FAM20A Gene Summary [Human]
This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]
Details
| Type | Processed Transcript |
| Official Symbol | FAM20A |
| Official Name | FAM20A golgi associated secretory pathway pseudokinase [Source:HGNC Symbol;Acc:HGNC:23015] |
| Ensembl ID | ENSG00000108950 |
| Bio databases IDs | |
| Aliases | FAM20A golgi associated secretory pathway pseudokinase |
| Synonyms | AI1G, AIGFS, BC029169, FAM20A golgi associated secretory pathway pseudokinase, FAM20A, golgi associated secretory pathway pseudokinase, FP2747, RGD1306364 |
| 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 FAM20A 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 kinase activator
- FAM20_C_like
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- Golgi Apparatus
- Endoplasmic Reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FAM20A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to bacterium
- calcium ion homeostasis
- enamel mineralization
- positive regulation of protein phosphorylation
- protein phosphorylation
- biomineral tissue development
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular vesicular exosome
- cytoplasm
- endoplasmic reticulum
- Golgi apparatus
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein serine/threonine kinase activator activity
- phosphotransferase activity, alcohol group as acceptor
- protein serine/threonine kinase activity