RSPO2 Gene Summary [Human]
This gene encodes a member of the R-spondin family of proteins. These proteins are secreted ligands of leucine-rich repeat containing G protein-coupled receptors that enhance Wnt signaling through the inhibition of ubiquitin E3 ligases. A chromosomal translocation including this locus that results in the formation of a gene fusion has been identified in multiple human cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Details
| Type | Protein Coding |
| Official Symbol | RSPO2 |
| Official Name | R-spondin 2 [Source:HGNC Symbol;Acc:HGNC:28583] |
| Ensembl ID | ENSG00000147655 |
| Bio databases IDs | |
| Aliases | R-spondin 2 |
| Synonyms | 2610028F08Rik, CRISTIN2, D430027K22, ftls, HHRRD, RGD1562331, R-spondin 2, TETAMS2 |
| 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 RSPO2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- FU
- Furin-like repeat, cysteine-rich
- Furin-like repeats
- protein binding
- receptor binding
- Spondin-like TSP1 domain
- heparin binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- bleeding
- prostate cancer
- epithelial cancer
- alopecia
- acute lymphoblastic leukemia
- prostatic carcinoma
- tetraamelia syndrome 2
- aortic valve calcification
- tumorigenesis
- hypoplasia
role in cell
- expression in
- signaling in
- differentiation
- maturation
- hypertrophy
- mineralization
- expansion
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
- cell surface
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RSPO2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- epithelial tube branching involved in lung morphogenesis
- bone mineralization
- limb development
- positive regulation of canonical Wnt receptor signaling pathway
- lung growth
- negative regulation of odontogenesis of dentin-containing tooth
- trachea cartilage morphogenesis
- dopaminergic neuron differentiation
- osteoblast differentiation
- canonical Wnt receptor signaling pathway
- positive regulation of Wnt receptor signaling pathway
- embryonic forelimb morphogenesis
- embryonic hindlimb morphogenesis
Cellular Component
Where in the cell the gene product is active
- extracellular region
- cell surface
Molecular Function
What the gene product does at the molecular level
- protein binding
- heparin binding
- receptor binding