Cc2d1a Gene Summary [Mouse]
Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in regulation of postsynapse assembly. Acts upstream of or within several processes, including apical dendrite arborization; long-term synaptic potentiation; and regulation of respiratory gaseous exchange by nervous system process. Located in cytosol and endosome membrane. Is active in glutamatergic synapse. Is expressed in brain. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 3 and intellectual disability. Orthologous to human CC2D1A (coiled-coil and C2 domain containing 1A). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Cc2d1a |
| Official Name | coiled-coil and C2 domain containing 1A [Source:MGI Symbol;Acc:MGI:2384831] |
| Ensembl ID | ENSMUSG00000036686 |
| Bio databases IDs | |
| Aliases | coiled-coil and C2 domain containing 1A |
| Synonyms | Aki-1, coiled-coil and C2 domain containing 1A, FREUD-1, Freud-1/Aki1, Lgd2, MRT3, RGD1306108, TAPE |
| Species | Mouse, Mus musculus |
| 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 mouse Cc2d1a often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- DM14 domain
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
- 4-helix bundle ligand binding sensor domain of chemoreceptors such as Tar or Tsr
- nucleic acid binding
- double-stranded DNA binding
- protein binding
- sequence-specific DNA binding
- Protein kinase C conserved region 2 (CalB)
- C2 domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- epithelial cancer
- epithelial neoplasia
- autosomal recessive mental retardation type 3
- autism
- dyspnea
- hypothermia
- hereditary disorder
- mental retardation
- ciliopathy
role in cell
- expression in
- activity
- phosphorylation in
- activation in
- production in
- cell cycle progression
- function
- cell viability
- abnormal morphology
- formation
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
- glutaminergic synapse
- fibrillar center
- Nucleus
- Plasma Membrane
- basal bodies
- cytosol
- endosomal membrane
- synapse
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Cc2d1a gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- endosome organization
- positive regulation of I-kappaB kinase/NF-kappaB cascade
- regulation of respiratory gaseous exchange by neurological system process
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- centrosome
- extracellular vesicular exosome
- membrane
- cytosol
- endosome membrane
- plasma membrane
- fibrillar center
Molecular Function
What the gene product does at the molecular level
- protein binding
- cadherin binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity