CHCHD2
Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 2
Gene Information Card
| Symbol | CHCHD2 |
|---|---|
| Full Name | Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p11.2 |
| NCBI Gene ID | 51142 ncbi.nlm.nih.gov/gene/51142 |
| Ensembl ID | ENSG00000106123 |
| UniProt ID | Q9Y6H1 |
| OMIM ID | 613041 |
| HGNC ID | 21645 |
| Aliases | MNRR1, PARK22, NS3TP2 |
Description
CHCHD2 encodes a mitochondrial protein involved in the regulation of oxidative phosphorylation and mitochondrial cristae organization. It is implicated in cellular stress responses and has been associated with autosomal dominant Parkinson disease 22 (PARK22).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Parkinson disease 22 (PARK22) | Missense mutations (e.g., c.182C>T, p.Thr61Ile) lead to mitochondrial dysfunction and increased oxidative stress, contributing to neurodegeneration. | ClinVar, OMIM |
| Parkinson disease (sporadic) | Rare variants in CHCHD2 may increase susceptibility; altered mitochondrial morphology observed. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 18.3 | Medium |
| Liver | 8.2 | Low |
| Kidney | 15.1 | Medium |
| Skeletal Muscle | 20.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 14.0 | Neuroblastoma cell line |
| HEK293 | 16.5 | Embryonic kidney cells |
| HeLa | 11.2 | Cervical carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.182C>T (p.Thr61Ile) | Missense | Rare | Impaired mitochondrial respiration and increased reactive oxygen species |
| c.434G>A (p.Arg145Gln) | Missense | Rare | Altered protein stability and mitochondrial localization |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations reduce mitochondrial respiratory capacity and cristae integrity.
Gain of Function (GOF)
Not clearly established; some missense variants may exert toxic gain-of-function effects.
Dominant Negative (DN)
Dominant-negative effects proposed for p.Thr61Ile, interfering with wild-type CHCHD2 function.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial cristae organization | • oxidative phosphorylation |
| • protein homodimerization activity | • mitochondrial intermembrane space |
Pathways
• Oxidative phosphorylation
• Mitochondrial protein import
Protein Summary
CHCHD2 is a 16 kDa mitochondrial protein localized to the intermembrane space. It contains a coiled-coil-helix-coiled-coil-helix domain and is essential for maintaining mitochondrial cristae structure and efficient electron transport chain activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHCHD2 Knockout HEK293 Cell Line | EDJ-KQ51285 | Human | 51142 | Details Get a Quote |
| CHCHD2 Knockout HeLa Cell Line | EDJ-KQ56234 | Human | 51142 | Details Get a Quote |
| CHCHD2 Knockout A-549 Cell Line | EDJ-KQ64724 | Human | 51142 | Details Get a Quote |
| CHCHD2 Knockout HCT 116 Cell Line | EDJ-KQ73169 | Human | 51142 | Details Get a Quote |
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