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

Summary

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; OFD21; 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

Location:: Xp22.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (15790484..15823260)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (15373416..15406182)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (15808607..15841383)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH71328 (e-PCR)
- UniSTS:44573

D8S2278 (e-PCR)
- UniSTS:473906

NoName (e-PCR)
- UniSTS:483437

RH80911 (e-PCR)
- UniSTS:86723

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

NG_012746.1 RefSeqGene

Range

5001..37810

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_618

mRNA and Protein(s)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

15790484..15823260

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060947.1 Alternate T2T-CHM13v2.0

Range

15373416..15406182

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q86VN0