FREM2 Gene Summary [Human]
This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014]
Details
| Type | Protein Coding |
| Official Symbol | FREM2 |
| Official Name | FRAS1 related extracellular matrix 2 [Source:HGNC Symbol;Acc:HGNC:25396] |
| Ensembl ID | ENSG00000150893 |
| Bio databases IDs | |
| Aliases | FRAS1 related extracellular matrix 2 |
| Synonyms | 6030440P17RIK, 8430406N05Rik, b2b1562Clo, BAC27425, CRYPTOP, FRAS1 related extracellular matrix 2, Fras1 related extracellular matrix protein 2, FRASRS2, Gm409, my, ne, nv1, RGD1566012 |
| 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 FREM2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Bacterial cadherin-like domain
- Cadherin-like
- Frem protein N-terminal domain
- Bacterial Ig domain
- protein binding
- Calx-beta domain
- Domains in Na-Ca exchangers and integrin-beta4
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- bipolar disorder
- COVID-19
- hepatocellular carcinoma
- soft tissue sarcoma cancer
- renal cancer
- isolated unilateral or bilateral cryptophthalmos
- Fraser syndrome type 1
- liver cancer
- Fraser syndrome type 2
role in cell
- adhesion
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
- cellular membrane
- basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FREM2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- heart development
- eye development
- inner ear development
- morphogenesis of an epithelium
- kidney development
- cell communication
- cell adhesion
- anatomical structure morphogenesis
- embryonic digit morphogenesis
Cellular Component
Where in the cell the gene product is active
- basement membrane
- extracellular vesicular exosome
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding