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10916 MAGED2

10916

MAGED2

MAGE family member D2

protein-coding

Homo sapiens

基因描述

Type Description
Definition MAGE family member D2

研究结论

Date Results Publications
2019-09-21 11:48:00 MAGED2 mutations explained 9% of cases of antenatal Bartter syndrome in a French cohort, and accounted for 38% of patients without other characterized mutations and for 44% of male probands of negative cases. 29146702
2019-02-02 12:33:00 MAGED2 loss of function is the cause of an X-linked transient form of antenatal Bartter's syndrome. Moreover, our findings showed that MAGE-D2 promotes the biogenesis of kidney membrane transporters. 29677005
2016-10-22 10:05:00 Increased expression of MAGE-D2 mRNA was associated with distant metastasis in Gastric Cancer. 25743330
2016-06-11 11:44:00 MAGE-D2 is a dynamic protein whose shuttling properties could suggest a role in cell cycle regulation. 26705694
2016-05-28 10:16:00 We found that MAGED2 mutations caused X-linked polyhydramnios with prematurity and a severe but transient form of antenatal Bartter's syndrome. 27120771

名称对应

Type IDs
Synonymous 11B6, BARTS5, BCG-1, BCG1, HCA10, MAGE-D2
Gene
UniProtKB-ID: MAGD2_HUMAN, A0A024R9Y7_HUMAN
UniprotKB: Q9UNF1, A0A024R9Y7
UniParc: UPI000000123B, UPI00001BBB10
EMBL: AF148815, AF128528, Z98046, U92544, AK092463, CH471154, AF126181, AF128527, AJ293618, AF320907, BC091503, AF320070, BC000304
Ensembl: ENSG00000102316
KO: hsa:10916
Nucleutide sequences
EMBL-CDS: EAW93189.1, CAC19410.1, AAD33393.1, AAH00304.1, AAD33392.1, AAH91503.1, AAD00728.1, AAG38603.1, AAF73137.1, BAC03896.1, AAD28598.1, AAG35066.2, EAW93195.1, EAW93193.1, EAW93191.1, EAW93198.1
Gene_ORFName: hCG_18665
Ensembl_TRS: ENST00000375053, ENST00000375068, ENST00000375058, ENST00000218439, ENST00000396224
Protein sequencees
Ensembl_PRO: ENSP00000379526, ENSP00000364209, ENSP00000364198, ENSP00000364193, ENSP00000218439
RefSeq: NP_957516.1, NP_055414.2, NP_803182.1
Others
UniRef100: UniRef100_Q9UNF1
UniRef90: UniRef90_Q9UNF1
UniRef50: UniRef50_Q9UNF1
UniGene: Hs.522665
CCDS: CCDS14362.1

全选

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