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9758 FRMPD4

9758

FRMPD4

FERM and PDZ domain containing 4

protein-coding

Homo sapiens

基因描述

Type Description
Definition FERM and PDZ domain containing 4

研究结论

Date Results Publications
2021-03-13 13:22:00 Structure of the FERM domain of a neural scaffold protein FRMPD4 implicated in X-linked intellectual disability. 33216857
2019-01-12 11:25:00 The findings point to an important role of FRMPD4 in normal cognitive development and function in humans and mice, and support the hypothesis that FRMPD4 mutations cause ID by disrupting dendritic spine morphogenesis in glutamatergic neurons. 29267967
2016-09-03 11:41:00 Study suggests that the variant rs5979717 in FRMPD4 may play a role in schizophrenia etiology in females 26555035
2015-11-07 11:36:00 A crystal structure of Frmpd4-bound LGN in an oxidized form is also reported, although oxidation does not appear to strongly affect the interaction with Frmpd4. 25664792
2010-10-22 12:44:00 Preso positively regulates spine density through its interaction with the synaptic plasma membrane, actin filaments, PSD-95, and the betaPix-based Rac1 signaling pathway. 19118189

名称对应

Type IDs
Synonymous MRX104, PDZD10, PDZK10
Gene
UniProtKB-ID: FRPD4_HUMAN
UniprotKB: Q14CM0
UniParc: UPI00001C2066
EMBL: AB002314, BC113700, BC113702, AK289694
Ensembl: ENSG00000169933
KO: hsa:9758
Nucleutide sequences
EMBL-CDS: AAI13701.1, AAI13703.1, BAF82383.1, BAA20774.3
Ensembl_TRS: ENST00000380682
Protein sequencees
Ensembl_PRO: ENSP00000370057
RefSeq: NP_001355325.1, XP_016885472.1, NP_001355324.1, XP_016885474.1, NP_001355331.1, NP_001355327.1, NP_001355329.1, NP_001355328.1, NP_055543.2, XP_005274689.2, XP_016885473.1, NP_001355326.1, NP_001355330.1
Others
UniRef100: UniRef100_Q14CM0
UniRef90: UniRef90_Q14CM0
UniRef50: UniRef50_Q14CM0
UniGene: Hs.657507
CCDS: CCDS35201.1

全选

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