CHCHD2 cDNA Clone – Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 2 (Human)

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]

CHCHD2: 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). {ECO:0000269|PubMed:23303788}. Up-regulated by hypoxia (4% oxygen) (at protein level). {ECO:0000269|PubMed:23303788}. Interacts with RBPJ. {ECO:0000269|PubMed:23303788}

Protein type: Unknown function

Chromosomal Location of Human Ortholog: 7p11.2

Cellular Component: mitochondrial intermembrane space; mitochondrion; nucleus

Molecular Function: protein binding; sequence-specific DNA binding; transcription factor binding

Biological Process: positive regulation of transcription from RNA polymerase II promoter

Disease: Parkinson Disease 22, Autosomal Dominant