Aliases for MAGED2 Gene
External Ids for MAGED2 Gene
Previous GeneCards Identifiers for MAGED2 Gene
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]
GeneCards Summary for MAGED2 Gene
MAGED2 (MAGE Family Member D2) is a Protein Coding gene. Diseases associated with MAGED2 include Bartter Syndrome, Type 5, Antenatal, Transient and Antenatal Bartter Syndrome. Among its related pathways are Response to elevated platelet cytosolic Ca2+. An important paralog of this gene is TRO.
UniProtKB/Swiss-Prot Summary for MAGED2 Gene
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.