GPC6 Gene Summary [Human]
The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans, and they have been implicated in the control of cell growth and cell division. The glypican encoded by this gene is a putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. Mutations in this gene are associated with omodysplasia 1. [provided by RefSeq, Nov 2016]
Details
| Type | Protein Coding |
| Official Symbol | GPC6 |
| Official Name | glypican 6 [Source:HGNC Symbol;Acc:HGNC:4454] |
| Ensembl ID | ENSG00000183098 |
| Bio databases IDs | |
| Aliases | glypican 6, glypican proteoglycan 6 |
| Synonyms | 6720429C22RIK, glypican 6, OMIMD1, RGD1563063 |
| 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 GPC6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Glypican
- protein binding
- transmembrane receptor
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- omodysplasia type 1
- Alzheimer disease
- colorectal cancer
- acute coronary syndrome
- Huntington disease
- degeneration of lumbar intervertebral disc
- osteonecrosis
- schizophrenia
- insomnia
role in cell
- binding in
- accumulation 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
- Golgi lumen
- glutaminergic synapse
- cellular membrane
- lysosomal compartment
- synapse
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GPC6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of signal transduction
- cell migration
Cellular Component
Where in the cell the gene product is active
- nucleus
- lysosomal lumen
- synapse
- extracellular region
- Golgi lumen
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- coreceptor activity
- protein binding