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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
- HGNC: 23019
- Entrez Gene: 8233
- Ensembl: ENSG00000169249
- OMIM: 300028
- UniProtKB: Q15696
Previous HGNC Symbols for ZRSR2 Gene
- U2AF1L2
Previous GeneCards Identifiers for ZRSR2 Gene
- GC0XP015719
- GC0XP015720
- GC0XP015808
- GC0XP013562
Summaries 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]
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.
Additional gene information for ZRSR2 Gene
- HGNC(23019)
- Entrez Gene(8233)
- Ensembl(ENSG00000169249)
- OMIM(300028)
- UniProtKB(Q15696)
- Open Targets Platform(ENSG00000169249)
- Search for ZRSR2 at DataMed
- Search for ZRSR2 at HumanCyc
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
- 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:
-
- Xp22.2 by HGNC
- Xp22.2 by Entrez Gene
- Xp22.2 by Ensembl
ZRSR2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for ZRSR2 Gene
Post-translational modifications for ZRSR2 Gene
- Phosphorylated in the RS domain by SRPK1.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for ZRSR2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for ZRSR2
-
Abcam antibodies for ZRSR2
- Invitrogen Antibodies for ZRSR2 (AFLGC-ZRSR2)
Protein Products
-
OriGene Purified Proteins for ZRSR2
- Search Origene for MassSpec and Protein Over-expression Lysates for ZRSR2
- Origene Custom Protein Services for ZRSR2
-
Abcam proteins for ZRSR2
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)
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
| 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 | -- |
Phenotypes for ZRSR2 Gene
Animal Model Products
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CRISPR Products
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-
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-
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miRNA Products
Inhibitory RNA Products
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Clone Products
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- Sino Biological Human cDNA Clone for ZRSR2
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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
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| 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 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ZRSR2 Gene
Pathways & Interactions for ZRSR2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | mRNA Splicing - Major Pathway |
.79
|
|
| 2 | Gene Expression |
.48
|
|
| 3 | mRNA Splicing - Minor Pathway | ||
Pathways by source for ZRSR2 Gene
4 Reactome pathways for ZRSR2 Gene
Interacting Proteins for ZRSR2 Gene
Selected Interacting proteins:
Q15696-U2AFM_HUMAN
ENSP00000303015
for ZRSR2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for ZRSR2
| 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 |
No data available for SIGNOR curated interactions for ZRSR2 Gene
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 :
-
- ENST00000307771 1491 nts (view in UCSC)
- ENST00000380308 744 nts (view in UCSC)
- ENST00000468028 365 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ZRSR2 - Select products 50% OFF >
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-
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-
Santa Cruz Biotechnology (SCBT) CRISPR for ZRSR2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ZRSR2
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Clone Products
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- Sino Biological Human cDNA Clone for ZRSR2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ZRSR2
Relevant External Links for ZRSR2 Gene
- GeneLoc Exon Structure for
- ZRSR2
Expression 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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZRSR2
SOURCE GeneReport for Unigene cluster for ZRSR2 Gene:
Hs.171909mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for ZRSR2
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ZRSR2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ZRSR2 30 |
|
||
| -- 31 |
|
ManyToMany | |||
| Cow (Bos Taurus) |
Mammalia | ZRSR2 30 |
|
||
| -- 31 |
|
ManyToMany | |||
| Rat (Rattus norvegicus) |
Mammalia | Zrsr2 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Zrsr2 30 17 31 |
|
ManyToMany | |
| Zrsr1 31 |
|
ManyToMany | |||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| Chicken (Gallus gallus) |
Aves | ZRSR2 30 |
|
||
| -- 31 |
|
OneToMany | |||
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | zrsr2 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.19556 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | zrsr2 30 31 |
|
OneToMany | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG3294 31 |
|
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
(32) SIMAP similar genes for ZRSR2 Gene using alignment to 3 proteins:
- U2AFM_HUMAN
- A6NDW0_HUMAN
- Q86VN0_HUMAN
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 |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2229e212 | CNV | gain | 25503493 |
| esv3573606 | CNV | loss | 25503493 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZRSR2 Gene
Disorders for ZRSR2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| macrocytic anemia |
|
|
| microcephalic osteodysplastic primordial dwarfism, type i |
|
|
| atypical chronic myeloid leukemia |
|
|
| myelodysplastic syndrome |
|
|
| chronic leukemia |
|
|
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
No data available for UniProtKB/Swiss-Prot and Genatlas for ZRSR2 Gene
Publications for ZRSR2 Gene
- 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
- 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
- Isolation and mapping of human homologues of an imprinted mouse gene U2af1-rs1. (PMID: 8586425) Kitagawa K … Murata A (Genomics 1995) 2 3 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
- 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
ExternalLinks
Products for ZRSR2 Gene
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Sources for ZRSR2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
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