CRB2 Gene Summary [Human]
This gene encodes a member of a family of proteins that are components of the Crumbs cell polarity complex. In mammals, members of this family are thought to play a role in many cellular processes in early embryonic development. A similar protein in Drosophila determines apicobasal polarity in embryonic epithelial cells. Mutations in this gene are associated with focal segmental glomerulosclerosis 9, and with ventriculomegaly with cystic kidney disease. [provided by RefSeq, Aug 2016]
Details
| Type | Protein Coding |
| Official Symbol | CRB2 |
| Official Name | crumbs cell polarity complex component 2 [Source:HGNC Symbol;Acc:HGNC:18688] |
| Ensembl ID | ENSG00000148204 |
| Bio databases IDs | |
| Aliases | crumbs cell polarity complex component 2 |
| Synonyms | 5930402A21, crumbs cell polarity complex component 2, crumbs family member 2, FSGS9, RGD1309368, VMCKD |
| 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 CRB2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- binding protein
- aspartic protease inhibitor
- LamG
- Human growth factor-like EGF
- transmembrane domain
- protein binding
- BRCT-like domain
- laminin G domain
- 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
- liver cancer
- epithelial cancer
- cystic kidney disease with ventriculomegaly
- focal segmental glomerulosclerosis type 9
- hepatocellular carcinoma
- hereditary disorder
- thyroid cancer
regulated by
- mir-146 (includes others)
- 3M-002
regulates
- APP
- endopeptidase
role in cell
- production in
- generation in
- development
- maintenance
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
- apicolateral membrane
- cell junction
- Cytoplasm
- apical compartment
- cellular membrane
- apical membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CRB2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of gastrulation
- ingression involved in gastrulation with mouth forming second
- heterophilic cell-cell adhesion
- visual perception
- retinal cone cell development
- positive regulation of epithelial to mesenchymal transition
- retina homeostasis
- positive regulation of BMP signaling pathway
- maintenance of epithelial cell apical/basal polarity
- somitogenesis
- establishment or maintenance of epithelial cell apical/basal polarity
- photoreceptor cell maintenance
- establishment of cell polarity
- negative regulation of endopeptidase activity
- circulatory system development
- mesoderm formation
- notochord formation
Cellular Component
Where in the cell the gene product is active
- apicolateral plasma membrane
- subapical complex
- extracellular vesicular exosome
- cytoplasm
- apical junction complex
- macromolecular complex
- apical plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- aspartic-type endopeptidase inhibitor activity
- calcium ion binding