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... See more...

Aliases for U2AF2 Gene

Aliases for U2AF2 Gene

  • U2 Small Nuclear RNA Auxiliary Factor 2 2 3 5
  • U2 SnRNP Auxiliary Factor Large Subunit 2 3 4
  • U2 Small Nuclear Ribonucleoprotein Auxiliary Factor (65kD) 2 3
  • U2 (RNU2) Small Nuclear RNA Auxiliary Factor 2 2 3
  • Splicing Factor U2AF 65 KDa Subunit 3 4
  • U2 Auxiliary Factor 65 KDa Subunit 3 4
  • HU2AF65 3 4
  • U2AF65 3 4
  • Splicing Factor U2AF 65 KD Subunit 2
  • HU2AF(65) 4

External Ids for U2AF2 Gene

Previous GeneCards Identifiers for U2AF2 Gene

  • GC19P060857
  • GC19P060858
  • GC19P056165
  • GC19P052475

Summaries for U2AF2 Gene

Entrez Gene Summary for U2AF2 Gene

  • 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]

GeneCards Summary for U2AF2 Gene

U2AF2 (U2 Small Nuclear RNA Auxiliary Factor 2) is a Protein Coding gene. Among its related pathways are Transport of Mature Transcript to Cytoplasm and Cleavage of Growing Transcript in the Termination Region. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is UHMK1.

UniProtKB/Swiss-Prot Summary for U2AF2 Gene

  • Plays a role in pre-mRNA splicing and 3'-end processing (PubMed:17024186). By recruiting PRPF19 and the PRP19C/Prp19 complex/NTC/Nineteen complex to the RNA polymerase II C-terminal domain (CTD), and thereby pre-mRNA, may couple transcription to splicing (PubMed:21536736). 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. Positively regulates pre-mRNA 3'-end processing by recruiting the CFIm complex to cleavage and polyadenylation signals (PubMed:17024186).

Gene Wiki entry for U2AF2 Gene

Additional gene information for U2AF2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for U2AF2 Gene

Genomics for U2AF2 Gene

GeneHancer (GH) Regulatory Elements for U2AF2 Gene

Promoters and enhancers for U2AF2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around U2AF2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the U2AF2 gene promoter:
  • ATF-2
  • c-Jun
  • c-Myc
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Max1

Genomic Locations for U2AF2 Gene

Genomic Locations for U2AF2 Gene
chr19:55,654,050-55,674,716
(GRCh38/hg38)
Size:
20,667 bases
Orientation:
Plus strand
chr19:56,165,416-56,186,082
(GRCh37/hg19)
Size:
20,667 bases
Orientation:
Plus strand

Genomic View for U2AF2 Gene

Genes around U2AF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
U2AF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for U2AF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for U2AF2 Gene

Proteins for U2AF2 Gene

  • Protein details for U2AF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P26368-U2AF2_HUMAN
    Recommended name:
    Splicing factor U2AF 65 kDa subunit
    Protein Accession:
    P26368
    Secondary Accessions:
    • Q96HC5

    Protein attributes for U2AF2 Gene

    Size:
    475 amino acids
    Molecular mass:
    53501 Da
    Quaternary structure:
    • Interacts with U2AF1L4 (By similarity). Heterodimer with U2AF1 (PubMed:11551507). Binds unphosphorylated SF1 (PubMed:10449420, PubMed:12718882). Interacts with SCAF11 and SNW1 (PubMed:9447963, PubMed:21460037). Interacts with ZRSR2/U2AF1-RS2. Interacts with RBM17 (PubMed:17589525). Interacts with PRPF19; the interaction is direct. Interacts with POLR2A (via the C-terminal domain); recruits PRPF19 and the Prp19 complex to the pre-mRNA (PubMed:21536736). Interacts with KHDC4 (Isoform 2) (PubMed:19641227). Interacts with ZRSR2 (PubMed:9237760). Interacts with the SF3B complex composed of SF3B1, SF3B2, SF3B3, SF3B4, SF3B5, SF3B6 and PHF5A (PubMed:27720643). Interacts (via N-terminus) with CPSF7 (via C-terminus); this interaction stimulates pre-mRNA 3'-end processing by promoting the recruitment of the CFIm complex to cleavage and polyadenylation signals (PubMed:17024186).

