CHCHD2

Also known as C7orf17, MNRR1, NS2TP, PARK22, coiled-coil-helix-coiled-coil-helix domain containing 2, MIX17B

Coiled-coil-helix-coiled-coil-helix domain containing 2 is a protein that in humans is encoded by the CHCHD2 gene.

In the Vinony graph

Within Vinony's link graph, CHCHD2 is referenced by 4 other articles, and connects out to chromosome, mitochondrion and PubMed.

It is catalogued under the topic Genes on human chromosome 7.

Its subject is documented across 5 Wikipedia language editions.

Gene data

CHCHD2

Name: coiled-coil-helix-coiled-coil-helix domain containing 2
Type: protein-coding
Position: 56,094,567–56,106,531 (−)
Aliases: C7orf17, MIX17B, MNRR1, NS2TP, PARK22
Ensembl: ENSG00000106153
RefSeq RNA: NM_001320327.2, NM_016139.4
RefSeq protein: NP_001307256.1, NP_057223.1

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].