Gene Symbol: ZRSR2
Description: zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2
Alias: U2AF1-RS2, U2AF1L2, U2AF1RS2, URP, ZC3H22, U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2, U2 small nuclear ribonucleoprotein auxiliary factor, small subunit 2, U2(RNU2) small nuclear RNA auxiliary factor 1-like 2, U2AF35-related protein, renal carcinoma antigen NY-REN-20, zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2
Species: human
Products:     ZRSR2

Top Publications

  1. Gorski S, Bartnicka M, Citko A, Zelazowska Rutkowska B, Jablonski K, Gorska A. Microangiopathy in Naifold Videocapillaroscopy and Its Relations to sE- Selectin, Endothelin-1, and hsCRP as Putative Endothelium Dysfunction Markers among Adolescents with Raynaud's Phenomenon. J Clin Med. 2019;8: pubmed publisher
    ..The study group included 66 patients (34 undifferentiated-uRP and 32 secondary-sRP) aged 6-19 years and the control group...
  2. Szczepaniak A, Machnicki M, Gniot M, Pepek M, Rydzanicz M, Płoski R, et al. Germline missense NF1 mutation in an elderly patient with a blastic plasmacytoid dendritic cell neoplasm. Int J Hematol. 2019;: pubmed publisher
    ..3671 C>G mutation, with ASXL1, ZRSR2 and TET2 mutation-positive blastic plasmacytoid dendritic cell neoplasm (BPDCN)...
  3. Evaniew N, Fallah N, Rivers C, Noonan V, Fisher C, Dvorak M, et al. Unbiased Recursive Partitioning to Stratify Patients With Acute Traumatic Spinal Cord Injuries: External Validity in an Observational Cohort Study. J Neurotrauma. 2019;: pubmed publisher
    ..Unbiased Recursive Partitioning regression with Conditional Inference Trees (URP-CTREE) is a novel approach developed through analyses of a large European SCI database (EMSCI)...
  4. Liberante F, Lappin K, Barros E, Vohhodina J, Grebien F, Savage K, et al. Altered splicing and cytoplasmic levels of tRNA synthetases in SF3B1-mutant myelodysplastic syndromes as a therapeutic vulnerability. Sci Rep. 2019;9:2678 pubmed publisher
    ..efforts have uncovered recurrent somatic mutations within RNA splicing factors, including SF3B1, SRSF2, U2AF1 and ZRSR2. The most frequently mutated gene is SF3B1, mutated in 17% of MDS patients...
  5. Bai F, Corll J, Shodja D, Davenport R, Feng G, Mudunkothge J, et al. RNA Binding Motif Protein 48 Is Required for U12 Splicing and Maize Endosperm Differentiation. Plant Cell. 2019;31:715-733 pubmed publisher
    ..Maize RBM48 and ARMC7 have a conserved protein-protein interaction. These data predict that RBM48 is likely to function in U12 splicing throughout eukaryotes and that U12 splicing promotes endosperm cell differentiation in maize. ..
  6. Bell Z, Lovell P, Mello C, Yip P, George J, Clayton D. Urotensin-related gene transcripts mark developmental emergence of the male forebrain vocal control system in songbirds. Sci Rep. 2019;9:816 pubmed publisher
    ..We show that the UTS2B gene, encoding Urotensin-Related Peptide (URP), is uniquely expressed in a key pre-motor vocal nucleus (HVC), and specifically marks the neurons that form a male-..
  7. Davegårdh C, Hall Wedin E, Broholm C, Henriksen T, Pedersen M, Pedersen B, et al. Sex influences DNA methylation and gene expression in human skeletal muscle myoblasts and myotubes. Stem Cell Res Ther. 2019;10:26 pubmed publisher
    ..Five genes (CREB5, RPS4X, SYAP1, XIST, and ZRSR2) showed differential DNA methylation and gene expression between the sexes in both myoblasts and myotubes...
