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127833 SYT2

127833

SYT2

synaptotagmin 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition synaptotagmin 2

研究结论

Date Results Publications
2017-06-03 10:06:00 the extended synaptotagmins (E-Syts), endoplasmic reticulum (ER) proteins that function as PtdIns(4,5)P2- and Ca(2+)-regulated tethers to the Pplasma membrane. 27065097
2016-03-26 10:31:00 SYT2 mutations cause a novel complex presynaptic congenital myasthenic syndrome characterized by motor neuropathy causing lower limb wasting and foot deformities, reflex potentiation following exercise and a prolonged period of posttetanic potentiation 26519543
2014-11-08 10:52:00 Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy. 25192047
2013-01-26 11:07:00 Human SytII is not an effective receptor for Botulinum neurotoxin D-C. 22454523
2012-04-14 10:48:00 synaptotagmin-II is not a high affinity receptor for BoNT/B and G due to a phenylalanine to leucine mutation in its luminal domain present only in humans and chimpanzees 22265973

名称对应

Type IDs
Synonymous CMS7, MYSPC, SytII
Gene
UniProtKB-ID: SYT2_HUMAN
UniprotKB: Q8N9I0
UniParc: UPI000006E8FC
EMBL: BC100817, AK094430, BC100815, BC100814, AK090672
Ensembl: ENSG00000143858
KO: hsa:127833
Nucleutide sequences
EMBL-CDS: BAC03500.1, AAI00816.1, BAC04354.1, AAI00815.1, AAI00818.1
Ensembl_TRS: ENST00000367267, ENST00000367268
Protein sequencees
Ensembl_PRO: ENSP00000356236, ENSP00000356237
RefSeq: XP_011507494.1, XP_016855798.1, XP_016855799.1, XP_016855800.1, NP_796376.2, XP_016855802.1, XP_016855801.1, NP_001129976.1
Others
UniRef100: UniRef100_Q8N9I0
UniRef90: UniRef90_Q8N9I0
UniRef50: UniRef50_P21707
UniGene: Hs.25422
CCDS: CCDS1427.1

全选

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