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].
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000106153 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000070493 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Aras S, Bai M, Lee I, Springett R, Hüttemann M, Grossman LI (January 2015). "MNRR1 (formerly CHCHD2) is a bi-organellar regulator of mitochondrial metabolism". Mitochondrion. 20: 43–51. doi:10.1016/j.mito.2014.10.003. PMID 25315652.
Liu Y, Clegg HV, Leslie PL, Di J, Tollini LA, He Y, Kim TH, Jin A, Graves LM, Zheng J, Zhang Y (June 2015). "CHCHD2 inhibits apoptosis by interacting with Bcl-x L to regulate Bax activation". Cell Death Differ. 22 (6): 1035–46. doi:10.1038/cdd.2014.194. PMC4423185. PMID 25476776.
Song R, Yang B, Gao X, Zhang J, Sun L, Wang P, Meng Y, Wang Q, Liu S, Cheng J (June 2015). "Cyclic adenosine monophosphate response element-binding protein transcriptionally regulates CHCHD2 associated with the molecular pathogenesis of hepatocellular carcinoma". Mol Med Rep. 11 (6): 4053–62. doi:10.3892/mmr.2015.3256. PMC4394931. PMID 25625293.
Funayama M, Ohe K, Amo T, Furuya N, Yamaguchi J, Saiki S, Li Y, Ogaki K, Ando M, Yoshino H, Tomiyama H, Nishioka K, Hasegawa K, Saiki H, Satake W, Mogushi K, Sasaki R, Kokubo Y, Kuzuhara S, Toda T, Mizuno Y, Uchiyama Y, Ohno K, Hattori N (March 2015). "CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study". Lancet Neurol. 14 (3): 274–82. doi:10.1016/S1474-4422(14)70266-2. PMID 25662902. S2CID 35183690.
Wei Y, Vellanki RN, Coyaud É, Ignatchenko V, Li L, Krieger JR, Taylor P, Tong J, Pham NA, Liu G, Raught B, Wouters BG, Kislinger T, Tsao MS, Moran MF (July 2015). "CHCHD2 Is Coamplified with EGFR in NSCLC and Regulates Mitochondrial Function and Cell Migration". Mol. Cancer Res. 13 (7): 1119–29. doi:10.1158/1541-7786.MCR-14-0165-T. PMID 25784717.
Liu Z, Guo J, Li K, Qin L, Kang J, Shu L, Zhang Y, Wei Y, Yang N, Luo Y, Sun Q, Xu Q, Yan X, Tang B (November 2015). "Mutation analysis of CHCHD2 gene in Chinese familial Parkinson's disease". Neurobiol. Aging. 36 (11): 3117.e7–3117.e8. doi:10.1016/j.neurobiolaging.2015.08.010. PMID 26343503. S2CID 21297237.
Ogaki K, Koga S, Heckman MG, Fiesel FC, Ando M, Labbé C, Lorenzo-Betancor O, Moussaud-Lamodière EL, Soto-Ortolaza AI, Walton RL, Strongosky AJ, Uitti RJ, McCarthy A, Lynch T, Siuda J, Opala G, Rudzinska M, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Puschmann A, Nishioka K, Funayama M, Hattori N, Parisi JE, Petersen RC, Graff-Radford NR, Boeve BF, Springer W, Wszolek ZK, Dickson DW, Ross OA (December 2015). "Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders". Neurology. 85 (23): 2016–25. doi:10.1212/WNL.0000000000002170. PMC4676755. PMID 26561290.
