| Gene Name | CHCHD2 |
|
| Specie | Homo sapiens | |
| Full Name | coiled-coil-helix-coiled-coil-helix domain containing 2 | |
| Also known as | C7orf17|MIX17B|MNRR1|NS2TP|PARK22 | |
| Coordinate | chr7:56101573-56106476 | |
| Strand | - | |
| Gene summary | 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] |
| Retroname | Coord | Strand | Genomic Region | ENSG | |
|---|---|---|---|---|---|
| CHCHD2P14 | chr10:43598375-43598935 | - |
Intergenic |
N/A | UCSC |
| CHCHD2P6 | chr1:15604527-15605314 | + |
Intergenic |
ENSG00000235084 | UCSC |
| CHCHD2P8 | chr13:28107406-28108147 | + |
Intergenic |
ENSG00000235115 | UCSC |
| CHCHD2P11 | chr13:42181309-42181844 | - |
Intragenic |
ENSG00000270809 | UCSC |
| CHCHD2P3 | chr19:34126964-34127574 | + |
Intergenic |
ENSG00000270849 | UCSC |
| CHCHD2P7 | chr4:87785932-87786378 | - |
Intergenic |
ENSG00000249973 | UCSC |
| CHCHD2P4 | chr6:134392982-134393380 | - |
Intergenic |
ENSG00000213118 | UCSC |
| CHCHD2P12 | chr7:66748720-66749044 | - |
Intragenic |
ENSG00000271064 | UCSC |
| CHCHD2P13 | chr8:54191422-54192041 | - |
Intergenic |
ENSG00000270980 | UCSC |
| CHCHD2P9 | chr9:79391270-79392035 | + |
Intergenic |
ENSG00000186940 | UCSC |
| CHCHD2P1 | chrX:123785008-123785537 | + |
Intergenic |
ENSG00000226902 | UCSC |
| CHCHD2P5 | chr1:93921111-93921614 | - |
Intergenic |
ENSG00000223490 | UCSC |
| CHCHD2P2 | chr5:69333873-69334619 | + |
Intergenic |
ENSG00000215006 | UCSC |
| >NM_001320327.2 |
| AGAAGTCGCTTAGCTCTTCGGTGGTTGTCCCACGTCCGGAGGCCTAGCCGTCGCTTACCTAGGATGCCGCGTGGAAGCCGAAGCCGCACCTCCCGCATGGCCCCTCCGGCCAGCCGGGCCCCTCAGATGAGAGCTGCACCCAGGCCAGCACCAGTCGCTCAGCCACCAGCAGCGGCACCCCCATCTGCAGTTGGCTCTTCTGCTGCTGCGCCCCGGCAGCCAGGTCTGATGGCCCAGATGGCAACCACTGCAGCTGGCGTGGCTGTGGGCTCTGCTGTGGGGCACACATTGGGTCACGCCATTACTGGGGGCTTCAGTGGAGGAAGTAATGCTGAGCCTGCGAGGCCTGACATCACTTACCAGGAGCCTCAGGGAACCCAGCCAGCACAGCAGCAGCAGCCTTGCCTCTATGAGATCAAACAGTTTCTGGAGTGTGCCCAGAACCAGGGTGACATCAAGCTCTGTGAGGGTTTCAATGAGGTGCTGAAACAGTGCCGACTTGCAAACGGTAGGATTGGCCTAATGAAGAAGTTCAACCTGGAGAGATGGAAAATCAGCTCTCATAACTAAGTTAATTTAGTATAAAAATAGAATTGATAGTGAGGGTATAAAGTGTAACCATCAGTTAAACCTCTCCTGTCATTCCTGGCTTCCTTGCTTCAGAATTGAAATGGAAGTGGGGGTGTCCCTACTCTGTAGAATCTGGGACTGGGCAAATGTTTGTGTGGCCTCCTTAAACTAGCTGTTATGTTATGATTTTATTCTTTGTGAGTTAATTAGAATAAAGTCATTTTCTTCCAA |
| >NM_016139.4 |
| AGAAGTCGCTTAGCTCTTCGGTGGTTGTCCCACGTCCGGAGGCCTAGCCGTCGCTTACCTAGGATGCCGCGTGGAAGCCGAAGCCGCACCTCCCGCATGGCCCCTCCGGCCAGCCGGGCCCCTCAGATGAGAGCTGCACCCAGGCCAGCACCAGTCGCTCAGCCACCAGCAGCGGCACCCCCATCTGCAGTTGGCTCTTCTGCTGCTGCGCCCCGGCAGCCAGGTCTGATGGCCCAGATGGCAACCACTGCAGCTGGCGTGGCTGTGGGCTCTGCTGTGGGGCACACATTGGGTCACGCCATTACTGGGGGCTTCAGTGGAGGAAGTAATGCTGAGCCTGCGAGGCCTGACATCACTTACCAGGAGCCTCAGGGAACCCAGCCAGCACAGCAGCAGCAGCCTTGCCTCTATGAGATCAAACAGTTTCTGGAGTGTGCCCAGAACCAGGGTGACATCAAGCTCTGTGAGGGTTTCAATGAGGTGCTGAAACAGTGCCGACTTGCAAACGGATTGGCCTAATGAAGAAGTTCAACCTGGAGAGATGGAAAATCAGCTCTCATAACTAAGTTAATTTAGTATAAAAATAGAATTGATAGTGAGGGTATAAAGTGTAACCATCAGTTAAACCTCTCCTGTCATTCCTGGCTTCCTTGCTTCAGAATTGAAATGGAAGTGGGGGTGTCCCTACTCTGTAGAATCTGGGACTGGGCAAATGTTTGTGTGGCCTCCTTAAACTAGCTGTTATGTTATGATTTTATTCTTTGTGAGTTAATTAGAATAAAGTCATTTTCTTCCAA |