CHCHD2

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

CHCHD2
Identifiers
Aliases	CHCHD2, C7orf17, MNRR1, NS2TP, PARK22, coiled-coil-helix-coiled-coil-helix domain containing 2, MIX17B
External IDs	OMIM: 616244; MGI: 1261428; HomoloGene: 49449; GeneCards: CHCHD2; OMA:CHCHD2 - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7p11.2 Start 56,101,573 bp[1] End 56,106,476 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 G1.3 Start 129,909,997 bp[2] End 129,916,311 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right adrenal cortex left adrenal gland left adrenal cortex gonad Brodmann area 9 gastrocnemius muscle anterior pituitary ganglionic eminence mucosa of transverse colon right frontal lobe Top expressed in right kidney proximal tubule quadriceps femoris muscle neural tube mesencephalon heart muscle of thigh muscle tissue human kidney primary oocyte More reference expression data BioGPS n/a
Gene ontology Molecular function sequence-specific DNA binding transcription factor binding protein binding Cellular component nucleus mitochondrial intermembrane space mitochondrion Biological process regulation of cellular response to hypoxia transcription, DNA-templated positive regulation of transcription by RNA polymerase II mitochondrion organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 51142 14004 Ensembl ENSG00000106153 ENSMUSG00000070493 UniProt Q9Y6H1 Q9D1L0 RefSeq (mRNA) NM_016139 NM_001320327 NM_024166 RefSeq (protein) NP_001307256 NP_057223 NP_077128 Location (UCSC) Chr 7: 56.1 – 56.11 Mb Chr 5: 129.91 – 129.92 Mb PubMed search [3] [4]
Wikidata
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Function

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].