  8. Smith R, Eklund K, Kilgus S. Concurrent validity and sensitivity to change of Direct Behavior Rating Single-Item Scales (DBR-SIS) within an elementary sample. Sch Psychol Q. 2018;33:83-93 pubmed publisher
    ..In addition, teacher Usage Rating Profile-Assessment (URP-A) ratings indicated they found DBR-SIS to be acceptable and usable...
  9. Liu L, Yin J, Liu C, Guan G, Shi D, Wang X, et al. In vivo molecular imaging of gastric cancer in human-murine xenograft models with confocal laser endomicroscopy using a tumor vascular homing peptide. Cancer Lett. 2015;356:891-8 pubmed publisher
    ..xenograft models in vivo after the injection of FITC-GEBP11 via tail vein, whereas the group injected with FITC-URP showed no fluorescent signals...

More Information


  1. McClure R, Ewalt M, Crow J, Temple Smolkin R, Pullambhatla M, Sargent R, et al. Clinical Significance of DNA Variants in Chronic Myeloid Neoplasms: A Report of the Association for Molecular Pathology. J Mol Diagn. 2018;20:717-737 pubmed publisher
    ..MPL, NF1, NPM1, NRAS, PHF6, PPM1D, PTPN11, RAD21, RUNX1, SETBP1, SF3B1, SMC3, SRSF2, STAG2, TET2, TP53, U2AF1, and ZRSR2. This list is not comprehensive for all myeloid neoplasms and will evolve as insights into effects of combinations ..
  2. Yang Y, Chiu Y, Kao C, Hou H, Lin C, Tsai C, et al. The prognostic significance of global aberrant alternative splicing in patients with myelodysplastic syndrome. Blood Cancer J. 2018;8:78 pubmed publisher
    ..factor irrespective of age, revised international prognostic scoring system (IPSS-R) risk, and mutations in SRSF2, ZRSR2, ASXL1, TP53, and EZH2...
  3. Lindsley R, Mar B, Mazzola E, Grauman P, Shareef S, Allen S, et al. Acute myeloid leukemia ontogeny is defined by distinct somatic mutations. Blood. 2015;125:1367-76 pubmed publisher
    ..The presence of a mutation in SRSF2, SF3B1, U2AF1, ZRSR2, ASXL1, EZH2, BCOR, or STAG2 was >95% specific for the diagnosis of s-AML...
  4. Jhanwar S. Genetic and epigenetic pathways in myelodysplastic syndromes: A brief overview. Adv Biol Regul. 2015;58:28-37 pubmed publisher
    ..The most common driver gene mutations detected in patients with MDS include RNA splicing (SF3B1,SRSF2,U2F1,ZRSR2), DNA methylation (TET2,DNMT3A,IDH1/IDH2), chromatin modification (ASXL1,EZH2), transcription regulation (RUNX1,..
  5. Quan F, Dubessy C, Galant S, Kenigfest N, Djenoune L, Leprince J, et al. Comparative distribution and in vitro activities of the urotensin II-related peptides URP1 and URP2 in zebrafish: evidence for their colocalization in spinal cerebrospinal fluid-contacting neurons. PLoS ONE. 2015;10:e0119290 pubmed publisher
    ..UII-related peptides (URPs), such that the UII family is now known to include four paralogue genes called UII, URP, URP1 and URP2...
  6. Brulé C, Perzo N, Joubert J, Sainsily X, Leduc R, Castel H, et al. Biased signaling regulates the pleiotropic effects of the urotensin II receptor to modulate its cellular behaviors. FASEB J. 2014;28:5148-62 pubmed publisher
    ..The tested peptides induced three different profiles: UII, urotensin-related peptide (URP), and UII4-11 displayed the full profile; [Orn(8)]UII and [Orn(5)]URP activated G proteins, although with pEC50s 5-..
