FAM20C Gene Summary [Human]
This gene encodes a member of the family of secreted protein kinases. The encoded protein binds calcium and phosphorylates proteins involved in bone mineralization. Mutations in this gene are associated with the autosomal recessive disorder Raine syndrome. [provided by RefSeq, Apr 2014]
Details
| Type | Protein Coding |
| Official Symbol | FAM20C |
| Official Name | FAM20C golgi associated secretory pathway kinase [Source:HGNC Symbol;Acc:HGNC:22140] |
| Ensembl ID | ENSG00000177706 |
| Bio databases IDs | |
| Aliases | FAM20C golgi associated secretory pathway kinase, dentin matrix protein 4, golgi casein kinase |
| Synonyms | AK026140, BC004044, DMP-4, FAM20C golgi associated secretory pathway kinase, FAM20C, golgi associated secretory pathway kinase, G-CK, GEF-CK, LOC100132244, mKIAA4081, RGD1311980, RNS |
| 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 FAM20C often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Golgi casein kinase, C-terminal, Fam20
- protein serine/threonine kinase
- protein kinase
- protease binding
- FAM20_C_like
- calcium ion binding
- enzyme
- protein binding
- manganese ion binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metastasis
- Raine syndrome
- osteosclerosis
- growth failure
- hypoplasia
- motor dysfunction or movement disorder
- hypocalcemia
- dental pulp necrosis
- carcinoma in situ
- epithelial cancer in situ
role in cell
- expression in
- differentiation
- phosphorylation in
- osteoclastogenesis
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
- Cytoplasm
- perinuclear region
- Golgi Apparatus
- endoplasmic reticulum lumen
- Golgi membrane
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FAM20C gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein metabolic process
- osteoclast maturation
- regulation of fibroblast growth factor receptor signaling pathway
- positive regulation of osteoblast differentiation
- protein phosphorylation
- post-translational protein modification
- dentinogenesis
- enamel mineralization
- regulation of phosphorus metabolic process
- odontoblast differentiation
- positive regulation of bone mineralization
- biomineral tissue development
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- extracellular vesicular exosome
- Golgi membrane
- Golgi apparatus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- calcium ion binding
- manganese ion binding
- protein kinase activity
- protease binding
- protein serine/threonine kinase activity