    Three dimensional structures from OCA and Proteopedia for U2AF2 Gene

    Alternative splice isoforms for U2AF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for U2AF2 Gene

Post-translational modifications for U2AF2 Gene

  • 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.
  • Ubiquitination at Lys286, Lys413, and Lys431
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for U2AF2 Gene

Domains & Families for U2AF2 Gene

Gene Families for U2AF2 Gene

Suggested Antigen Peptide Sequences for U2AF2 Gene

GenScript: Design optimal peptide antigens:
  • U2 small nuclear RNA auxiliary factor 2 isoform b (B5BU25_HUMAN)
  • U2 snRNP auxiliary factor large subunit (U2AF2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P26368

UniProtKB/Swiss-Prot:

U2AF2_HUMAN :
  • Belongs to the splicing factor SR family.
Family:
  • Belongs to the splicing factor SR family.
genes like me logo Genes that share domains with U2AF2: view

Function for U2AF2 Gene

Molecular function for U2AF2 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in pre-mRNA splicing and 3'-end processing (PubMed:17024186). By recruiting PRPF19 and the PRP19C/Prp19 complex/NTC/Nineteen complex to the RNA polymerase II C-terminal domain (CTD), and thereby pre-mRNA, may couple transcription to splicing (PubMed:21536736). 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. Positively regulates pre-mRNA 3'-end processing by recruiting the CFIm complex to cleavage and polyadenylation signals (PubMed:17024186).

Phenotypes From GWAS Catalog for U2AF2 Gene

Gene Ontology (GO) - Molecular Function for U2AF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding HDA,IEA 22658674
GO:0005515 protein binding IPI 9237760
GO:0008187 poly-pyrimidine tract binding IBA 21873635
GO:0019899 enzyme binding IPI 19574390
genes like me logo Genes that share ontologies with U2AF2: view
genes like me logo Genes that share phenotypes with U2AF2: view

Animal Model Products

CRISPR Products

miRNA for U2AF2 Gene

miRTarBase miRNAs that target U2AF2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for U2AF2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for U2AF2 Gene

Localization for U2AF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for U2AF2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for U2AF2 gene
Compartment Confidence
nucleus 5
cytosol 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (4)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for U2AF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000243 commitment complex IBA 21873635
GO:0000974 colocalizes_with Prp19 complex IDA 21536736
GO:0005634 nucleus IDA,IEA 1824937
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IDA 9731529
genes like me logo Genes that share ontologies with U2AF2: view

Pathways & Interactions for U2AF2 Gene

genes like me logo Genes that share pathways with U2AF2: view

Pathways by source for U2AF2 Gene

1 KEGG pathway for U2AF2 Gene

Gene Ontology (GO) - Biological Process for U2AF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome IC,TAS --
GO:0006397 mRNA processing TAS,IEA 1538748
GO:0006405 RNA export from nucleus TAS --
GO:0006406 mRNA export from nucleus TAS --
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with U2AF2: view

No data available for SIGNOR curated interactions for U2AF2 Gene

Drugs & Compounds for U2AF2 Gene

(4) Drugs for U2AF2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for U2AF2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with U2AF2: view

Transcripts for U2AF2 Gene

mRNA/cDNA for U2AF2 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for U2AF2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for U2AF2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b
SP1: -
SP2:

Relevant External Links for U2AF2 Gene

GeneLoc Exon Structure for
U2AF2
ECgene alternative splicing isoforms for
U2AF2

Expression for U2AF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for U2AF2 Gene

Protein differential expression in normal tissues from HIPED for U2AF2 Gene

This gene is overexpressed in Lymph node (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for U2AF2 Gene



Protein tissue co-expression partners for U2AF2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of U2AF2 Gene:

U2AF2

SOURCE GeneReport for Unigene cluster for U2AF2 Gene:

Hs.528007

Evidence on tissue expression from TISSUES for U2AF2 Gene

  • Liver(4.3)
  • Skin(4.3)
  • Nervous system(2.2)
  • Lung(2)
genes like me logo Genes that share expression patterns with U2AF2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for U2AF2 Gene