  7. Nguyen H, Leong W, Li W, Reddy P, Sullivan J, Walter M, et al. Spliceosome Mutations Induce R Loop-Associated Sensitivity to ATR Inhibition in Myelodysplastic Syndromes. Cancer Res. 2018;78:5363-5374 pubmed publisher
    Heterozygous somatic mutations in spliceosome genes (U2AF1, SF3B1, ZRSR2, or SRSF2) occur in >50% of patients with myelodysplastic syndrome (MDS)...
  8. Oghabian A, Greco D, Frilander M. IntEREst: intron-exon retention estimator. BMC Bioinformatics. 2018;19:130 pubmed publisher
    ..retention in human and plant RNAseq dataset with defects in the U12-dependent spliceosome due to mutations in the ZRSR2 component of this spliceosome...
  9. Vaudry H, Leprince J, Chatenet D, Fournier A, Lambert D, Le Mével J, et al. International Union of Basic and Clinical Pharmacology. XCII. Urotensin II, urotensin II-related peptide, and their receptor: from structure to function. Pharmacol Rev. 2015;67:214-58 pubmed publisher
    ..studies and synteny analysis indicate that UII and its paralogous peptide urotensin II-related peptide (URP) belong to the somatostatin/cortistatin superfamily...
  10. Mazzio E, Lewis C, Soliman K. Transcriptomic Profiling of MDA-MB-231 Cells Exposed to Boswellia Serrata and 3-O-Acetyl-B-Boswellic Acid; ER/UPR Mediated Programmed Cell Death. Cancer Genomics Proteomics. 2017;14:409-425 pubmed
    ..Global profiling confirms concomitant effects of BSE/3-OA?BA on upwardly expressed ER/URP APCD key components PERK (EIF2AK3), XBP1, C/EBP homologous protein transcription factor (CHOP), ATF3 and DDIT3,4/..
  11. Song K, Xue Y, Zheng X, Lv W, Qiao H, Qin Q, et al. Effects of the continuous use of organic manure and chemical fertilizer on soil inorganic phosphorus fractions in calcareous soil. Sci Rep. 2017;7:1164 pubmed publisher
    ..CF) treatment than under the organic manure (OM) treatment, and the average utilization rate of P fertilizer (URP) values were 5.27% and 11.40% under the OM and CF treatments, respectively, over the 4 years...
  12. Berman E, Jhanwar S, Hedvat C, Arcila M, Wahab O, Levine R, et al. Resistance to imatinib in patients with chronic myelogenous leukemia and the splice variant BCR-ABL1(35INS). Leuk Res. 2016;49:108-12 pubmed publisher
    ..DNA sequencing of commonly mutated spliceosomal genes SF3B1, U2AF1, SRSF2, ZRSR2, SFA31, PRPF408, U2A565, and SF1 did not reveal mutations in seven BCR-ABL1(35INS) -positive patients tested...
  13. Gaind S. Phosphate dissolving fungi: Mechanism and application in alleviation of salt stress in wheat. Microbiol Res. 2016;193:94-102 pubmed publisher
    ..present investigation reveals the solubilization efficiency of tri-calcium phosphate (TCP), Udaipur rock phosphate (URP), aluminium phosphate (AP) and ferric phosphate (FP) by Aspergillus niger (ITCC 6719) and Trichoderma harzianum (..
  14. Janusz K, Del Rey M, Abáigar M, Collado R, Ivars D, Hernández Sánchez M, et al. A two-step approach for sequencing spliceosome-related genes as a complementary diagnostic assay in MDS patients with ringed sideroblasts. Leuk Res. 2017;56:82-87 pubmed publisher
    ..Secondly, they were studied by NGS covering besides SF3B1, SRSF2, U2AF1 and ZRSR2 genes. An 86% of all patients showed mutations in the SF3B1 gene...
