MAGED2
MAGE Family Member D2 – Key Regulator of Renal Sodium Transport and Water Homeostasis
Gene Information Card
| Symbol | MAGED2 |
|---|---|
| Full Name | MAGE Family Member D2 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.21 |
| NCBI Gene ID | 10916 ncbi.nlm.nih.gov/gene/10916 |
| Ensembl ID | ENSG00000102316 |
| UniProt ID | Q9UNF1 |
| OMIM ID | 300470 |
| HGNC ID | 6813 |
| Aliases | 11B6, BCG-1, HCA10, MAGE-D2, MGC8386 |
Description
MAGED2 (MAGE Family Member D2) is a protein-coding gene located on the X chromosome. It belongs to the melanoma-associated antigen (MAGE) family, which is characterized by a conserved MAGE homology domain. The encoded protein is involved in the regulation of renal sodium and water transport, particularly through interaction with the sodium-potassium-chloride cotransporter NKCC2. Loss-of-function mutations in MAGED2 cause Bartter syndrome type 5, a severe antenatal form of salt-losing tubulopathy associated with polyhydramnios and transient renal salt wasting. The gene is widely expressed in adult and fetal tissues, with highest levels in kidney, brain, and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bartter syndrome type 5 (BARTS5) | Loss-of-function mutations in MAGED2 impair NKCC2 trafficking and function, leading to defective renal sodium reabsorption in the thick ascending limb of Henle's loop. | OMIM #300971; ClinVar; PMID: 26940518 |
| Transient antenatal Bartter syndrome | MAGED2 mutations cause a transient form of Bartter syndrome that resolves postnatally, likely due to developmental regulation of the protein. | OMIM #300971; PMID: 26940518 |
| Cancer (potential role) | MAGED2 is overexpressed in some cancers (e.g., melanoma, breast cancer) and may contribute to tumor progression through anti-apoptotic mechanisms. | COSMIC; PMID: 12527899 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 15.2 | Medium |
| Brain | 10.8 | Medium |
| Testis | 20.5 | High |
| Placenta | 8.3 | Low |
| Lung | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.4 | Embryonic kidney cell line |
| HeLa | 7.8 | Cervical cancer cell line |
| MCF7 | 9.1 | Breast cancer cell line |
| SH-SY5Y | 6.5 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.266C>T (p.Pro89Leu) | Missense | Rare | Loss of function; associated with Bartter syndrome type 5 |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of function; associated with Bartter syndrome type 5 |
| c.649C>T (p.Arg217*) | Nonsense | Rare | Loss of function; associated with Bartter syndrome type 5 |
Mutation functional classification
Loss of Function (LOF)
Most reported MAGED2 mutations are loss-of-function, leading to impaired NKCC2 trafficking and Bartter syndrome type 5.
Gain of Function (GOF)
No gain-of-function mutations have been reported in MAGED2.
Dominant Negative (DN)
No dominant-negative mutations have been described for MAGED2.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • plasma membrane (GO:0005886) | • positive regulation of gene expression (GO:0010628) |
| • cell differentiation (GO:0030154) | • response to drug (GO:0042493) |
Pathways
• Renal sodium reabsorption (NKCC2 pathway)
• MAGE family signaling
Protein Summary
The MAGED2 protein is a 707-amino acid member of the MAGE family, containing a conserved MAGE homology domain. It is localized in the cytoplasm and at the plasma membrane, where it interacts with the sodium-potassium-chloride cotransporter NKCC2 (SLC12A1) to facilitate its proper trafficking and function in the kidney. Loss of MAGED2 leads to defective NKCC2 surface expression, causing severe renal salt wasting. The protein is also implicated in cell differentiation and anti-apoptotic processes, with potential roles in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAGED2 Knockout HEK293 Cell Line | EDJ-KQ7211 | Human | 10916 | Details Get a Quote |
| MAGED2 Knockout HCT 116 Cell Line | EDJ-KQ32159 | Human | 10916 | Details Get a Quote |
| MAGED2 Knockout HeLa Cell Line | EDJ-KQ32160 | Human | 10916 | Details Get a Quote |
| MAGED2 Knockout A-549 Cell Line | EDJ-KQ30785 | Human | 10916 | Details Get a Quote |
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