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54413 NLGN3

54413

NLGN3

neuroligin 3

protein-coding

Homo sapiens

基因描述

Type Description
Definition neuroligin 3

研究结论

Date Results Publications
2020-08-01 10:59:00 We report gut symptoms in patients with the autism-associated R451C mutation encoding the neuroligin-3 protein. We show that many of the genes implicated in autism are expressed in mouse gut. The neuroligin-3 R451C mutation alters the enteric nervous system, causes gastrointestinal dysfunction, and disrupts gut microbe populations in mice. 31119867
2020-03-14 12:11:00 Our report of two missense variants affecting the normal localization of NLGN3 in a total of five affected individuals reinforces the involvement of the NLGN3 gene in a neurodevelopmental disorder characterized by ID and ASD. 31184401
2020-01-18 10:24:00 NLGN3 promoted neuroblastoma cell proliferation and growth through activating PI3K/AKT pathway and providing a new target for neuroblastoma therapy 31150649
2019-10-05 10:44:00 the effects of rs1421589 within NRXN1, rs4844285 and rs11795613 within NLGN3, as well as rs5961397 within NLGX4X on Hirschsprung's disease phenotypes were also statistically significant. 29622757
2018-12-22 10:18:00 Wnt/beta-catenin signaling targets the trasncription of the autism-associated Neuroligin 3 gene. 29503438

名称对应

Type IDs
Synonymous HNL3
Gene
UniProtKB-ID: NLGN3_HUMAN, X5D2P6_HUMAN, X5D7L6_HUMAN, X5DNV3_HUMAN, Q4G160_HUMAN, Q6MZK0_HUMAN, B7Z3P8_HUMAN
UniprotKB: Q9NZ94, X5D2P6, X5D7L6, X5DNV3, Q4G160, Q6MZK0, B7Z3P8
UniParc: UPI0001914D1F, UPI000006E386, UPI000006FCBB, UPI000056D3EC, UPI00001BDB9F, UPI0000212310
EMBL: BC051715, AF217413, AK296217, BC028738, AF217411, AF217412, AB040913, BX641059, CH471132, KJ534891, KU178651, KJ534889, AL590764, KJ534890, AK074814, GQ489207, AK314699
Ensembl: ENSG00000196338
KO: hsa:54413
Nucleutide sequences
EMBL-CDS: EAX05309.1, AAF71233.1, EAX05313.1, EAX05310.1, BAC11226.1, EAX05307.1, BAG37248.1, EAX05312.1, AAF71230.1, AAF71232.1, BAA96004.1, AAF71231.1, AAH51715.1, EAX05308.1, ADB12634.1, ALQ34109.1, AHW56529.1, AHW56530.1, AHW56531.1, AAH28738.1, CAE46030.1, BAH12284.1
Ensembl_TRS: ENST00000536169, ENST00000358741, ENST00000374051
Protein sequencees
Ensembl_PRO: ENSP00000363163, ENSP00000351591, ENSP00000445298
RefSeq: NP_851820.1, XP_016885086.1, XP_011529276.1, NP_001160132.1, XP_006724726.1, XP_006724725.2, NP_061850.2, NP_001308205.1
Others
UniRef100: UniRef100_Q9NZ94, UniRef100_Q9NZ94-2, UniRef100_Q4G160, UniRef100_Q6MZK0, UniRef100_Q9NZ94-3
UniRef90: UniRef90_Q62889-4, UniRef90_A0A2K6P613, UniRef90_Q9NZ94, UniRef90_A0A452V896
UniRef50: UniRef50_A0A1A8DLJ8, UniRef50_A0A2K6P613, UniRef50_Q62889-3
UniGene: Hs.438877
CCDS: CCDS55442.1, CCDS55441.1, CCDS14407.1

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