RSPO4 Gene Summary [Human]
This gene encodes a member of the R-spondin family of proteins that share a common domain organization consisting of a signal peptide, cysteine-rich/furin-like domain, thrombospondin domain and a C-terminal basic region. The encoded protein may be involved in activation of Wnt/beta-catenin signaling pathways. Mutations in this gene are associated with anonychia congenital. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]
Details
| Type | Protein Coding |
| Official Symbol | RSPO4 |
| Official Name | R-spondin 4 [Source:HGNC Symbol;Acc:HGNC:16175] |
| Ensembl ID | ENSG00000101282 |
| Bio databases IDs | |
| Aliases | R-spondin 4 |
| Synonyms | A730099F22, A930029K19Rik, C20orf182, CRISTIN4, RGD1563415, R-spondin 4 |
| 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 RSPO4 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
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
regulates
- CTNNB1
- WNT
regulated by
disease
- nonsyndromic congenital nail disorder type 4
- hereditary disorder
- insulin-dependent diabetes mellitus
- cleft lip
phenotypes
- Anonychia congenita totalis
- NAIL DISORDER NONSYNDROMIC CONGENITAL 4
- Anonychia congenita
role in cell
- signaling 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
- cell surface
- Extracellular Space
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RSPO4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- nail development
- Wnt receptor signaling pathway
- positive regulation of Wnt receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein binding
- heparin binding