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55904 KMT2E

55904

KMT2E

lysine methyltransferase 2E

protein-coding

Homo sapiens

基因描述

Type Description
Definition lysine methyltransferase 2E

研究结论

Date Results Publications
2021-03-06 13:34:00 ODLURO syndrome: personal experience and review of the literature. 32691224
2020-03-14 12:34:00 Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. 31079897
2019-01-12 10:06:00 In the duloxetine-treated subsample (N=186), we observed suggestive associations with ZNF385D (rs4261893; beta=-0.46, P=1.55 x 10(-5)), NCAM1 (rs2303377; beta=0.45, P=1.76 x 10(-5)) and MLL5 (rs117986340; beta=0.91, P=3.04 x 10(-5)). 28696415
2017-07-08 11:22:00 three dimensional structure of MLL5 SET domain unveils the structural basis for its lack of methyltransferase activity 27812132
2016-08-20 10:10:00 MLL5 preserves spindle bipolarity through maintaining cytosolic PLK1 in a nonaggregated form. 27002166

名称对应

Type IDs
Synonymous HDCMC04P, MLL5, NKp44L
Gene
UniProtKB-ID: KMT2E_HUMAN
UniprotKB: Q8IZD2
UniParc: UPI0003F057C8, UPI0001750280, UPI00004245A1, UPI000007448C, UPI0001750281, UPI0000074133, UPI0000225637, UPI000175027F
EMBL: BC001296, BC142987, AC005070, AY234382, AY222296, BC062583, AY438698, AC007384, BC053906, JQ809698, AC005065, BC040004, AY195568, AK000940, AY195569, AY147037, AY157990, CH471070, AF519459
Ensembl: ENSG00000005483
KO: hsa:55904
Nucleutide sequences
EMBL-CDS: AAH40004.1, AAO89072.1, AAN17675.1, AAO64395.1, AAO47009.1, AAM74947.1, AGE34449.1, EAW83356.1, AAO47010.1, AAN76325.1, AAH62583.1, AAR13893.1, AAH53906.1, AAI42988.1, AAH01296.1
Ensembl_TRS: ENST00000311117, ENST00000334884, ENST00000476671, ENST00000257745
Protein sequencees
Ensembl_PRO: ENSP00000312379, ENSP00000417888, ENSP00000335398, ENSP00000257745
RefSeq: NP_891847.1, XP_024302605.1, NP_061152.3, XP_011514702.1, XP_005250550.1, XP_016867924.1
Others
UniRef100: UniRef100_Q8IZD2
UniRef90: UniRef90_Q8IZD2
UniRef50: UniRef50_Q8IZD2
UniGene: Hs.592262
CCDS: CCDS34723.1

全选

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