Aliases for CHCHD2 Gene
- Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 2 2 3 5
- Aging-Associated Gene 10 Protein 3 4
- HCV NS2 Trans-Regulated Protein 3 4
- C7orf17 3 4
- NS2TP 3 4
- Coiled-Coil-Helix-Coiled-Coil-Helix Domain-Containing Protein 2, Mitochondrial 3
- Coiled-Coil-Helix-Coiled-Coil-Helix Domain-Containing Protein 2 3
External Ids for CHCHD2 Gene
Previous HGNC Symbols for CHCHD2 Gene
Previous GeneCards Identifiers for CHCHD2 Gene
The protein encoded by this gene belongs to a class of eukaryotic CX(9)C proteins characterized by four cysteine residues spaced ten amino acids apart from one another. These residues form disulfide linkages that define a CHCH fold. In response to stress, the protein translocates from the mitochondrial intermembrane space to the nucleus where it binds to a highly conserved 13 nucleotide oxygen responsive element in the promoter of cytochrome oxidase 4I2, a subunit of the terminal enzyme of the electron transport chain. In concert with recombination signal sequence-binding protein J, binding of this protein activates the oxygen responsive element at four percent oxygen. In addition, it has been shown that this protein is a negative regulator of mitochondria-mediated apoptosis. In response to apoptotic stimuli, mitochondrial levels of this protein decrease, allowing BCL2-associated X protein to oligomerize and activate the caspase cascade. Pseudogenes of this gene are found on multiple chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
GeneCards Summary for CHCHD2 Gene
CHCHD2 (Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 2) is a Protein Coding gene. Diseases associated with CHCHD2 include Parkinson Disease 22, Autosomal Dominant and Parkinson Disease, Late-Onset. Among its related pathways are Mitochondrial protein import and Metabolism of proteins. GO annotations related to this gene include sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is CHCHD10.
UniProtKB/Swiss-Prot for CHCHD2 Gene
Transcription factor. Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen), as well as normoxia conditions (20% oxygen) (PubMed:23303788).