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81562 LMAN2L

81562

LMAN2L

lectin, mannose binding 2 like

protein-coding

Homo sapiens

基因描述

Type Description
Definition lectin, mannose binding 2 like

研究结论

Date Results Publications
2020-02-22 12:58:00 segregate a NM_001142292.1:c.1073delT mutation that eliminates LMAN2L's endoplasmic reticulum retention signal and mislocalizes the protein from that compartment to the plasma membrane 31020005
2016-11-05 11:31:00 Homozygous missense mutation p.R53Q in the LMAN2L gene causes autosomal recessive intellectual disability and seizures. 26566883
2015-05-16 10:56:00 Study showed a significant association between LMAN2L and risk of both bipolar disorder and schizophrenia 24914473
2013-08-31 10:16:00 The results of this study suggested that significant novel association signals near the genes LMAN2L and provide supportive evidence for the previously reported association signals near ANK3 and within the 3p21.1 locus. 22182935
2010-01-21 00:00:00 selective interaction of VIPL and VIP36 with the deglucosylated trimannose in the D1 branch of high-mannose-type oligosaccharides but with different pH dependence. 18025080

名称对应

Type IDs
Synonymous MRT52, VIPL
Gene
UniProtKB-ID: LMA2L_HUMAN, B4DI83_HUMAN, B4DVH1_HUMAN, B4E308_HUMAN
UniprotKB: Q9H0V9, B4DI83, B4DVH1, B4E308
UniParc: UPI000044099B, UPI00017A7F6E, UPI000003777C, UPI0000E077EB, UPI00017A87C9, UPI00017A7245
EMBL: AK222828, BC000347, CH471207, AK304515, AY358929, AC068539, BC067265, AK316331, BC005862, AL136617, AK295463, BX648002, BC005822, AJ549957, AK299740, AK075347, AK301077
Ensembl: ENSG00000114988
KO: hsa:81562
Nucleutide sequences
EMBL-CDS: BAD96548.1, AAQ89288.1, AAH05862.2, CAD71268.1, AAH67265.1, AAH05822.2, AAH00347.2, BAC11559.1, CAB66552.1, EAW71341.1, BAG61635.1, CAH56196.1, EAW71343.1, AAX93211.1, BAG58395.1, BAH14702.1, BAG62683.1, BAG65320.1
Gene_ORFName: UNQ368/PRO704, PSEC0028
Ensembl_TRS: ENST00000377079, ENST00000264963
Protein sequencees
Ensembl_PRO: ENSP00000366280, ENSP00000264963
RefSeq: NP_001309275.1, NP_001309283.1, NP_001309276.1, NP_001309279.1, NP_001309281.1, NP_001309280.1, NP_110432.1, XP_024308935.1, NP_001135764.1, NP_001309284.1, NP_001309285.1
Others
UniRef100: UniRef100_B4DVH1, UniRef100_Q9H0V9, UniRef100_A0A4X1W4K1, UniRef100_B4E308
UniRef90: UniRef90_Q9H0V9-3, UniRef90_B4E308, UniRef90_J9P4B8, UniRef90_Q9H0V9
UniRef50: UniRef50_B4E308, UniRef50_Q9H0V9, UniRef50_Q2HJD1, UniRef50_Q9H0V9-3
UniGene: Hs.655743
CCDS: CCDS46365.1, CCDS2023.1

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