| Annotated protein: | Coiled-coil and C2 domain-containing protein 1A (Five prime repressor element under dual repression-binding protein 1) (FRE under dual repression-binding protein 1) (Freud-1). Gene symbol: CC2D1A. Taxonomy: Mus musculus (Mouse). Uniprot ID: Q8K1A6 |
| antibody wiki: | |
| SynGO gene info: | SynGO data @ CC2D1A |
| Ontology domain: | Biological Process |
| SynGO term: | regulation of postsynapse assembly (GO:0150052) |
| Synapse type(s): | cerebral cortex, glutamatergic |
| Annotated paper: | Oaks AW, et al. "Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits" Cereb Cortex. 2017 Feb 1;27(2):1670-1685 PMID:26826102 |
| Figure(s): | Figure 4 |
| Annotation description: | CC2D1A (aka. Freud-1) loss-of-function alters cortical dendrite morphology and spine density in the adult brain. "To analyze dendrite morphology and dendritic spine density, Cc2d1a cKO mice were crossed with the Thy1-YFP-H reporter line (cKO-YFP), which expresses YFP in layer V neurons of the cortex (Feng et al. 2000). While the overall density and morphological features of layer V neurons were similar between cKO-YFP and WT-YFP mice, we examined dendritic spine density on the secondary branches of the apical dendrites in the primary somatosensory cortex to determine whether structural changes that could affect cortical connectivity were present, and identified remarkable regional differences. Layer V cells in frontal areas corresponding to the hindlimb and forelimb regions were unaffected (Fig. 4A), with density (Fig. 4B) and distribution (Fig. 4C) of dendritic spines that were similar to WT-YFP mice. Spine length, surface area, and volume were likewise unaffected (see Supplementary Fig. 4A-C). In contrast, the distribution of dendritic spines on layer V cells of the primary somatosensory cortex corresponding to the trunk and barrel fields (Fig. 4D) was significantly affected. The shift in spine distribution, which was of sufficient magnitude to produce a significant reduction in the average spine density in cKO-YFP mice (Fig. 4E), was restricted to the initial 30 um of secondary apical dendrites (Fig. 4F). Although spine density was reduced, no effect on spine length, area, or volume was detected (see Supplementary Fig. 4D-F)." |
| Evidence tracking, Biological System: | Intact tissue |
| Evidence tracking, Protein Targeting: | Genetic transformation (eg; knockout, knockin, mutations) |
| Evidence tracking, Experiment Assay: | Confocal |
| Annotator(s): | Frank Koopmans (ORCID:0000-0002-4973-5732) Guus Smit (ORCID:0000-0002-2286-1587) Matthijs Verhage (ORCID:0000-0002-2514-0216) |
| Lab: | Department of Functional Genomics, Department of Molecular and Cellular Neurobiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The Netherlands |
| Additional literature: | CC2D1A deletion results in aberrant dendritic morphology and synaptic transmission in mPFC pyramidal neurons. @ PMID:34132974 - Founder mutations in CC2D1A cause ID, ASD, and seizures - Cc2d1a loss of function reduces dendritic complexity in postmitotic neurons - CC2D1A regulates NF-κB signaling - Modulation of NF-κB activity in knockdown neurons rescues dendritic complexity @ PMID:25066123 CC2D1A/Freud1 binds and colocalizes with 5-HT1A Colocalization of Freud-1 with 5-HT1A receptor. @ PMID:12917378 Adult KO of CC2D1A/Freud1 in 5-HT neurons induces 5-HT1A autoreceptor upregulation @ PMID:29101244 |
| SynGO annotation ID: | 5129 |
| Dataset release (version): | 20231201 |
| View annotation as GO-CAM model: |  |