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] See more...

Aliases for ZRSR2 Gene

Aliases for ZRSR2 Gene

  • Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2 2 3 5
  • U2(RNU2) Small Nuclear RNA Auxiliary Factor 1-Like 2 2 3 4
  • U2AF1-RS2 2 3 4
  • URP 2 3 4
  • U2 Small Nuclear Ribonucleoprotein Auxiliary Factor 35 KDa Subunit-Related Protein 2 3 4
  • Renal Carcinoma Antigen NY-REN-20 3 4
  • U2AF35-Related Protein 3 4
  • U2AF1RS2 3 4
  • U2AF1L2 3 4
  • ZC3H22 2 3
  • CCCH Type Zinc Finger, RNA-Binding Motif And Serine/Arginine Rich Protein 2 4
  • Zinc Finger (CCCH Type), RNA Binding Motif And Serine/Arginine Rich 2 3
  • U2 Small Nuclear Ribonucleoprotein Auxiliary Factor, Small Subunit 2 3
  • U2 Small Nuclear RNA Auxiliary Factor 1-Like 2 2
  • ZRSR2 5

External Ids for ZRSR2 Gene

Previous HGNC Symbols for ZRSR2 Gene

  • U2AF1L2

Previous GeneCards Identifiers for ZRSR2 Gene

  • GC0XP015719
  • GC0XP015720
  • GC0XP015808
  • GC0XP013562

Summaries for ZRSR2 Gene

Entrez Gene Summary for ZRSR2 Gene

  • 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]

CIViC Summary for ZRSR2 Gene

GeneCards Summary for ZRSR2 Gene

ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2) is a Protein Coding gene. Diseases associated with ZRSR2 include Macrocytic Anemia and Microcephalic Osteodysplastic Primordial Dwarfism, Type I. Among its related pathways are mRNA Splicing - Minor Pathway and Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is U2AF1.

UniProtKB/Swiss-Prot Summary for ZRSR2 Gene

  • Pre-mRNA-binding protein required for splicing of both U2- and U12-type introns. Selectively interacts with the 3'-splice site of U2- and U12-type pre-mRNAs and promotes different steps in U2 and U12 intron splicing. Recruited to U12 pre-mRNAs in an ATP-dependent manner and is required for assembly of the prespliceosome, a precursor to other spliceosomal complexes. For U2-type introns, it is selectively and specifically required for the second step of splicing.

Gene Wiki entry for ZRSR2 Gene

Additional gene information for ZRSR2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZRSR2 Gene

Genomics for ZRSR2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZRSR2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ015789 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 611.6 +0.4 420 2.6 CREB1 PRDM10 ZNF629 RFX1 POLR2A BACH1 LARP7 ZNF143 RBFOX2 PKNOX1 ZRSR2 NONHSAG054084.2 CA5B CA5BP1 VEGFD RF00017-8175 AP1S2
GH0XJ015902 Enhancer 1.2 FANTOM5 Ensembl ENCODE 40.7 +121.0 121029 19.4 SOX13 IKZF1 KDM1A ETV6 STAT3 RELA POLR2A TCF12 IKZF2 PKNOX1 ZRSR2 AP1S2 RF00020-027 RNU5F-7P SETP15 lnc-ZRSR2-4 piR-61514-215 GRPR
GH0XJ015883 Enhancer 1 Ensembl ENCODE 41.9 +92.5 92529 2 RFX1 DDX20 ZNF740 TRIM22 YY1 ZSCAN29 GTF2E2 ZNF766 DPF2 RUNX3 ZRSR2 CTPS2 TXLNG piR-61514-215 AP1S2 RF00020-027 RNU5F-7P GRPR
GH0XJ015748 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 27.5 -38.3 -38306 6.8 PRDM10 PRDM1 PKNOX1 KLF7 ZXDB ZSCAN5C ATF2 ELF1 GATA3 SPI1 CA5B ZRSR2 CA5BP1 PIGA CLTRN piR-57845-022 lnc-AP1S2-1 CA5BP1-CA5B
GH0XJ015852 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 14.6 +63.9 63944 5.6 CREB1 HNRNPL PRDM10 REST ZNF629 TFE3 IKZF1 ZNF692 POLR2A JUND AP1S2 lnc-ZRSR2-5 GRPR ZRSR2 CA5B lnc-CLTRN-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZRSR2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZRSR2

