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1785 DNM2

1785

DNM2

dynamin 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition dynamin 2

研究结论

Date Results Publications
2021-01-23 13:03:00 Dynamin-2 R465W mutation induces long range perturbation in highly ordered oligomeric structures. 33097808
2021-01-23 13:00:00 Dynamin 2 interacts with alpha-actinin 4 to drive tumor cell invasion. 31967944
2020-12-19 13:40:00 A DNM2 Centronuclear Myopathy Mutation Reveals a Link between Recycling Endosome Scission and Autophagy. 32315611
2020-10-24 13:57:00 Mechanistic study of PpIX accumulation using the JFCR39 cell panel revealed a role for dynamin 2-mediated exocytosis. 31209282
2020-06-27 12:29:00 Expression of WT and CNM mutants recreate a CNM-like phenotype, suggesting CNM mutations are gain-of-function. Histological, ultrastructural and molecular analyses pointed to key pathways uncovering the different pathomechanisms involved in centronuclear myopathy or Charcot-Marie-Tooth neuropathy linked to DNM2 mutations. 31628461

名称对应

Type IDs
Synonymous CMT2M, CMTDI1, CMTDIB, DI-CMTB, DYN2, DYNII, LCCS5
Gene
UniProtKB-ID: DYN2_HUMAN, Q8N1K8_HUMAN
UniprotKB: P50570, Q8N1K8
UniParc: UPI000049A626, UPI0000073F35, UPI0000203350, UPI0001DAFE3F, UPI000049A627, UPI00001B0788
EMBL: BC054501, L36983, AC011554, AK289831, AK312260, BC039596, AC011552, AK097875, AC112707, AC007229, AC011475
Ensembl: ENSG00000079805
KO: hsa:1785
Nucleutide sequences
EMBL-CDS: AAD23604.1, BAF82520.1, AAA88025.1, AAH54501.1, AAH39596.1, BAC05190.1
Ensembl_TRS: ENST00000359692, ENST00000355667, ENST00000585892, ENST00000389253, ENST00000408974
Protein sequencees
Ensembl_PRO: ENSP00000386192, ENSP00000468734, ENSP00000352721, ENSP00000373905, ENSP00000347890
RefSeq: NP_001005361.1, NP_001005362.1, NP_004936.2, NP_001005360.1, NP_001177645.1
Others
UniRef100: UniRef100_Q8N1K8, UniRef100_P50570
UniRef90: UniRef90_P50570, UniRef90_A0A3Q2HE09
UniRef50: UniRef50_P50570, UniRef50_T1SXK0
UniGene: Hs.211463
CCDS: CCDS45969.1, CCDS45968.1, CCDS32907.1, CCDS59351.1, CCDS32908.1

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