chchd2, coiled, coil, helix, coiled, coil, helix, domain, containing, protein, that, humans, encoded, gene, identifiersaliases, c7orf17, mnrr1, ns2tp, park22, coiled, coil, helix, coiled, coil, helix, domain, containing, mix17bexternal, idsomim, 616244, 126142. Coiled coil helix coiled coil helix domain containing 2 is a protein that in humans is encoded by the CHCHD2 gene 5 CHCHD2IdentifiersAliasesCHCHD2 C7orf17 MNRR1 NS2TP PARK22 coiled coil helix coiled coil helix domain containing 2 MIX17BExternal IDsOMIM 616244 MGI 1261428 HomoloGene 49449 GeneCards CHCHD2Gene location Human Chr Chromosome 7 human 1 Band7p11 2Start56 101 573 bp 1 End56 106 476 bp 1 Gene location Mouse Chr Chromosome 5 mouse 2 Band5 5 G1 3Start129 909 997 bp 2 End129 916 311 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inleft adrenal glandBrodmann area 9gastrocnemius muscleanterior pituitaryganglionic eminencebody of stomachbody of pancreasthoracic aortaascending aortaleft coronary arteryTop expressed inproximal tubulequadriceps femoris muscleneural tubemesencephalonheartmuscle tissuekidneyganglionic eminencestomachadrenal glandMore reference expression dataBioGPSn aGene ontologyMolecular functionsequence specific DNA binding transcription factor binding protein bindingCellular componentnucleus mitochondrial intermembrane space mitochondrionBiological processregulation of cellular response to hypoxia transcription DNA templated positive regulation of transcription by RNA polymerase II mitochondrion organizationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez5114214004EnsemblENSG00000106153ENSMUSG00000070493UniProtQ9Y6H1Q9D1L0RefSeq mRNA NM 016139NM 001320327NM 024166RefSeq protein NP 001307256NP 057223NP 077128Location UCSC Chr 7 56 1 56 11 MbChr 5 129 91 129 92 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseFunction editThe 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 edit a b c GRCh38 Ensembl release 89 ENSG00000106153 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000070493 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Entrez Gene Coiled coil helix coiled coil helix domain containing 2 Retrieved 2018 02 21 Further reading editBaughman JM Nilsson R Gohil VM Arlow DH Gauhar Z Mootha VK August 2009 A computational screen for regulators of oxidative phosphorylation implicates SLIRP in mitochondrial RNA homeostasis PLOS Genet 5 8 e1000590 doi 10 1371 journal pgen 1000590 PMC 2721412 PMID 19680543 Hendrickson SL Lautenberger JA Chinn LW Malasky M Sezgin E Kingsley LA Goedert JJ Kirk GD Gomperts ED Buchbinder SP Troyer JL O Brien SJ September 2010 Genetic variants in nuclear encoded mitochondrial genes influence AIDS progression PLOS ONE 5 9 e12862 Bibcode 2010PLoSO 512862H doi 10 1371 journal pone 0012862 PMC 2943476 PMID 20877624 Aras S Bai M Lee I Springett R Huttemann M Grossman LI January 2015 MNRR1 formerly CHCHD2 is a bi organellar regulator of mitochondrial metabolism Mitochondrion 20 43 51 doi 10 1016 j mito 2014 10 003 PMID 25315652 Liu Y Clegg HV Leslie PL Di J Tollini LA He Y Kim TH Jin A Graves LM Zheng J Zhang Y June 2015 CHCHD2 inhibits apoptosis by interacting with Bcl x L to regulate Bax activation Cell Death Differ 22 6 1035 46 doi 10 1038 cdd 2014 194 PMC 4423185 PMID 25476776 Song R Yang B Gao X Zhang J Sun L Wang P Meng Y Wang Q Liu S Cheng J June 2015 Cyclic adenosine monophosphate response element binding protein transcriptionally regulates CHCHD2 associated with the molecular pathogenesis of hepatocellular carcinoma Mol Med Rep 11 6 4053 62 doi 10 3892 mmr 2015 3256 PMC 4394931 PMID 25625293 Funayama M Ohe K Amo T Furuya N Yamaguchi J Saiki S Li Y Ogaki K Ando M Yoshino H Tomiyama H Nishioka K Hasegawa K Saiki H Satake W Mogushi K Sasaki R Kokubo Y Kuzuhara S Toda T Mizuno Y Uchiyama Y Ohno K Hattori N March 2015 CHCHD2 mutations in autosomal dominant late onset Parkinson s disease a genome wide linkage and sequencing study Lancet Neurol 14 3 274 82 doi 10 1016 S1474 4422 14 70266 2 PMID 25662902 S2CID 35183690 Wei Y Vellanki RN Coyaud E Ignatchenko V Li L Krieger JR Taylor P Tong J Pham NA Liu G Raught B Wouters BG Kislinger T Tsao MS Moran MF July 2015 CHCHD2 Is Coamplified with EGFR in NSCLC and Regulates Mitochondrial Function and Cell Migration Mol Cancer Res 13 7 1119 29 doi 10 1158 1541 7786 MCR 14 0165 T PMID 25784717 Liu Z Guo J Li K Qin L Kang J Shu L Zhang Y Wei Y Yang N Luo Y Sun Q Xu Q Yan X Tang B November 2015 Mutation analysis of CHCHD2 gene in Chinese familial Parkinson s disease Neurobiol Aging 36 11 3117 e7 3117 e8 doi 10 1016 j neurobiolaging 2015 08 010 PMID 26343503 S2CID 21297237 Ogaki K Koga S Heckman MG Fiesel FC Ando M Labbe C Lorenzo Betancor O Moussaud Lamodiere EL Soto Ortolaza AI Walton RL Strongosky AJ Uitti RJ McCarthy A Lynch T Siuda J Opala G Rudzinska M Krygowska Wajs A Barcikowska M Czyzewski K Puschmann A Nishioka K Funayama M Hattori N Parisi JE Petersen RC Graff Radford NR Boeve BF Springer W Wszolek ZK Dickson DW Ross OA December 2015 Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders Neurology 85 23 2016 25 doi 10 1212 WNL 0000000000002170 PMC 4676755 PMID 26561290 This article incorporates text from the United States National Library of Medicine which is in the public domain nbsp This article on a gene on human chromosome 7 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title CHCHD2 amp oldid 1188050005, wikipedia, wiki, book, books, library,