Top Transcription factor binding sites by QIAGEN in the ZRSR2 gene promoter:
  • Cart-1
  • En-1
  • HFH-1
  • Pax-2
  • Pax-2a
  • Pbx1a
  • POU2F1
  • POU2F1a
  • RSRFC4
  • S8

Genomic Locations for ZRSR2 Gene

Genomic Locations for ZRSR2 Gene
chrX:15,790,472-15,826,807
(GRCh38/hg38)
Size:
36,336 bases
Orientation:
Plus strand
chrX:15,808,574-15,841,383
(GRCh37/hg19)
Size:
32,810 bases
Orientation:
Plus strand

Genomic View for ZRSR2 Gene

Genes around ZRSR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZRSR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZRSR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZRSR2 Gene

Proteins for ZRSR2 Gene

  • Protein details for ZRSR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15696-U2AFM_HUMAN
    Recommended name:
    U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2
    Protein Accession:
    Q15696
    Secondary Accessions:
    • Q14D69

    Protein attributes for ZRSR2 Gene

    Size:
    482 amino acids
    Molecular mass:
    58045 Da
    Quaternary structure:
    • Component of the U11/U12 snRNPs that are part of the U12-type spliceosome. Interacts (via RS domain) with SRSF1 and SRSF2. Interacts with U2AF2/U2AF65.

neXtProt entry for ZRSR2 Gene

Post-translational modifications for ZRSR2 Gene

No data available for DME Specific Peptides for ZRSR2 Gene

Domains & Families for ZRSR2 Gene

Gene Families for ZRSR2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for ZRSR2 Gene

InterPro:
Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)
  • Zn-finger, C-x8-C-x5-C-x3-H type
  • U2 auxiliary factor small subunit signature
ProtoNet:

Suggested Antigen Peptide Sequences for ZRSR2 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 (Q86VN0_HUMAN)
  • U2AF35-related protein (U2AFM_HUMAN)
genes like me logo Genes that share domains with ZRSR2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ZRSR2 Gene

Function for ZRSR2 Gene

Molecular function for ZRSR2 Gene

UniProtKB/Swiss-Prot Function:
Pre-mRNA-binding protein required for splicing of both U2- and U12-type introns. Selectively interacts with the 3'-splice site of U2- and U12-type pre-mRNAs and promotes different steps in U2 and U12 intron splicing. Recruited to U12 pre-mRNAs in an ATP-dependent manner and is required for assembly of the prespliceosome, a precursor to other spliceosomal complexes. For U2-type introns, it is selectively and specifically required for the second step of splicing.

Phenotypes From GWAS Catalog for ZRSR2 Gene

Gene Ontology (GO) - Molecular Function for ZRSR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 9237760
GO:0030628 pre-mRNA 3'-splice site binding IDA 21041408
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZRSR2: view
genes like me logo Genes that share phenotypes with ZRSR2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZRSR2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ZRSR2 Gene

Localization for ZRSR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZRSR2 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 ZRSR2 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ZRSR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IBA 21873635
GO:0005689 U12-type spliceosomal complex IDA 15146077
GO:0089701 U2AF IBA 21873635
genes like me logo Genes that share ontologies with ZRSR2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ZRSR2 Gene

Pathways & Interactions for ZRSR2 Gene

genes like me logo Genes that share pathways with ZRSR2: view

Pathways by source for ZRSR2 Gene

Gene Ontology (GO) - Biological Process for ZRSR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000245 spliceosomal complex assembly IMP 21041408
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IC 15146077
genes like me logo Genes that share ontologies with ZRSR2: view

No data available for SIGNOR curated interactions for ZRSR2 Gene

Drugs & Compounds for ZRSR2 Gene

No Compound Related Data Available

Transcripts for ZRSR2 Gene

mRNA/cDNA for ZRSR2 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZRSR2

Alternative Splicing Database (ASD) splice patterns (SP) for ZRSR2 Gene

No ASD Table

Relevant External Links for ZRSR2 Gene

GeneLoc Exon Structure for
ZRSR2

Expression for ZRSR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZRSR2 Gene

