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    ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 [ Homo sapiens (human) ]

    Gene ID: 8233, updated on 17-Jun-2024

    Summary

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    Official Symbol
    ZRSR2provided by HGNC
    Official Full Name
    zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2provided by HGNC
    Primary source
    HGNC:HGNC:23019
    See related
    Ensembl:ENSG00000169249 MIM:300028; AllianceGenome:HGNC:23019
    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
    URP; ZC3H22; U2AF1L2; U2AF1RS2; U2AF1-RS2
    Summary
    This gene encodes an essential splicing factor. The encoded protein associates with the U2 auxiliary factor heterodimer, which is required for the recognition of a functional 3' splice site in pre-mRNA splicing, and may play a role in network interactions during spliceosome assembly. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in lymph node (RPKM 3.8), spleen (RPKM 3.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZRSR2 in Genome Data Viewer
    Location:
    Xp22.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (15790484..15823260)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (15373416..15406182)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (15808607..15841383)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene CA5BP1-CA5B readthrough Neighboring gene small nucleolar RNA SNORA7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20673 Neighboring gene NANOG hESC enhancer GRCh37_chrX:15765293-15766154 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:15770987-15771772 Neighboring gene carbonic anhydrase 5B Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:15787311-15788154 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29449 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29450 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29451 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:15809593-15810094 Neighboring gene inactivation escape 2 Neighboring gene adaptor related protein complex 1 subunit sigma 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20674 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:15872970-15873574 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:15926789-15927701 Neighboring gene RNA, U5F small nuclear 7, pseudogene

    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
    • 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. Sex-Biased ZRSR2 Mutations in Myeloid Malignancies Impair Plasmacytoid Dendritic Cell Activation and Apoptosis. Togami K, et al. Cancer Discov, 2022 Feb. PMID 34615655, Free PMC Article
    2. ZRSR2 overexpression is a frequent and early event in castration-resistant prostate cancer development. He H, et al. Prostate Cancer Prostatic Dis, 2021 Sep. PMID 33568749, Free PMC Article
    3. ZRSR2 mutation in a child with refractory macrocytic anemia and Down Syndrome. Srinath M, et al. Pediatr Hematol Oncol, 2019 May. PMID 31361176
    4. Refractory macrocytic anemias in patients with clonal hematopoietic disorders and isolated mutations of the spliceosome gene ZRSR2. Fleischman RA, et al. Leuk Res, 2017 Oct. PMID 28942350
    5. 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. Shen H, et al. Genes Dev, 2010 Nov 1. PMID 21041408, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.
      Title: Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.
    2. Global analysis of binding sites of U2AF1 and ZRSR2 reveals RNA elements required for mutually exclusive splicing by the U2- and U12-type spliceosome.
      Title: Global analysis of binding sites of U2AF1 and ZRSR2 reveals RNA elements required for mutually exclusive splicing by the U2- and U12-type spliceosome.
    3. Sex-Biased ZRSR2 Mutations in Myeloid Malignancies Impair Plasmacytoid Dendritic Cell Activation and Apoptosis.
      Title: Sex-Biased ZRSR2 Mutations in Myeloid Malignancies Impair Plasmacytoid Dendritic Cell Activation and Apoptosis.
    4. ZRSR2 overexpression is a frequent and early event in castration-resistant prostate cancer development.
      Title: ZRSR2 overexpression is a frequent and early event in castration-resistant prostate cancer development.
    5. ZRSR2 mutation in a child with refractory macrocytic anemia and Down Syndrome.
      Title: ZRSR2 mutation in a child with refractory macrocytic anemia and Down Syndrome.
    6. This meta-analysis indicates a positive effect of SF3B1 and an adverse prognostic effect of SRSF2, U2AF1, and ZRSR2 mutations in patients with myelodysplastic syndrome.
      Title: Effect of RNA splicing machinery gene mutations on prognosis of patients with MDS: A meta-analysis.
    7. We conclude that the common clinical features of patients with an isolated mutation of ZRSR2 are a macrocytic anemia without leukopenia, thrombocytopenia or an increase in marrow blast percentage
      Title: Refractory macrocytic anemias in patients with clonal hematopoietic disorders and isolated mutations of the spliceosome gene ZRSR2.
    8. ZRSR2 has a role in RNA splicing; dysregulated splicing of U12-type introns is a characteristic feature of ZRSR2 mutations in myelodysplastic syndrome
      Title: Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome.
    9. The mutational status of the SRSF2, U2AF1 and ZRSR2 did not affect the response rate or survival in MDS patients who had received first-line decitabine treatment.
      Title: Mutations in the Spliceosomal Machinery Genes SRSF2, U2AF1, and ZRSR2 and Response to Decitabine in Myelodysplastic Syndrome.
    10. In univariate analysis, mutated SRSF2 predicted shorter overall survival and more frequent acute myeloid leukemia progression compared with wild-type SRSF2, whereas mutated U2AF1, ZRSR2 had no impact on patient outcome.
      Title: Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    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

    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

    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

    Clone Names

    • MGC142014, MGC142040

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    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 RNA splicing IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mRNA splicing, via spliceosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spliceosomal complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of U12-type spliceosomal complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of U2AF complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    part_of spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2
    Names
    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

    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_012746.1 RefSeqGene

      Range
      5001..37810
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_618

    mRNA and Protein(s)

    1. NM_005089.4 → NP_005080.1  U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2

      See identical proteins and their annotated locations for NP_005080.1

      Status: REVIEWED

      Source sequence(s)
      BC113480
      Consensus CDS
      CCDS14172.1
      UniProtKB/Swiss-Prot
      Q14D69, Q15696
      UniProtKB/TrEMBL
      Q86VN0
      Related
      ENSP00000303015.7, ENST00000307771.8
      Conserved Domains (2) summary
      cd12540
      Location:199 → 303
      RRM_U2AFBPL; RNA recognition motif in U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1 (U2AFBPL) and similar proteins
      pfam00642
      Location:167 → 191
      zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      15790484..15823260
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545589.4 → XP_011543891.3  U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2 isoform X1

      UniProtKB/TrEMBL
      Q86VN0
      Related
      ENSP00000510773.1, ENST00000684799.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      15373416..15406182
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327930.1 → XP_054183905.1  U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2 isoform X1

      UniProtKB/TrEMBL
      Q86VN0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15696.2 GenPept UniProtKB/Swiss-Prot:Q15696

    Gene LinkOut

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