CHCHD2 Gene Summary [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]
Details
| Type | Protein Coding |
| Official Symbol | CHCHD2 |
| Official Name | coiled-coil-helix-coiled-coil-helix domain containing 2 [Source:HGNC Symbol;Acc:HGNC:21645] |
| Ensembl ID | ENSG00000106153 |
| Bio databases IDs | |
| Aliases | coiled-coil-helix-coiled-coil-helix domain containing 2, MIX17 homolog B, mitochondrial nuclear retrograde regulator 1 |
| Synonyms | AURA7, C7orf17, Chchd2l1, coiled-coil-helix-coiled-coil-helix domain containing 2, ETOHI6, MIX17B, MNRR1, NS2TP, PARK22 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CHCHD2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription factor binding
- protein binding
- sequence-specific DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- dementia
- glioblastoma cancer
- rheumatoid arthritis
- hepatic fibrosis
- organismal death
- autosomal dominant Parkinson disease type 22
- diet-induced nonalcoholic steatohepatitis
- glioblastoma
- Sengers syndrome
- nonalcoholic fatty liver disease
role in cell
- expression in
- phosphorylation in
- formation
- formation in
- differentiation
- number
- growth
- molecular cleavage in
- signaling in
- invasion by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- Mitochondria
- cytosol
- mitochondrial intermembrane space
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CHCHD2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular response to oxidative stress
- regulation of cellular response to hypoxia
- positive regulation of transcription from RNA polymerase II promoter
- regulation of generation of precursor metabolites and energy
- mitochondrion organization
Cellular Component
Where in the cell the gene product is active
- nucleus
- mitochondrial intermembrane space
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- protein binding
- sequence-specific DNA binding