Human Gene CHCHD2 (uc003tsa.3) Description and Page Index
Description: Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2), nuclear gene encoding mitochondrial protein, mRNA. RefSeq Summary (NM_016139): 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]. Transcript (Including UTRs) Position: hg19 chr7:56,169,266-56,174,187 Size: 4,922 Total Exon Count: 4 Strand: - Coding Region Position: hg19 chr7:56,169,544-56,174,106 Size: 4,563 Coding Exon Count: 4
Receptors, Tumor Necrosis Factor, Type II Emelia J Benjamin et al. BMC medical genetics 2007, Genome-wide association with select biomarker traits in the Framingham Heart Study., BMC medical genetics.
The Framingham GWAS represents a resource to describe potentially novel genetic influences on systemic biomarker variability. The newly described associations will need to be replicated in other studies.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9Y6H1
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006351 transcription, DNA-templated GO:0007005 mitochondrion organization GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:1900037 regulation of cellular response to hypoxia