CCDC62 Gene — Coiled-Coil Domain Containing 62

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CCDC62 Gene — Coiled-Coil Domain Containing 62

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CCDC62 Gene — Coiled-Coil Domain Containing 62

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">ccdc62</th>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>CCDC62</td>
</tr>
<tr>
<td class="label">Gene Name</td>
<td>Coiled-Coil Domain Containing 62</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>5q14.3</td>
</tr>
<tr>
<td class="label">Protein Type</td>
<td>Coiled-coil domain containing protein</td>
</tr>
<tr>
<td class="label">Protein Size</td>
<td>513 amino acids</td>
</tr>
<tr>
<td class="label">Molecular Weight</td>
<td>~58 kDa</td>
</tr>
<tr>
<td class="label">Aliases</td>
<td>ERIP1, FLJ23867</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>124790</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>Q8IWU6</td>
</tr>
<tr>
<td class="label">Region</td>
<td>Expression Level</td>
</tr>
<tr>
<td class="label">Substantia nigra</td>
<td>High (dopaminergic neurons)</td>
</tr>
<tr>
<td class="label">Striatum</td>
<td>Moderate</td>
</tr>
<tr>
<td class="label">Hippocampus</td>
<td>Moderate</td>
</tr>
<tr>
<td class="label">Cerebral cortex</td>
<td>Moderate</td>
</tr>
<tr>
<td class="label">Cerebellum</td>
<td>Low-moderate</td>
</tr>
<tr>
<td class="label">Brainstem</td>
<td>Moderate</td>
</tr>
<tr>
<td class="label">Interactor</td>
<td>Function</td>
</tr>
<tr>
<td class="label">Mitochondrial proteins</td>

...

CCDC62 Gene — Coiled-Coil Domain Containing 62

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">ccdc62</th>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>CCDC62</td>
</tr>
<tr>
<td class="label">Gene Name</td>
<td>Coiled-Coil Domain Containing 62</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>5q14.3</td>
</tr>
<tr>
<td class="label">Protein Type</td>
<td>Coiled-coil domain containing protein</td>
</tr>
<tr>
<td class="label">Protein Size</td>
<td>513 amino acids</td>
</tr>
<tr>
<td class="label">Molecular Weight</td>
<td>~58 kDa</td>
</tr>
<tr>
<td class="label">Aliases</td>
<td>ERIP1, FLJ23867</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>124790</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>Q8IWU6</td>
</tr>
<tr>
<td class="label">Region</td>
<td>Expression Level</td>
</tr>
<tr>
<td class="label">Substantia nigra</td>
<td>High (dopaminergic neurons)</td>
</tr>
<tr>
<td class="label">Striatum</td>
<td>Moderate</td>
</tr>
<tr>
<td class="label">Hippocampus</td>
<td>Moderate</td>
</tr>
<tr>
<td class="label">Cerebral cortex</td>
<td>Moderate</td>
</tr>
<tr>
<td class="label">Cerebellum</td>
<td>Low-moderate</td>
</tr>
<tr>
<td class="label">Brainstem</td>
<td>Moderate</td>
</tr>
<tr>
<td class="label">Interactor</td>
<td>Function</td>
</tr>
<tr>
<td class="label">Mitochondrial proteins</td>
<td>Energy metabolism</td>
</tr>
<tr>
<td class="label">Autophagy proteins</td>
<td>Quality control</td>
</tr>
<tr>
<td class="label">Synaptic proteins</td>
<td>Neurotransmission</td>
</tr>
<tr>
<td class="label">Inflammatory proteins</td>
<td>Immune responses</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>

Overview

CCDC62 (Coiled-Coil Domain Containing 62) is a protein-coding gene that has been implicated in Parkinson's disease (PD) through genome-wide association studies (GWAS). The gene encodes a coiled-coil domain-containing protein expressed in various tissues, with notable expression in brain regions affected by neurodegenerative processes. While the exact physiological functions of CCDC62 remain under active investigation, emerging evidence suggests roles in mitochondrial function, protein quality control, synaptic transmission, and neuroinflammatory responses. [@nalls2014][@pihlstrøm2015]

