MAGED2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | MAGED2 |
| Official Name | MAGE family member D2 [Source:HGNC Symbol;Acc:HGNC:16353] |
| Ensembl ID | ENSG00000102316 |
| Bio databases IDs | |
| Aliases | MAGE family member D2, hepatocellular carcinoma associated protein, breast cancer associated gene 1, melanoma-associated antigen D2, hepatocellular carcinoma-associated protein HCA10 |
| Synonyms | 11B6, 4833439A22RIK, BARTS5, BCG-1, HCA10, MAGE family member D2, ORF1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MAGED2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- MAGE homology domain
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- breast carcinoma
- organismal death
- glioblastoma
- glioblastoma cancer
- transient antenatal Bartter syndrome type 5
- amyotrophic lateral sclerosis
- low-grade glioma
- glioma formation
- diffuse astrocytoma
role in cell
- apoptosis
- phosphorylation in
- migration
- expression in
- proliferation
- growth
- number
- invasion by
- autophagy in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- pH resistant lipid raft fraction
- Extracellular Space
- Nucleus
- cytosol
- nucleoplasm
- nucleoli
- alpha granules
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MAGED2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- renal sodium ion absorption
- female pregnancy
Cellular Component
Where in the cell the gene product is active
- platelet alpha granule lumen
- nucleus
- membrane
- cytosol
- extracellular region
- nucleolus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding