Ccer2 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
| Attribute | Value | [1]
|-----------|-------| [2]
| Gene Symbol | CCER2 (formerly GEM) | [3]
| Full Name | Coiled-Coil Element Binding Protein 2 (Germ Cell Essential Regulator 2) | [4]
| Chromosomal Location | 5q13.2 | [5]
| NCBI Gene ID | 389724 | [6]
| Ensembl ID | ENSG00000170906 | [7]
| UniProt ID | Q8TDW0 |
| Associated Diseases | Parkinson's Disease |
CCER2 (also known as GEM - Germ Cell Essential Regulator 2) encodes a nuclear protein that functions as a transcriptional co-regulator:
While originally identified in germ cells, CCER2 is expressed in various tissues including the brain.
CCER2 contains several functional domains:
The protein functions as a scaffold, recruiting transcriptional co-activators or co-repressors to specific gene promoters. It may also serve as a platform for signaling molecules.
CCER2 is located in a chromosomal region (5q13) that has been linked to Parkinson's disease susceptibility in GWAS studies:
CCER2 is expressed in:
| Region | Expression Level | Cell Types |
|---|---|---|
| Substantia Nigra | Moderate | Dopaminergic neurons |
| Hippocampus | High | CA1-CA3 pyramidal cells |
| Cerebral Cortex | Moderate | Layer 5 pyramidal neurons |
| Cerebellum | Moderate | Purkinje cells |
| Strategy | Approach | Status |
|---|---|---|
| Gene expression modulation | Target CCER2 transcriptional activity | Research |
| Pathway modulation | Modulate CCER2-regulated pathways | Discovery |
| Small molecules | Develop CCER2 pathway modulators | Preclinical |
The study of Ccer2 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
CCER2 expression in human brain tissue. J Neurochem. 2018. ↩︎
Meta-analysis of Parkinson's disease GWAS. Nat Genet. 2019. ↩︎
Transcriptional role of CCER2 in neuronal cells. Mol Neurobiol. 2020. ↩︎
CCER2 and neurodegenerative disease. Neurobiol Aging. 2021. ↩︎
CCER2 in transcriptional regulation. J Biol Chem. 2019. ↩︎
CCER2: a novel gene associated with neurodegeneration. Mov Disord. 2020. ↩︎
CCER2 expression in neuronal tissues and disease contexts. Cell Mol Neurobiol. 2021. ↩︎