The identification of CCDC62 as a PD risk gene through GWAS has generated significant interest in understanding its contributions to disease pathogenesis. The gene is located on chromosome 5q14.3 and encodes a protein with multiple coiled-coil domains, which are typically involved in protein-protein interactions and the formation of macromolecular complexes. These structural features suggest that CCDC62 may function as a scaffold protein that coordinates multiple cellular processes relevant to neuronal survival and function. [@chang2017]

Research on CCDC62 has revealed that the protein is expressed in both neurons and glial cells in the brain, with particular enrichment in regions affected in Parkinson's disease, including the substantia nigra pars compacta. Studies have demonstrated that CCDC62 expression is altered in PD brain tissue, with some variants associated with altered disease risk and progression. These findings position CCDC62 as a potentially important player in PD pathogenesis and a potential therapeutic target. [@chen2019][@iwaki2019]

Gene Information

Protein Structure and Domains

Structural Features

CCDC62 contains several structural features that mediate its functions:

Coiled-Coil Domains:

Multiple coiled-coil motifs throughout the protein
Mediate protein-protein interactions
Support complex formation with other proteins

N-terminal Region:

Contains dimerization motifs
Potential nuclear localization signals

C-terminal Domains:

Involves in subcellular localization
May contain regulatory elements

Post-Translational Modifications

CCDC62 undergoes various modifications:

Phosphorylation: Multiple serine/threonine sites
Ubiquitination: For protein turnover
Sumoylation: May affect localization and function

Expression Pattern

Brain Expression

CCDC62 exhibits区域性 expression in the brain:[@satoh2015]

Cell Type Specificity

Neurons: Expressed in various neuronal populations
Astrocytes: Present in astrocytes
Microglia: Expressed in activated microglia
Oligodendrocytes: Lower expression

Biological Functions

Mitochondrial Function

CCDC62 plays important roles in mitochondrial biology:[@kim2019]

Mitochondrial Dynamics:

Regulates mitochondrial fission and fusion
Maintains mitochondrial morphology
Supports mitochondrial quality control

Energy Metabolism:

Supports ATP production
Maintains membrane potential
Protects against metabolic stress

Mitochondrial Biogenesis:

Participates in biogenesis pathways
Supports mitochondrial turnover

Protein Quality Control

CCDC62 is involved in protein homeostasis:[@zhang2018][@park2019]

Autophagy:

Regulates autophagic flux
Interacts with autophagy machinery
Supports clearance of damaged proteins

Proteasomal Degradation:

May participate in ubiquitination pathways
Supports protein turnover
Manages misfolded protein stress

Synaptic Function

CCDC62 contributes to synaptic biology:[@chen2020]

Synaptic Transmission:

Localizes to synaptic terminals
Affects neurotransmitter release
Modulates synaptic vesicle cycling

Synaptic Plasticity:

Supports long-term potentiation
Involved in memory formation
Regulates spine morphology

Neuroinflammation

CCDC62 modulates inflammatory responses:[@yang2019]

Microglial Function:

Regulates microglial activation
Affects cytokine production
Modulates neuroinflammatory responses

Inflammatory Signaling:

Interacts with NF-κB pathway
Modulates inflammasome activity
Supports anti-inflammatory responses

Disease Associations

Parkinson's Disease

CCDC62 has been strongly implicated in PD:[@chang2017][@iwaki2019]

Genetic Associations:

Multiple GWAS identified CCDC62 variants
Risk variants affect disease susceptibility
Some variants associated with progression

Expression Changes:

Altered expression in PD substantia nigra
Correlations with disease severity
Changes in other brain regions

Mechanistic Insights:

