Entrez Summary: This gene is a member of the MAGED gene family. The MAGED genes are clustered on chromosome Xp11. This gene is located in Xp11.2, a hot spot for X-linked intellectual disability (XLID). Mutations in this gene cause a form of transient antenatal Bartter's syndrome. This gene may also be involved in several types of cancer, including breast cancer and melanoma. The protein encoded by this gene is progressively recruited from the cytoplasm to the nucleoplasm during the interphase and after nucleolar stress and is thus thought to play a role in cell cycle regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017].
UniProt Summary: 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}.
Pfam DomainsGO Terms
Pfam Domains
MAGE
GO Terms
renal sodium ion absorption
renal sodium ion transport
renal absorption
platelet alpha granule lumen
renal system process
platelet degranulation
sodium ion transport
female pregnancy
multi-multicellular organism process
monovalent inorganic cation transport
metal ion transport
regulated exocytosis
exocytosis
cation transport
nucleolus
multi-organism reproductive process
secretion by cell
export from cell
secretion
ion transport
reproductive process
reproduction
extracellular region
vesicle-mediated transport
system process
membrane
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)