C12orf57 Gene Summary [Human]
This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
Details
| Type | Retained Intron |
| Official Symbol | C12orf57 |
| Official Name | chromosome 12 open reading frame 57 [Source:HGNC Symbol;Acc:HGNC:29521] |
| Ensembl ID | ENSG00000111678 |
| Bio databases IDs | |
| Aliases | chromosome 12 open reading frame 57, gene rich cluster C10 gene |
| Synonyms | 2310033H05Rik, C10, chromosome 12 open reading frame 57, gene rich cluster, C10 gene, GRCC10 |
| 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 C12orf57 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Protein C10
- 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.
- Cytoplasm
- nuclear speckles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human C12orf57 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- camera-type eye morphogenesis
- regulation of skeletal muscle contraction
- cognition
- post-embryonic development
- third ventricle development
- corpus callosum morphogenesis
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- nuclear speck
Molecular Function
What the gene product does at the molecular level
- protein binding