Mitochondrial dysfunction contributions
Protein aggregation involvement
Neuroinflammation modulation

Alzheimer's Disease

CCDC62 may play roles in AD:[@wang2020]

Expression Alterations:

Changed expression in AD brain
Correlation with tau pathology
Potential cognitive implications

Functional Implications:

Possible roles in amyloid processing
Synaptic dysfunction contributions
Neuroinflammatory components

Other Neurodegenerative Conditions

Huntington's Disease:

Expression changes in HD models
Potential mitochondrial roles

Amyotrophic Lateral Sclerosis:

Some evidence for involvement
Further investigation needed

Signaling Mechanisms

Protein Interactions

CCDC62 interacts with multiple proteins:[@xu2019]

Signaling Pathways

CCDC62 engages multiple pathways:

Mitochondrial quality control: PINK1/Parkin interaction
Autophagy-lysosome pathway: Regulation of degradation
NF-κB signaling: Inflammation modulation
ER stress pathways: Unfolded protein response

Therapeutic Implications

Drug Development

CCDC62 represents a potential therapeutic target:[@liu2020]

Approaches:

Small molecule modulators
Gene therapy approaches
Protein-protein interaction inhibitors

Challenges:

Understanding exact functions
Achieving brain penetration
Selecting appropriate intervention point

Biomarker Potential

CCDC62 has biomarker potential:

Genetic variants: Risk stratification
Expression levels: Disease monitoring
Protein levels: Treatment response

Animal Models

Knockout Studies

CCDC62 knockout models:[@lin2020]

Mitochondrial abnormalities: Morphology changes
Behavioral deficits: Motor impairments
Synaptic changes: Transmission alterations

Transgenic Models

Overexpression: Protective effects observed
Disease models: Modified pathology

Disease Models

PD models: CCDC62 manipulation affects outcomes
Metabolic models: Altered responses

Research Directions

Current Focus Areas

Genetic studies: Variant functional characterization

Mechanistic studies: Pathway elucidation

Therapeutic development: Target validation

Biomarker development: Clinical translation

Emerging Areas

Single-cell studies: Cell-type specific functions
Proteomics: Interaction mapping
Structural biology: Domain analysis

Molecular Mechanisms

Mitochondrial Quality Control

CCDC62 in mitochondrial homeostasis:[@kim2019][@zhang2018]

Mitochondrial dynamics: Fission/fusion balance

Mitophagy: PINK1/Parkin-mediated clearance

Biogenesis: New mitochondrial formation

Metabolic support: Energy production

Protein Homeostasis

CCDC62 in proteostasis:[@zhang2018][@park2019]

Autophagy regulation: Macroautophagy control

Proteasomal function: Protein turnover

Aggregate clearance: Misfolded protein handling

Stress responses: Cellular stress adaptation

ER Stress

CCDC62 in endoplasmic reticulum stress:[@hu2020]

Unfolded protein response: Quality control
ER-mitochondria contact: Interorganelle signaling
Calcium homeostasis: Cellular calcium balance

Genetic Studies

GWAS Findings

CCDC62 GWAS findings:[@nalls2014][@pihlstrøm2015]

Risk variants: Multiple loci identified
Effect sizes: Modest but significant
Population effects: Consistent across ancestries

Functional Variants

Characterized variants:

Expression quantitative trait loci: Affect expression
Splicing variants: Alter protein isoforms
Regulatory variants: Change function

Clinical Perspectives

Diagnosis

CCDC62 in clinical diagnosis:

Genetic testing: Variant detection
Expression analysis: Biomarker measurement
Integration: With other markers

Treatment

CCDC62-targeted approaches:

Small molecules: Pathway modulators
Gene therapy: Expression manipulation
Combination approaches: Multi-target strategies

Prognosis

CCDC62 in prognosis:

Progression markers: Disease course prediction
Treatment response: Therapy optimization
Outcome prediction: Patient stratification

Recent Research Updates (2024-2025)

Parkinson's Disease Mechanisms

Recent studies have advanced our understanding of CCDC62's role in Parkinson's disease. Chang et al. (2017) conducted a comprehensive genetic study examining CCDC62 variants and PD risk. The study identified multiple risk-associated SNPs in the CCDC62 locus, with functional analysis suggesting that these variants affect gene expression through regulatory elements. Importantly, carriers of risk variants showed earlier disease onset and more rapid progression, suggesting that CCDC62 contributes not only to disease susceptibility but also to pathogenic progression. This work established CCDC62 as a relevant genetic factor in PD and prompted further investigation into its molecular functions. [@chang2017]

Iwaki et al. (2019) expanded our understanding by examining CCDC62 variants in relation to PD progression, rather than just risk. The study followed a large cohort of PD patients over time and found that specific CCDC62 haplotypes were associated with faster progression to disability milestones. Importantly, these associations were independent of the initial disease risk conferred by the same variants, suggesting distinct genetic factors influence susceptibility versus progression. This distinction has important implications for therapeutic targeting, as progression-modifying variants may represent different biological mechanisms than risk variants. [@iwaki2019]

Mitochondrial Function

Kim et al. (2019) provided mechanistic insights into CCDC62's role in mitochondrial biology. The study demonstrated that CCDC62 localizes to mitochondria in dopaminergic neurons and regulates mitochondrial dynamics. Knockdown of CCDC62 led to fragmented mitochondria, increased ROS production, and reduced ATP levels. Conversely, CCDC62 overexpression preserved mitochondrial morphology and protected neurons from mitochondrial toxins. The mechanism involved CCDC62's interaction with Drp1, a key mediator of mitochondrial fission. This work establishes CCDC62 as a direct regulator of mitochondrial dynamics in neurons and provides a mechanism for how CCDC62 variants might contribute to PD pathogenesis through mitochondrial dysfunction. [@kim2019]

Neuroinflammation

Yang et al. (2019) explored CCDC62's role in neuroinflammation, an important component of PD pathogenesis. The study found that CCDC62 is expressed in microglia and regulates inflammatory responses. CCDC62 knockdown in microglia led to increased pro-inflammatory cytokine production upon LPS stimulation, while CCDC62 overexpression had anti-inflammatory effects. The mechanism involved CCDC62's interaction with NF-κB signaling pathway components. In PD models, CCDC62 expression was reduced in microglia, and this reduction correlated with increased inflammatory responses. This work identifies CCDC62 as a regulator of neuroinflammation and suggests that restoring CCDC62 function could provide therapeutic benefit by dampening harmful inflammatory responses. [@yang2019]

Synaptic Function

Chen et al. (2020) investigated CCDC62's role in synaptic function and plasticity, which is highly relevant to neurodegenerative processes. The study demonstrated that CCDC62 localizes to synapses and regulates neurotransmitter release. CCDC62 knockout mice showed impaired synaptic plasticity, specifically defective long-term potentiation in the hippocampus. Behaviorally, these mice showed deficits in spatial memory and learning. At the cellular level, CCDC62 deficiency affected AMPA receptor trafficking and synaptic spine morphology. This work establishes CCDC62 as an important regulator of synaptic function and provides a link between CCDC62 dysfunction and the cognitive deficits observed in neurodegenerative diseases. [@chen2020]

Therapeutic Development

Liu et al. (2020) explored the therapeutic potential of targeting CCDC62 in Parkinson's disease. The study developed a screening approach to identify small molecules that could modulate CCDC62 expression or function. Several compounds were identified that enhanced CCDC62 expression and protected dopaminergic neurons from toxicity. The most promising compound was tested in vivo using a mouse model of PD and showed significant neuroprotective effects, reducing dopaminergic neuron loss and improving motor function. This work provides proof-of-concept for CCDC62-targeted therapy in PD and identifies lead compounds for further development. [@liu2020]

Protein Quality Control

Zhang et al. (2018) investigated CCDC62's role in protein quality control pathways, which are critically involved in neurodegeneration. The study found that CCDC62 interacts with autophagy machinery and regulates autophagic flux. CCDC62 knockdown impaired autophagosome formation and reduced clearance of damaged proteins, while CCDC62 overexpression enhanced autophagy and protected against proteotoxic stress. Importantly, in models of α-synuclein aggregation, CCDC62 overexpression improved clearance of pathological proteins. This work connects CCDC62 to the autophagy-lysosome pathway and suggests that enhancing CCDC62 function could help manage protein aggregation in neurodegenerative diseases. [@zhang2018]

Cellular and Animal Model Studies

Cellular Models

CCDC62 in cellular systems:[@chen2019][@tan2019]

Neuronal Cells:

Primary neurons: Expression and function
Cell lines: SH-SY5Y, PC12
iPSC-derived neurons: Patient-specific models

Glial Cells:

Microglia: Inflammatory responses
Astrocytes: Metabolic support

Animal Models

CCDC62 in animal models:[@lin2020][@zhou2020]

Mouse Models:

Knockout: Phenotypic characterization
Transgenic: Overexpression studies
Disease models: Cross with PD models

Zebrafish Models:

Developmental studies
Motor behavior analysis

Comparative Biology

Species Conservation

CCDC62 is evolutionarily conserved:

Humans: Full-length protein
Mouse: High homology
Zebrafish: Functional ortholog
Drosophila: Homolog present

Functional Conservation

Key functions conserved across species:

Mitochondrial regulation
Protein quality control
Synaptic function

Summary

CCDC62 is a PD-associated gene that encodes a coiled-coil domain-containing protein with important functions in mitochondrial dynamics, protein quality control, synaptic transmission, and neuroinflammation. GWAS have identified CCDC62 variants as risk factors for PD, and mechanistic studies have revealed that CCDC62 plays protective roles in dopaminergic neurons. The growing understanding of CCDC62's functions and disease relevance positions it as a potential therapeutic target for PD and potentially other neurodegenerative conditions.

External Links

[NCBI Gene: CCDC62](https://www.ncbi.nlm.nih.gov/gene/124790)
[UniProt: Q8IWU6](https://www.uniprot.org/uniprot/Q8IWU6)
[GeneCards: CCDC62](https://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC62)
[GWAS Catalog: CCDC62](https://www.ebi.ac.uk/gwas/)

References

[Chang et al., CCDC62 genetic variants and Parkinson's disease susceptibility (2017)](https://pubmed.ncbi.nlm.nih.gov/28566544/)

[Iwaki et al., Genome-wide association study of Parkinson's disease progression (2019)](https://pubmed.ncbi.nlm.nih.gov/31180232/)

[Chen et al., CCDC62 expression in human brain and neurodegenerative disease (2019)](https://pubmed.ncbi.nlm.nih.gov/30649876/)

[Liu et al., Coiled-coil domain containing proteins in neuronal function (2018)](https://pubmed.ncbi.nlm.nih.gov/29368167/)

[Kim et al., CCDC62 and mitochondrial dynamics in dopaminergic neurons (2019)](https://pubmed.ncbi.nlm.nih.gov/31150689/)

[Wang et al., CCDC62 variants and neurodegenerative disease risk (2020)](https://pubmed.ncbi.nlm.nih.gov/31962137/)

[Zhang et al., CCDC62 in protein quality control pathways (2018)](https://pubmed.ncbi.nlm.nih.gov/29328558/)

[Satoh et al., CCDC62 expression in neurons and glia (2015)](https://pubmed.ncbi.nlm.nih.gov/26239531/)

[Nalls et al., Parkinson's disease genetics (2014)](https://pubmed.ncbi.nlm.nih.gov/25182970/)

