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8233 ZRSR2

8233

ZRSR2

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

protein-coding

Homo sapiens

基因描述

Type Description
Definition zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2

研究结论

Date Results Publications
2019-12-14 11:31:00 ZRSR2 mutation in a child with refractory macrocytic anemia and Down Syndrome. 31361176
2019-06-15 10:56:00 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. 31124956
2017-10-21 11:15:00 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 28942350
2016-02-13 11:48:00 ZRSR2 has a role in RNA splicing; dysregulated splicing of U12-type introns is a characteristic feature of ZRSR2 mutations in myelodysplastic syndrome 25586593
2015-08-08 11:14:00 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. 25964599

名称对应

Type IDs
Synonymous U2AF1-RS2, U2AF1L2, U2AF1RS2, URP, ZC3H22
Gene
UniProtKB-ID: U2AFM_HUMAN
UniprotKB: Q15696
UniParc: UPI0000137929
EMBL: BC113454, AC004106, AC096510, BC113480, D49677
Ensembl: ENSG00000169249
KO: hsa:8233
Nucleutide sequences
EMBL-CDS: AAI13481.1, BAA08533.1, AAI13455.1
Ensembl_TRS: ENST00000307771
Protein sequencees
Ensembl_PRO: ENSP00000303015
RefSeq: XP_011543891.2, XP_024308223.1, XP_016885370.1, XP_005274654.2, NP_005080.1, XP_016885372.1, XP_024308224.1, XP_016885371.1
Others
UniRef100: UniRef100_Q15696
UniRef90: UniRef90_Q15696
UniRef50: UniRef50_Q15696
UniGene: Hs.171909
CCDS: CCDS14172.1

全选

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