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CHCHD2

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CHCHD2
Identifiers
AliasesCHCHD2, C7orf17, MNRR1, NS2TP, PARK22, coiled-coil-helix-coiled-coil-helix domain containing 2, MIX17B
External IDsOMIM: 616244; MGI: 1261428; HomoloGene: 49449; GeneCards: CHCHD2; OMA:CHCHD2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_016139
NM_001320327

NM_024166

RefSeq (protein)

NP_001307256
NP_057223

NP_077128

Location (UCSC)Chr 7: 56.1 – 56.11 MbChr 5: 129.91 – 129.92 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Coiled-coil-helix-coiled-coil-helix domain containing 2 is a protein that in humans is encoded by the CHCHD2 gene. [5]

Function

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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].

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000106153Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000070493Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Coiled-coil-helix-coiled-coil-helix domain containing 2". Retrieved 2018-02-21.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.