MAGED2
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| MAGE family member D2 | MIM:300470 | Ensembl:ENSG00000102316 | HGNC:HGNC:16353 | PA30560 | Xp11.21 |
GO terms in MAGED2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| CC | TAS | GO:0005576 | extracellular region |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005730 | nucleolus |
| CC | IDA | GO:0005829 | cytosol |
| CC | HDA | GO:0016020 | membrane |
| CC | TAS | GO:0031093 | platelet alpha granule lumen |
| BP | TAS | GO:0002576 | platelet degranulation |
| BP | IMP | GO:0007565 | female pregnancy |
| BP | IMP | GO:0070294 | renal sodium ion absorption |
Gene expression in normal tissue: MAGED2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MAGED2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-109582 | Hemostasis |
| reactome | R-HSA-114608 | Platelet degranulation |
| reactome | R-HSA-76002 | Platelet activation, signaling and aggregation |
| reactome | R-HSA-76005 | Response to elevated platelet cytosolic Ca2+ |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MAGED2
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