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 Tremor. Among its related pathways are Metabolism of proteins and Mitochondrial protein import. Gene Ontology (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).