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23224 SYNE2

23224

SYNE2

spectrin repeat containing nuclear envelope protein 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition spectrin repeat containing nuclear envelope protein 2

研究结论

Date Results Publications
2021-02-02 13:23:00 A novel SYNE2 mutation identified by whole exome sequencing in a Korean family with Emery-Dreifuss muscular dystrophy. 32184094
2020-11-21 13:12:00 Nesprin-1-alpha2 associates with kinesin at myotube outer nuclear membranes, but is restricted to neuromuscular junction nuclei in adult muscle. 31578382
2020-01-04 11:49:00 Results indicate that sperm associated antigen 4 transcript isoform interacts with spectrin repeat containing nuclear envelope protein 2 (Nesprin2) in the meiotic process. 31144711
2019-11-30 11:44:00 CRISPR/Cas9-mediated knockout of Syne-2 in cell culture led to an overexpression and mislocalization of Pcnt and to ciliogenesis defects. This suggests that the Pcnt-Syne-2 complex is important for ciliogenesis and outer segment formation during retinal development and plays a role in nuclear migration. 30054381
2019-01-19 11:33:00 Study shows that modulation of matrix pore size or of lamin A expression known to modulate nuclear stiffness directly impinges on levels of MT1-MMP-mediated pericellular collagenolysis by cancer cells. This response requires an intact connection between the nucleus and the centrosome via the linker of nucleoskeleton and cytoskeleton (LINC) complex protein nesprin-2 and dynein adaptor Lis1. 29934494

名称对应

Type IDs
Synonymous EDMD5, KASH2, NUA, NUANCE, Nesp2, Nesprin-2, SYNE-2, TROPH
Gene
UniProtKB-ID: SYNE2_HUMAN, Q6MZP0_HUMAN
UniprotKB: Q8WXH0, Q6MZP0
UniParc: UPI000007012B, UPI000000D884, UPI0005A5D025, UPI0000071855, UPI000018DB96, UPI00001AE803, UPI00001B0452, UPI00001BDC4C, UPI00017A77D7, UPI000000D9C7, UPI0005A5D029, UPI00003677E5, UPI00017A771A, UPI00000728C5
EMBL: AY184205, BC071873, AK297874, CD654909, AK074055, AF495911, BC042134, BX640974, AY061759, AY061758, AF435011, AB023228, AL080133, JQ754367, AY184204, AF435010, AK298465, AL162832, AK090430, AK095241, BM805144, AY061757, AL355094, AL359235, AL117404
Ensembl: ENSG00000054654
KO: hsa:23224
Nucleutide sequences
EMBL-CDS: CAB55905.2, AAH71873.1, BAG60199.1, AAL33801.1, AAO27772.1, BAG60678.1, AAN60443.1, AAO27773.1, AAL33547.1, AAL33802.1, BAC03411.1, AAL33800.1, BAA76855.3, CAB45729.1, BAB84881.1, AFN44385.1, AAL33548.1, BAC04506.1, AAH42134.1, CAE45988.1
Ensembl_TRS: ENST00000358025, ENST00000341472, ENST00000344113, ENST00000458046
Protein sequencees
Ensembl_PRO: ENSP00000341781, ENSP00000344528, ENSP00000391937, ENSP00000350719
RefSeq: XP_005267511.1, XP_005267514.1, XP_011534877.1, XP_011534882.1, NP_878914.1, XP_011534881.1, XP_011534880.1, XP_016876591.1, XP_005267515.1, NP_055995.4, XP_005267513.1, XP_011534883.1, XP_011534878.1, XP_016876593.1, XP_011534886.1, NP_878917.1, XP_016876590.1, XP_005267516.1, NP_878918.2, XP_011534876.1, XP_011534884.1, XP_011534879.1, XP_016876592.1
Others
UniRef100: UniRef100_Q8WXH0, UniRef100_A0A0C4DGK3
UniRef90: UniRef90_Q8WXH0
UniRef50: UniRef50_Q8WXH0
UniGene: Hs.745014
CCDS: CCDS45125.1, CCDS45124.1, CCDS9761.2, CCDS41963.1

全选

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