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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 16-Apr-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
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Genomic context

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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

    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

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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