EGFL6 Gene Summary [Human]
This gene encodes a member of the epidermal growth factor (EGF) repeat superfamily. Members of this superfamily are characterized by the presence of EGF-like repeats and are often involved in the regulation of cell cycle, proliferation, and developmental processes. The gene product contains a signal peptide, suggesting that it is secreted; an EGF repeat region consisting of 4 complete EGF-like repeats and 1 partial EGF-like repeat, 3 of which have a calcium-binding consensus sequence; an arg-gly-asp integrin association motif; and a MAM domain, which is believed to have an adhesive function. This gene is expressed early during development, and its expression has been detected in lung and meningioma tumors. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | EGFL6 |
| Official Name | EGF like domain multiple 6 [Source:HGNC Symbol;Acc:HGNC:3235] |
| Ensembl ID | ENSG00000198759 |
| Bio databases IDs | |
| Aliases | EGF like domain multiple 6 |
| Synonyms | EGF like domain multiple 6, EGF-like-domain, multiple 6, MAEG, W80 |
| 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 EGFL6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain in meprin, A5, receptor protein tyrosine phosphatase mu (and others)
- integrin binding
- EGF domain
- protein binding
- MAM domain, meprin/A5/mu
- Coagulation Factor Xa inhibitory site
- EGF_CA
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- oral squamous cell carcinoma
- squamous cell cancer of the oral cavity
- multiple sclerosis
role in cell
- migration
- number
- angiogenesis
- organization
- asymmetric division
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- extracellular matrix
- basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EGFL6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell differentiation
- extracellular matrix organization
- cell adhesion
- positive regulation of cell-substrate adhesion
Cellular Component
Where in the cell the gene product is active
- basement membrane
- extracellular space
- membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- calcium ion binding
- integrin binding