  15. Muñoz Sánchez M, Rodriguez Rodriguez A, Egea Guerrero J, Gordillo Escobar E, Vilches Arenas A, Carrillo Vico A, et al. Urotensinergic system genes in experimental subarachnoid hemorrhage. Med Intensiva. 2017;41:468-474 pubmed publisher
    ..An analysis is made of the serum U-II concentrations and mRNA expression levels of U-II, urotensin related peptide (URP) and urotensin receptor (UT) genes in an experimental murine model of SAH. An experimental study was carried out...
  16. Jin S, Su H, Tran N, Song J, Lu S, Li Y, et al. Splicing factor SF3B1K700E mutant dysregulates erythroid differentiation via aberrant alternative splicing of transcription factor TAL1. PLoS ONE. 2017;12:e0175523 pubmed publisher
    ..dysplasia syndrome (MDS) contains mutations in genes encoding for splicing factors such as SF3B1, U2AF, SRSF2 and ZRSR2. Mutations in SF3B1 are associated with 80% cases of refractory anemia with ring sideroblast (RARS), a subtype of ..
  17. Velstra I, Bolliger M, Krebs J, Rietman J, Curt A. Predictive Value of Upper Limb Muscles and Grasp Patterns on Functional Outcome in Cervical Spinal Cord Injury. Neurorehabil Neural Repair. 2016;30:295-306 pubmed publisher
    ..limb function and ADLs, a logistic regression model and unbiased recursive partitioning conditional inference tree (URP-CTREE) were used...
  18. Pitt S, Hernandez R, Nehs M, Gawande A, Moore F, Ruan D, et al. Identification of Novel Oncogenic Mutations in Thyroid Cancer. J Am Coll Surg. 2016;222:1036-1043.e2 pubmed publisher
    ..expression in thyroid cancer: BLM, CBL, CIITA, EP300, GSTM5, LMO2, PRAME, SBDS, SF1, TET2, TNFAIP3, XPO1, and ZRSR2. This analysis revealed that several previously unreported oncogenic gene mutations exist in thyroid cancers and ..
  19. Gault C, Martin F, Mei W, Bai F, Black J, Barbazuk W, et al. Aberrant splicing in maize rough endosperm3 reveals a conserved role for U12 splicing in eukaryotic multicellular development. Proc Natl Acad Sci U S A. 2017;114:E2195-E2204 pubmed publisher
    ..The maize ROUGH ENDOSPERM3 (RGH3) protein is orthologous to the human splicing factor, ZRSR2. ZRSR2 mutations are associated with myelodysplastic syndrome (MDS) and cause U12 splicing defects...
  20. Sun C, Wang J, Zhou X. [Research Progress on Spliceosome Mutations in Hematopoietic Malignancy]. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2016;24:925-9 pubmed publisher
    ..the structure as well as function of spliceosome are introduced and the common mutations such as SF3B1, U2AF35, SRSF2 and ZRSR2 as well as their frequency, mutation versions, clinical phenotypies and effects on prognosis are discussed.
  21. Almuzian M, Ju X, Almukhtar A, Ayoub A, Al Muzian L, McDonald J. Does rapid maxillary expansion affect nasopharyngeal airway? A prospective Cone Beam Computerised Tomography (CBCT) based study. Surgeon. 2018;16:1-11 pubmed publisher
    ..2% in males and 12% in females). In comparison, the upper retropalatal space (URP) was significantly reduced, by almost one sixth of its original volume, more in males than females, 11.2% and 2...
  22. Gill H, Leung A, Kwong Y. Molecular and Cellular Mechanisms of Myelodysplastic Syndrome: Implications on Targeted Therapy. Int J Mol Sci. 2016;17:440 pubmed publisher
    ..methylation (TET2, DNMT3A, IDH1/2), histone modification (ASXL1, EZH2), the RNA splicing machinery (SF3B1, SRSF2, ZRSR2, U2AF1/2), transcription (RUNX1, TP53, BCOR, PHF6, NCOR, CEBPA, GATA2), tyrosine kinase receptor signaling (JAK2, ..
