MAGED2

This gene is a member of the MAGED gene family. While the MAGEA and MAGEB genes are silent in normal tissues with the exception of testis and placenta, the MAGED genes are expressed ubiquitously. The MAGED genes are clustered on chromosome Xp11. This gene is located in Xp11.2, a hot spot for X-linked mental retardation (XLMR). Multiple alternatively spliced transcript variants have been found for this gene, however, the full length nature of some variants has not been defined. [provided by RefSeq]

Full Name

melanoma antigen family D, 2

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.

Biological Process

Female pregnancyManual Assertion Based On ExperimentIMP:UniProtKB
Negative regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Renal sodium ion absorptionManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Cytosol
Extracellular region
Membrane
Nucleolus
Nucleoplasm
Nucleus
Platelet alpha granule lumen

Involvement in disease

Bartter syndrome 5, antenatal, transient (BARTS5):
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.