GPM6B Gene Summary [Human]
This gene encodes a membrane glycoprotein that belongs to the proteolipid protein family. Proteolipid protein family members are expressed in most brain regions and are thought to be involved in cellular housekeeping functions such as membrane trafficking and cell-to-cell communication. This protein may also be involved in osteoblast differentiation. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes Y and 22. [provided by RefSeq, Jan 2016]
Details
| Type | Protein Coding |
| Official Symbol | GPM6B |
| Official Name | glycoprotein M6B [Source:HGNC Symbol;Acc:HGNC:4461] |
| Ensembl ID | ENSG00000046653 |
| Bio databases IDs | |
| Aliases | glycoprotein M6B |
| Synonyms | glycoprotein M6B, Gpm6, M6B |
| 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 GPM6B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
- Myelin proteolipid protein (PLP or lipophilin)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Parkinson disease
- astrocytosis
- microgliosis
- psoriasis
- atrial fibrillation
- COVID-19
- idiopathic pulmonary fibrosis
- hypertonia
- tremor
- open-angle glaucoma
regulates
- cholesterol
- 5-hydroxytryptamine
role in cell
- apoptosis
- organization
- abnormal morphology
- assembly
- degeneration
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
- cellular membrane
- membrane rafts
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GPM6B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- central nervous system myelination
- negative regulation of protein localization at cell surface
- regulation of focal adhesion assembly
- regulation of actin cytoskeleton organization
- ossification
- protein transport
- nervous system development
- extracellular matrix assembly
- positive regulation of bone mineralization
- negative regulation of serotonin uptake
Cellular Component
Where in the cell the gene product is active
- myelin sheath
- membrane raft
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- structural constituent of myelin sheath