FAM120C Gene Summary [Human]
This gene encodes a potential transmembrane protein and lies in a region where mutations and deletions have been associated with intellectual disability and autism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Details
| Type | Protein Coding |
| Official Symbol | FAM120C |
| Official Name | family with sequence similarity 120C [Source:HGNC Symbol;Acc:HGNC:16949] |
| Ensembl ID | ENSG00000184083 |
| Bio databases IDs | |
| Aliases | family with sequence similarity 120C |
| Synonyms | CXorf17, D930001I21Rik, family with sequence similarity 120 member C, family with sequence similarity 120, member C, ORF34, RGD1564253 |
| 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 FAM120C often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PIN (PilT N terminus) domain: Superfamily
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Unknown
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FAM120C gene, providing context for its role in the cell.
Cellular Component
Where in the cell the gene product is active
- nucleus
Molecular Function
What the gene product does at the molecular level
- RNA binding