ZRSR2 (zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2)

2012-06-01  

Identity

HGNC
LOCATION
Xp22.2
LOCUSID
ALIAS
U2AF1-RS2,U2AF1L2,U2AF1RS2,URP,ZC3H22
FUSION GENES

Other Information

Locus ID:

NCBI: 8233
MIM: 300028
HGNC: 23019
Ensembl: ENSG00000169249

Variants:

dbSNP: 8233
ClinVar: 8233
TCGA: ENSG00000169249
COSMIC: ZRSR2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169249ENST00000307771Q15696
ENSG00000169249ENST00000380308A6NDW0

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Minor PathwayREACTOMER-HSA-72165

References

Pubmed IDYearTitleCitations
380882042024Global analysis of binding sites of U2AF1 and ZRSR2 reveals RNA elements required for mutually exclusive splicing by the U2- and U12-type spliceosome.0
381588572024Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.0
380882042024Global analysis of binding sites of U2AF1 and ZRSR2 reveals RNA elements required for mutually exclusive splicing by the U2- and U12-type spliceosome.0
381588572024Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.0
346156552022Sex-Biased ZRSR2 Mutations in Myeloid Malignancies Impair Plasmacytoid Dendritic Cell Activation and Apoptosis.36
346156552022Sex-Biased ZRSR2 Mutations in Myeloid Malignancies Impair Plasmacytoid Dendritic Cell Activation and Apoptosis.36
335687492021ZRSR2 overexpression is a frequent and early event in castration-resistant prostate cancer development.0
335687492021ZRSR2 overexpression is a frequent and early event in castration-resistant prostate cancer development.0
311249562019Effect of RNA splicing machinery gene mutations on prognosis of patients with MDS: A meta-analysis.5
313611762019ZRSR2 mutation in a child with refractory macrocytic anemia and Down Syndrome.1
311249562019Effect of RNA splicing machinery gene mutations on prognosis of patients with MDS: A meta-analysis.5
313611762019ZRSR2 mutation in a child with refractory macrocytic anemia and Down Syndrome.1
289423502017Refractory macrocytic anemias in patients with clonal hematopoietic disorders and isolated mutations of the spliceosome gene ZRSR2.6
289423502017Refractory macrocytic anemias in patients with clonal hematopoietic disorders and isolated mutations of the spliceosome gene ZRSR2.6
255865932015Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome.113

Citation

Dessen P

ZRSR2 (zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2)

Atlas Genet Cytogenet Oncol Haematol. 2012-06-01

Online version: http://atlasgeneticsoncology.org/gene/52759/zrsr2