MAGED2 gene

MAGE family member D2

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Bartter syndrome, type 5, antenatal, transient

From UniProt:

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. [MIM:300971]

Cytogenetic Location: Xp11.21, which is the short (p) arm of the X chromosome at position 11.21

Molecular Location: base pairs 54,807,745 to 54,816,015 on the X chromosome (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: Xp11.21, which is the short (p) arm of the X chromosome at position 11.21
  • 11B6
  • BARTS5
  • BCG-1
  • BCG1
  • HCA10
  • MAGE-D2