Type | Description |
---|---|
Definition | MAGE family member D2 |
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 |
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
|
{{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
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Refseq |
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