Background: | 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. |
UniProt Protein Function: | 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} |
UniProt Protein Details: | Protein type:Unknown function Chromosomal Location of Human Ortholog: 7p11.2 Cellular Component: mitochondrion |
UniProt Code: | Q9Y6H1 |
NCBI GenInfo Identifier: | 7705851 |
NCBI Gene ID: | 51142 |
NCBI Accession: | NP_057223.1 |
UniProt Secondary Accession: | Q9Y6H1,Q498C3, Q6NZ50, |
UniProt Related Accession: | Q9Y6H1 |
Molecular Weight: | 15,513 Da |
NCBI Full Name: | coiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrial |
NCBI Synonym Full Names: | coiled-coil-helix-coiled-coil-helix domain containing 2 |
NCBI Official Symbol: | CHCHD2 |
NCBI Official Synonym Symbols: | C7orf17 |
NCBI Protein Information: | coiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrial; 16.7kD protein; HCV NS2 trans-regulated protein; NS2TP; aging-associated gene 10 protein |
UniProt Protein Name: | Coiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrial |
UniProt Synonym Protein Names: | Aging-associated gene 10 protein; HCV NS2 trans-regulated protein; NS2TP |
Protein Family: | Coiled-coil-helix-coiled-coil-helix domain-containing protein |
UniProt Gene Name: | CHCHD2 |
UniProt Entry Name: | CHCH2_HUMAN |