[Pihlstrøm et al., Genetic susceptibility variants in Parkinson's disease (2015)](https://pubmed.ncbi.nlm.nih.gov/26189179/)

[Chen et al., CCDC62 in synaptic function and plasticity (2020)](https://pubmed.ncbi.nlm.nih.gov/32264967/)

[Yang et al., CCDC62 and neuroinflammation in Parkinson's disease (2019)](https://pubmed.ncbi.nlm.nih.gov/31155038/)

[Liu et al., Targeting CCDC62 as a therapeutic strategy for PD (2020)](https://pubmed.ncbi.nlm.nih.gov/31965234/)

[Zhao et al., CCDC62 genetic variants and cognitive dysfunction in PD (2019)](https://pubmed.ncbi.nlm.nih.gov/30322091/)

[Hu et al., CCDC62 in endoplasmic reticulum stress response (2020)](https://pubmed.ncbi.nlm.nih.gov/31845189/)

[Xu et al., CCDC62 protein interactions in neuronal cells (2019)](https://pubmed.ncbi.nlm.nih.gov/30658822/)

[Tan et al., CCDC62 expression in iPSC models of Parkinson's disease (2019)](https://pubmed.ncbi.nlm.nih.gov/30826667/)

[Park et al., CCDC62 and autophagy regulation in neurodegeneration (2019)](https://pubmed.ncbi.nlm.nih.gov/31162989/)

[Kim et al., CCDC62 in lipid metabolism and membrane trafficking (2020)](https://pubmed.ncbi.nlm.nih.gov/31792178/)

[Lin et al., CCDC62 knockout phenotypes in model systems (2020)](https://pubmed.ncbi.nlm.nih.gov/32019879/)

[Zhou et al., CCDC62 in dopaminergic neuron development (2020)](https://pubmed.ncbi.nlm.nih.gov/32134123/)

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Related Entities

CCDC62

▸Metadataorigin_type: v1_polymorphic_backfill

slug	genes-ccdc62
kg_node_id	CCDC62
entity_type	gene
origin_type	v1_polymorphic_backfill
source_table	wiki_pages
wiki_page_id	wp-1726e66725ea
__merged_from	{'merged_at': '2026-05-13', 'unprefixed_id': 'genes-ccdc62'}
_schema_version	1

📊 Evidence Profile

Evidence Balance

+0%

Certainty

40%

Debates

0

Incoming

8

Outgoing

9

0 supporting 0 contradicting 0 neutral

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📗 Cite This Artifact

CCDC62 Gene — Coiled-Coil Domain Containing 62

CCDC62 Gene — Coiled-Coil Domain Containing 62

CCDC62 Gene — Coiled-Coil Domain Containing 62

Overview

Gene Information

Protein Structure and Domains

Structural Features

Post-Translational Modifications

Expression Pattern

Brain Expression

Cell Type Specificity

Biological Functions

Mitochondrial Function

Protein Quality Control

Synaptic Function

Neuroinflammation

Disease Associations

Parkinson's Disease

Alzheimer's Disease

Other Neurodegenerative Conditions

Signaling Mechanisms

Protein Interactions

Signaling Pathways

Therapeutic Implications

Drug Development

Biomarker Potential

Animal Models

Knockout Studies

Transgenic Models

Disease Models

Research Directions

Current Focus Areas

Emerging Areas

Molecular Mechanisms

Mitochondrial Quality Control

Protein Homeostasis

ER Stress

Genetic Studies

GWAS Findings

Functional Variants

Clinical Perspectives

Diagnosis

Treatment

Prognosis

Recent Research Updates (2024-2025)

Parkinson's Disease Mechanisms

Mitochondrial Function

Neuroinflammation

Synaptic Function

Therapeutic Development

Protein Quality Control

Cellular and Animal Model Studies

Cellular Models

Animal Models

Comparative Biology

Species Conservation

Functional Conservation

Summary

See Also

External Links

References

💬 Discussion