Property Summary

NCBI Gene PubMed Count 19
PubMed Score 31.26
PubTator Score 21.08

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
ependymoma 1.100 0.027
oligodendroglioma 1.400 0.008
osteosarcoma 1.628 0.001
medulloblastoma, large-cell -1.200 0.024
ovarian cancer -1.600 0.000
Breast cancer 1.100 0.000

Synonym

Accession Q9Y6H1 Q498C3 Q6NZ50
Symbols MNRR1
NS2TP
PARK22
C7orf17

Gene

Gene RIF (10)

PMID Text
26764027 identified a nonsense variant in exon 3 of CHCHD2 (NM_016139, c.376C > T, p.Gln126X; figure, B) in one German patient with Parkinson disease
26561290 The presence of any rare variants in CHCHD2 were more common in Lewy body disease patients with Parkinson's disease compared to controls.
26343503 CHCHD2 mutations might not be a common cause of PD in Chinese familial cases.
25784717 CHCHD2 influences mitochondrial and nuclear functions and contributes to the cancer phenotype associated with 7p11.2 amplification in non-small cell lung carcinoma .
25662902 CHCHD2 missense mutations are associated with autosomal dominant Parkinson's disease.
25625293 The results of the present study indicated that CHCHD2 may be a novel biomarker for hepatocellular carcinoma and that CREB is important in the transcriptional activation of CHCHD2 by HCV NS2.
25476776 findings establish CHCHD2, a previously uncharacterized small mitochondrial protein with no known homology to the Bcl-2 family, as one of the negative regulators of mitochondria-mediated apoptosis.
25315652 MNRR1 (formerly CHCHD2) is imported to the mitochondrial intermembrane space by a Mia40-mediated pathway, where it binds to cytochrome c oxidase (COX).
20877624 Observational study of gene-disease association. (HuGE Navigator)
19680543 Silencing CHCHD2 reduces cellular oxygen consumption and disrupts the assembly and activity of Cytochrome C Oxidase.

AA Sequence

MPRGSRSRTSRMAPPASRAPQMRAAPRPAPVAQPPAAAPPSAVGSSAAAPRQPGLMAQMATTAAGVAVGS      1 - 70
AVGHTLGHAITGGFSGGSNAEPARPDITYQEPQGTQPAQQQQPCLYEIKQFLECAQNQGDIKLCEGFNEV     71 - 140
LKQCRLANGLA                                                               141 - 151
//

Text Mined References (22)

PMID Year Title
26764027 2016 A nonsense mutation in CHCHD2 in a patient with Parkinson disease.
26561290 2015 Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders.
26343503 2015 Mutation analysis of CHCHD2 gene in Chinese familial Parkinson's disease.
26067113 2015 CHCHD2 and Parkinson's disease.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25784717 2015 CHCHD2 Is Coamplified with EGFR in NSCLC and Regulates Mitochondrial Function and Cell Migration.
25662902 2015 CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study.
25625293 2015 Cyclic adenosine monophosphate response element-binding protein transcriptionally regulates CHCHD2 associated with the molecular pathogenesis of hepatocellular carcinoma.
25476776 2015 CHCHD2 inhibits apoptosis by interacting with Bcl-x L to regulate Bax activation.
25416956 2014 A proteome-scale map of the human interactome network.
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