Orthologs for U2AF2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for U2AF2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia U2AF2 33
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia U2AF2 33 32
  • 93.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia U2AF2 33 32
  • 93.12 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia U2af2 32
  • 91.79 (n)
mouse
(Mus musculus)
Mammalia U2af2 17 33 32
  • 91.3 (n)
lizard
(Anolis carolinensis)
Reptilia U2AF2 33
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia u2af2 32
  • 78.52 (n)
Str.5829 32
African clawed frog
(Xenopus laevis)
Amphibia u2af2-prov 32
zebrafish
(Danio rerio)
Actinopterygii u2af2b 33
  • 86 (a)
OneToMany
u2af2a 33 32
  • 76.92 (n)
OneToMany
wufb73g02 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002908 32
  • 68.6 (n)
fruit fly
(Drosophila melanogaster)
Insecta U2af50 33 32
  • 68.29 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea uaf-1 32
  • 57.34 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G60900 32
  • 50.89 (n)
rice
(Oryza sativa)
Liliopsida Os11g0636900 32
  • 52.46 (n)
Os.27324 32
barley
(Hordeum vulgare)
Liliopsida Hv.4847 32
corn
(Zea mays)
Liliopsida Zm.15495 32
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2917 33
  • 61 (a)
OneToOne
Cin.12469 32
bread mold
(Neurospora crassa)
Ascomycetes NCU03039 32
  • 52.89 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes prp2 32
  • 42.17 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12469 32
Species where no ortholog for U2AF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for U2AF2 Gene

ENSEMBL:
Gene Tree for U2AF2 (if available)
TreeFam:
Gene Tree for U2AF2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for U2AF2: view image

Paralogs for U2AF2 Gene

Paralogs for U2AF2 Gene

genes like me logo Genes that share paralogs with U2AF2: view

Variants for U2AF2 Gene

Sequence variations from dbSNP and Humsavar for U2AF2 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000012144 -- 55,653,544(+) A/G/T upstream_transcript_variant
rs1000053761 -- 55,659,646(+) TCTCTGTCTCTG/TCTCTG intron_variant
rs1000064367 -- 55,665,214(+) C/T intron_variant
rs1000095014 -- 55,665,451(+) C/G intron_variant
rs1000123815 -- 55,657,878(+) A/C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for U2AF2 Gene

Variant ID Type Subtype PubMed ID
dgv1822n106 CNV tandem duplication 24896259
esv1128019 CNV insertion 17803354
esv2718987 CNV deletion 23290073
esv3349569 CNV duplication 20981092
nsv1061024 CNV gain 25217958
nsv2553 CNV insertion 18451855
nsv522559 CNV loss 19592680
nsv828644 CNV gain 20364138
nsv833882 CNV loss 17160897
nsv953625 CNV deletion 24416366

Variation tolerance for U2AF2 Gene

Residual Variation Intolerance Score: 11.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.07; 1.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for U2AF2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
U2AF2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for U2AF2 Gene

Disorders for U2AF2 Gene

Additional Disease Information for U2AF2

No disorders were found for U2AF2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for U2AF2 Gene

Publications for U2AF2 Gene

  1. Cloning and domain structure of the mammalian splicing factor U2AF. (PMID: 1538748) Zamore PD … Green MR (Nature 1992) 2 3 4 23 56
  2. Jmjd6 catalyses lysyl-hydroxylation of U2AF65, a protein associated with RNA splicing. (PMID: 19574390) Webby CJ … Böttger A (Science (New York, N.Y.) 2009) 3 4 23 56
  3. An interaction between U2AF 65 and CF I(m) links the splicing and 3' end processing machineries. (PMID: 17024186) Millevoi S … Vagner S (The EMBO journal 2006) 3 4 23 56
  4. A novel peptide recognition mode revealed by the X-ray structure of a core U2AF35/U2AF65 heterodimer. (PMID: 11551507) Kielkopf CL … Burley SK (Cell 2001) 3 4 23 56
  5. Solution structures of the first and second RNA-binding domains of human U2 small nuclear ribonucleoprotein particle auxiliary factor (U2AF(65)). (PMID: 10449418) Ito T … Yokoyama S (The EMBO journal 1999) 3 4 23 56

Products for U2AF2 Gene

Sources for U2AF2 Gene