  23. Zahid M, Patnaik M, Gangat N, Hashmi S, Rizzieri D. Insight into the molecular pathophysiology of myelodysplastic syndromes: targets for novel therapy. Eur J Haematol. 2016;97:313-20 pubmed publisher
    ..interferon-gamma, SMAD proteins), mutations in genes encoding the RNA splicing machinery (SF3B1, SRSF2, ZRSR2, and U2AF1 genes), mutations in genes disrupting the epigenetic machinery (TET2, DNMT3A, DNMT3B, EZH2, ASXL1)...
  24. Albanese I, Daskalopoulou S, Yu B, You Z, Genest J, Alsheikh Ali A, et al. The Urotensin II System and Carotid Atherosclerosis: A Role in Vascular Calcification. Front Pharmacol. 2016;7:149 pubmed publisher
    The aims of the present study were to determine the expression of urotensin II (UII), urotensin-II related peptide (URP), and their receptor (UT) in stable and unstable carotid atherosclerosis, and determine the effects of UII on human ..
  25. Bejar R. Splicing Factor Mutations in Cancer. Adv Exp Med Biol. 2016;907:215-28 pubmed publisher
    ..The most frequent mutations occur in SF3B1, U2AF1, SRSF2, and ZRSR2 and are largely exclusive of each other...
  26. Douchez A, Billard É, Hebert T, Chatenet D, Lubell W. Design, synthesis and biological assessment of biased allosteric modulation of the urotensin II receptor using achiral 1,3,4-benzotriazepin-2-one turn mimics. J Med Chem. 2017;: pubmed publisher
    ..to mimic the suggested bioactive ?-turn conformation of the Bip-Lys-Tyr tripeptide in Urocontrin ([Bip4]URP), which modulates the urotensin II receptor (UT) and differentiates the effects of the endogenous ligands urotensin ..
  27. Kitagawa K, Wang X, Hatada I, Yamaoka T, Nojima H, Inazawa J, et al. Isolation and mapping of human homologues of an imprinted mouse gene U2af1-rs1. Genomics. 1995;30:257-63 pubmed
    ..Amino acid sequences of human U2AF1-RS1 and U2AF-RS2 showed significant homology to U2AF small subunit. The group 3 gene, designated as U2AF1-RS3, of which the cDNA has not yet been isolated, was mapped to chromosome 19p13.2. ..
  28. Strack M, Billard É, Chatenet D, Lubell W. Urotensin core mimics that modulate the biological activity of urotensin-II related peptide but not urotensin-II. Bioorg Med Chem Lett. 2017;27:3412-3416 pubmed publisher
    ..head-to-tail cyclic peptides has been developed and used to prepare two mimics of the urotensin II-related peptide (URP) cyclic core...
  29. Kim Y, Abdel Wahab O. Therapeutic targeting of RNA splicing in myelodysplasia. Semin Hematol. 2017;54:167-173 pubmed publisher
    ..These mutations primarily affect SF3B1, SRSF2, U2AF1, and ZRSR2. Current data suggest that these mutations perturb RNA splicing catalysis in a manner distinct from loss of ..
  30. Fleischman R, Stockton S, Cogle C. Refractory macrocytic anemias in patients with clonal hematopoietic disorders and isolated mutations of the spliceosome gene ZRSR2. Leuk Res. 2017;61:104-107 pubmed publisher
    ..Here we report five unusual patients with an isolated mutation causing a loss of function of ZRSR2, a protein required for recognition of a functional 3' splice site...
  31. Billard É, Letourneau M, Hebert T, Chatenet D. Insight into the role of urotensin II-related peptide tyrosine residue in UT activation. Biochem Pharmacol. 2017;144:100-107 pubmed publisher
    ..g. urotensin II (UII) and urotensin II-related peptide (URP), also exhibit distinct effects that could be explained by distinct interactions with their cognate receptor (UT)...
