miR-423-5p.
      Title: Circular RNA FOXP1 Induced by ZNF263 Upregulates U2AF2 Expression to Accelerate Renal Cell Carcinoma Tumorigenesis and Warburg Effect through Sponging miR-423-5p.
    8. Identification of long non-coding RNAs in advanced prostate cancer associated with androgen receptor splicing factors.
      Title: Identification of long non-coding RNAs in advanced prostate cancer associated with androgen receptor splicing factors.
    9. Representative cancer-associated U2AF2 mutations alter RNA interactions and splicing.
      Title: Representative cancer-associated U2AF2 mutations alter RNA interactions and splicing.
    10. Influenza virus natural sequence heterogeneity in segment 8 affects interactions with cellular RNA-binding proteins and splicing efficiency.
      Title: Influenza virus natural sequence heterogeneity in segment 8 affects interactions with cellular RNA-binding proteins and splicing efficiency.
    Submit: New GeneRIF Correction See all GeneRIFs (61)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Developmental delay, dysmorphic facies, and brain anomalies
    MedGen: C5882698 OMIM: 620535 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Expression of HIV-1 Tat upregulates the abundance of U2 small nuclear RNA auxiliary factor 2 (U2AF2) in the nucleoli of Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables C2H2 zinc finger domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding HDA PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables molecular function inhibitor activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables poly-pyrimidine tract binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables pre-mRNA 3'-splice site binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables pre-mRNA 3'-splice site binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mRNA processing TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in mRNA splicing, via spliceosome IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mRNA splicing, via spliceosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of protein ubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of RNA splicing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in spliceosomal complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of Prp19 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of U2-type prespliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of U2-type prespliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of U2AF complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of U2AF complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of U2AF complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of commitment complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nuclear speck IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of spliceosomal complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of spliceosomal complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    splicing factor U2AF 65 kDa subunit
    Names
    U2 (RNU2) small nuclear RNA auxiliary factor 2
    U2 auxiliary factor 65 kDa subunit
    U2 small nuclear ribonucleoprotein auxiliary factor (65kD)
    U2 snRNP auxiliary factor large subunit
    hU2AF65

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032904.1 RefSeqGene

      Range
      5001..25667
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_623

    mRNA and Protein(s)

    1. NM_001012478.2 → NP_001012496.1  splicing factor U2AF 65 kDa subunit isoform b

      See identical proteins and their annotated locations for NP_001012496.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC008735, BC008740, BC030574
      Consensus CDS
      CCDS46197.1
      UniProtKB/TrEMBL
      B5BU25
      Related
      ENSP00000388475.1, ENST00000450554.6
      Conserved Domains (1) summary
      TIGR01642
      Location:63 → 470
      U2AF_lg; U2 snRNP auxilliary factor, large subunit, splicing factor

    2. NM_007279.3 → NP_009210.1  splicing factor U2AF 65 kDa subunit isoform a

      See identical proteins and their annotated locations for NP_009210.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC008735, BC008740, BC030574, X64044
      Consensus CDS
      CCDS12933.1
      UniProtKB/Swiss-Prot
      P26368, Q96HC5
      UniProtKB/TrEMBL
      B5BU25
      Related
      ENSP00000307863.3, ENST00000308924.9
      Conserved Domains (1) summary
      TIGR01642
      Location:63 → 474
      U2AF_lg; U2 snRNP auxilliary factor, large subunit, splicing factor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      55655035..55674716
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526410.2 → XP_011524712.1  splicing factor U2AF 65 kDa subunit isoform X1

      Conserved Domains (1) summary
      TIGR01642
      Location:1 → 370
      U2AF_lg; U2 snRNP auxilliary factor, large subunit, splicing factor

    2. XM_047438120.1 → XP_047294076.1  splicing factor U2AF 65 kDa subunit isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      58750963..58771692
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319694.1 → XP_054175669.1  splicing factor U2AF 65 kDa subunit isoform X1

    2. XM_054319695.1 → XP_054175670.1  splicing factor U2AF 65 kDa subunit isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P26368.4 GenPept UniProtKB/Swiss-Prot:P26368

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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