🧬 基因注释：CHCHD2
官方名称：coiled-coil-helix-coiled-coil-helix domain containing 2
功能摘要：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].
- FUS 综合评分: 0.514 · 证据 1 条
- fus 综合评分: 0.514 · 证据 1 条
- RBFOX2 综合评分: 0.460 · 证据 2 条
- Tardbp 综合评分: 0.444 · 证据 1 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- RBM10 综合评分: 0.312 · 证据 2 条
- TIA1 综合评分: 0.312 · 证据 1 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- PCBP2 综合评分: 0.298 · 证据 1 条
- PRPF8 综合评分: 0.298 · 证据 1 条
- UPF1 综合评分: 0.274 · 证据 1 条
- Rbmx 综合评分: 0.260 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- RBM15 综合评分: 0.250 · 证据 2 条
- U2af1 综合评分: 0.248 · 证据 1 条
- ELAVL3 综合评分: 0.244 · 证据 1 条
- U2af2 综合评分: 0.244 · 证据 1 条
该基因暂无关联疾病记录