  32. Ganguly B, Kadam N. Mutations of myelodysplastic syndromes (MDS): An update. Mutat Res Rev Mutat Res. 2016;769:47-62 pubmed publisher
    ..Recent discoveries on mutations in RNA-splicing machinery (SF3B1, SRSF2, ZRSR2, U2AF1, U2AF2); DNA methylation (TET2, DNMT3A, IDH1/2); chromatin modification (ASXL1, EZH2); transcription factor ..
  33. Thol F, Kade S, Schlarmann C, Löffeld P, Morgan M, Krauter J, et al. Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes. Blood. 2012;119:3578-84 pubmed publisher
    ..In the present study, we examined a cohort of 193 MDS patients for mutations in SRSF2, U2AF1 (synonym U2AF35), ZRSR2, and, as described previously, SF3B1, in the context of other molecular markers, including mutations in ASXL1, ..
  34. Shen H, Zheng X, Luecke S, Green M. The U2AF35-related protein Urp contacts the 3' splice site to promote U12-type intron splicing and the second step of U2-type intron splicing. Genes Dev. 2010;24:2389-94 pubmed publisher
    The U2AF35-related protein Urp has been implicated previously in splicing of the major class of U2-type introns. Here we show that Urp is also required for splicing of the minor class of U12-type introns...
  35. Tronchere H, Wang J, Fu X. A protein related to splicing factor U2AF35 that interacts with U2AF65 and SR proteins in splicing of pre-mRNA. Nature. 1997;388:397-400 pubmed
    ..Here we describe the function of a U2AF35-related protein (Urp), which is the human homologue of a mouse imprinted gene...
  36. Ng I, Ng C, Low J, Chiu L, Seah E, Ng C, et al. Identifying large indels in targeted next generation sequencing assays for myeloid neoplasms: a cautionary tale of the ZRSR1 pseudogene. J Clin Pathol. 2017;70:1069-1073 pubmed publisher
    ..patient samples, we highlighted the pitfall of a confounding ZRSR1 pseudogene that led to an erroneous ZRSR2 variant call...
  37. Madan V, Kanojia D, Li J, Okamoto R, Sato Otsubo A, Kohlmann A, et al. Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome. Nat Commun. 2015;6:6042 pubmed publisher
    Somatic mutations in the spliceosome gene ZRSR2-located on the X chromosome-are associated with myelodysplastic syndrome (MDS)...
  38. Brunner B, Todt T, Lenzner S, Stout K, Schulz U, Ropers H, et al. Genomic structure and comparative analysis of nine Fugu genes: conservation of synteny with human chromosome Xp22.2-p22.1. Genome Res. 1999;9:437-48 pubmed
    ..These data suggest that genomic sequencing in Fugu is a powerful and economical strategy to predict gene orders in the human genome and to elucidate the structure of human genes...
  39. Armstrong R, Steeples V, Singh S, Sanchi A, Boultwood J, Pellagatti A. Splicing factor mutations in the myelodysplastic syndromes: target genes and therapeutic approaches. Adv Biol Regul. 2018;67:13-29 pubmed publisher
    Mutations in splicing factor genes (SF3B1, SRSF2, U2AF1 and ZRSR2) are frequently found in patients with myelodysplastic syndromes (MDS), suggesting that aberrant spliceosome function plays a key role in the pathogenesis of MDS...
  40. Hong J, Seo J, Kim S, Jung H, Park S, Kim K, et al. Mutations in the Spliceosomal Machinery Genes SRSF2, U2AF1, and ZRSR2 and Response to Decitabine in Myelodysplastic Syndrome. Anticancer Res. 2015;35:3081-9 pubmed
    ..In recent years, novel recurrent mutations in multiple genes encoding RNA spliceosomal machinery (SRSF2, U2AF1, ZRSR2, SF3B1) were revealed...