Protein differential expression in normal tissues from HIPED for ZRSR2 Gene

This gene is overexpressed in Liver (62.5) and Peripheral blood mononuclear cells (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZRSR2 Gene



Protein tissue co-expression partners for ZRSR2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZRSR2

SOURCE GeneReport for Unigene cluster for ZRSR2 Gene:

Hs.171909

mRNA Expression by UniProt/SwissProt for ZRSR2 Gene:

Q15696-U2AFM_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for ZRSR2 Gene

  • Nervous system(4.5)
  • Bone marrow(2.8)
  • Spleen(2.4)
  • Intestine(2.2)
  • Kidney(2.1)
  • Muscle(2.1)
  • Liver(2.1)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with ZRSR2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZRSR2 Gene

Orthologs for ZRSR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZRSR2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ZRSR2 30 31
  • 99.52 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ZRSR2 30
  • 88.59 (n)
-- 31
  • 65 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia ZRSR2 30
  • 87.72 (n)
-- 31
  • 85 (a)
ManyToMany
Rat
(Rattus norvegicus)
Mammalia Zrsr2 30
  • 84.58 (n)
Mouse
(Mus musculus)
Mammalia Zrsr2 30 17 31
  • 82.57 (n)
ManyToMany
Zrsr1 31
  • 75 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 75 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 74 (a)
OneToMany
Chicken
(Gallus gallus)
Aves ZRSR2 30
  • 72.65 (n)
-- 31
  • 71 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 69 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia zrsr2 30
  • 66.32 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19556 30
Zebrafish
(Danio rerio)
Actinopterygii zrsr2 30 31
  • 64.01 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG3294 31
  • 28 (a)
OneToMany
Species where no ortholog for ZRSR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • 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)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ZRSR2 Gene

ENSEMBL:
Gene Tree for ZRSR2 (if available)
TreeFam:
Gene Tree for ZRSR2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZRSR2: view image

Paralogs for ZRSR2 Gene

Paralogs for ZRSR2 Gene

genes like me logo Genes that share paralogs with ZRSR2: view

Variants for ZRSR2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZRSR2 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
773378 Benign: not provided 15,820,288(+) C/T SYNONYMOUS_VARIANT
rs188867560 Not Provided: not specified 15,803,767(+) G/A MISSENSE_VARIANT
rs587778765 Not Provided: not specified 15,823,096(+) CG/AT MISSENSE_VARIANT
rs587778766 Not Provided: not specified 15,823,100(+) G/A MISSENSE_VARIANT
rs587778767 Not Provided: not specified 15,815,867(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ZRSR2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZRSR2 Gene

Variant ID Type Subtype PubMed ID
dgv2229e212 CNV gain 25503493
esv3573606 CNV loss 25503493

Variation tolerance for ZRSR2 Gene

Residual Variation Intolerance Score: 56.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.92; 48.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZRSR2 Gene

Human Gene Mutation Database (HGMD)
ZRSR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZRSR2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZRSR2 Gene

Disorders for ZRSR2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for ZRSR2 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ZRSR2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ZRSR2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ZRSR2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZRSR2 Gene

Publications for ZRSR2 Gene

  1. The human 18S U11/U12 snRNP contains a set of novel proteins not found in the U2-dependent spliceosome. (PMID: 15146077) Will CL … Lührmann R (RNA (New York, N.Y.) 2004) 2 3 4
  2. A protein related to splicing factor U2AF35 that interacts with U2AF65 and SR proteins in splicing of pre-mRNA. (PMID: 9237760) Tronchère H … Fu XD (Nature 1997) 2 3 4
  3. Isolation and mapping of human homologues of an imprinted mouse gene U2af1-rs1. (PMID: 8586425) Kitagawa K … Murata A (Genomics 1995) 2 3 4
  4. 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. (PMID: 21041408) Shen H … Green MR (Genes & development 2010) 3 4
  5. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PMID: 19204726) Chapuis J … Lambert JC (Molecular psychiatry 2009) 3 41

Products for ZRSR2 Gene

Sources for ZRSR2 Gene