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3188 HNRNPH2

3188

HNRNPH2

heterogeneous nuclear ribonucleoprotein H2

protein-coding

Homo sapiens

基因描述

Type Description
Definition heterogeneous nuclear ribonucleoprotein H2

研究结论

Date Results Publications
2021-01-02 12:48:00 Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2. 31670473
2018-07-23 13:14:00 Results from a study on gene expression variability markers in early-stage human embryos shows that HNRNPH2 is a putative marker for the 3-day, 8-cell embryo stage. 26288249
2017-05-06 10:16:00 identification of six females from independent families with a common neurodevelopmental phenotype including developmental delay, intellectual disability, autism, hypotonia, and seizures, all with de novo predicted deleterious variants in the nuclear localization signal of Heterogeneous Nuclear Ribonucleoprotein H2, encoded by HNRNPH2, a gene located on the X chromosome 27545675
2014-08-09 10:31:00 Data indicate that armadillo repeat protein ARVCF interacts with the splicing factors the splicing factor SRSF1 (SF2/ASF), the RNA helicase p68 (DDX5), and the heterogeneous nuclear ribonucleoprotein hnRNP H2. 24644279
2011-03-26 10:23:00 altered function of hnRNP H1/H2 in tumor cells is a novel determinant of aberrant thymidine phosphorylase splicing thereby resulting in acquired chemoresistance to TP-activated fluoropyrimidine anticancer drugs. 21068389

名称对应

Type IDs
Synonymous FTP3, HNRPH', HNRPH2, MRXSB, NRPH2, hnRNPH'
Gene
UniProtKB-ID: HNRH2_HUMAN, A0A384MDT2_HUMAN
UniprotKB: P55795, A0A384MDT2
UniParc: UPI0000134537
EMBL: AL035422, GQ891454, BC130343, BC130345, CH471115, U01923, U78027
Ensembl: ENSG00000126945
KO: hsa:3188
Nucleutide sequences
EMBL-CDS: EAX02864.1, AAB64202.1, AAI30344.1, AAI30346.1, ADO22316.1
Ensembl_TRS: ENST00000316594
Protein sequencees
Ensembl_PRO: ENSP00000361927
RefSeq: NP_001027565.1, NP_062543.1
Others
UniRef100: UniRef100_P55795
UniRef90: UniRef90_P55795
UniRef50: UniRef50_P55795
UniGene: Hs.432485
CCDS: CCDS14485.1

全选

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