MAGED2
entrez
10916
canonical
uniprot
Q9UNF1
canonical
ensembl
ENSG00000102316
resolver
ensp
ENSP00000364198
resolver
ensp
ENSP00000364209
resolver
ensp
ENSP00000542373
resolver
genesymbol
MAGED2
resolver
genesymbol_syn
BCG1
resolver
hgnc
HGNC:16353
resolver
uniprot
A6NMX0
resolver
uniprot
O76058
resolver
uniprot
Q5BJF3
resolver
uniprot
Q8NAL6
resolver
uniprot
Q9H218
resolver
uniprot
Q9P0U9
resolver
uniprot
Q9UM52
resolver
uniprot_entry
MAGD2_HUMAN
resolver
uniprot_sec
A6NMX0
resolver
uniprot_sec
O76058
resolver
uniprot_sec
Q5BJF3
resolver
uniprot_sec
Q8NAL6
resolver
uniprot_sec
Q9H218
resolver
uniprot_sec
Q9P0U9
resolver
uniprot_sec
Q9UM52
resolver
amino_acid_sequence
MSDTSESGAGLTRFQAEASEKDSSSMMQTLLTVTQNVEVPETPKASKALEVSEDVKVSKASGVSKATEVSKTPEAREAPATQASSTTQLTDTQVLAAENKSLAADTKKQNADPQAVTMPATETKKVSHVADTKVNTKAQETEAAPSQAPADEPEPESAAAQSQENQDTRPKVKAKKARKVKHLDGEEDGSSDQSQASGTTGGRRVSKALMASMARRASRGPIAFWARRASRTRLAAWARRALLSLRSPKARRGKARRRAAKLQSSQEPEAPPPRDVALLQGRANDLVKYLLAKDQTKIPIKRSDMLKDIIKEYTDVYPEIIERAGYSLEKVFGIQLKEIDKNDHLYILLSTLEPTDAGILGTTKDSPKLGLLMVLLSIIFMNGNRSSEAVIWEVLRKLGLRPGIHHSLFGDVKKLITDEFVKQKYLDYARVPNSNPPEYEFFWGLRSYYETSKMKVLKFACKVQKKDPKEWAAQYREAMEADLKAAAEAAAEAKARAEIRARMGIGLGSENAAGPCNWDEADIGPWAKARIQAGAEAKAKAQESGSASTGASTSTNNSASASASTSGGFSAGASLTATLTFGLFAGLGGAGASTSGSSGACGFSYK
uniprot
proteins
disease_involvement
DISEASE: Bartter syndrome 5, antenatal, transient (BARTS5) [MIM:300971]: An X-linked recessive form of Bartter syndrome, a disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS5 is an antenatal form beginning in utero with marked fetal polyuria that leads to polyhydramnios and premature delivery. It is characterized by severe but transient symptoms that can resolve with age. {ECO:0000269|PubMed:27120771}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Regulates the expression, localization to the plasma membrane and function of the sodium chloride cotransporters SLC12A1 and SLC12A3, two key components of salt reabsorption in the distal renal tubule. {ECO:0000269|PubMed:27120771}.
uniprot
proteins
mass_dalton
64954
uniprot
proteins
pubmed
10463614
uniprot
proteins
pubmed
10752678
uniprot
proteins
pubmed
11856887
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
17924679
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
27120771
uniprot
proteins
sequence_length
606
uniprot
proteins