Identity
HGNC
LOCATION
7p11.2
LOCUSID
ALIAS
C7orf17,MIX17B,MNRR1,NS2TP,PARK22
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 51142
MIM: 616244
HGNC: 21645
Ensembl: ENSG00000106153
Variants:
dbSNP: 51142
ClinVar: 51142
TCGA: ENSG00000106153
COSMIC: CHCHD2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000106153 | ENST00000395422 | Q9Y6H1 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Metabolism of proteins | REACTOME | R-HSA-392499 |
| Mitochondrial protein import | REACTOME | R-HSA-1268020 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38214772 | 2024 | Epigenetic repression of CHCHD2 enhances survival from single cell dissociation through attenuated Rho A kinase activity. | 0 |
| 38220225 | 2024 | A mitochondrial regulator protein, MNRR1, is elevated in the maternal blood of women with preeclampsia. | 0 |
| 38341417 | 2024 | CHCHD2 up-regulation in Huntington disease mediates a compensatory protective response against oxidative stress. | 0 |
| 38395904 | 2024 | Genetic and pharmacologic p32-inhibition rescue CHCHD2-linked Parkinson's disease phenotypes in vivo and in cell models. | 1 |
| 38214772 | 2024 | Epigenetic repression of CHCHD2 enhances survival from single cell dissociation through attenuated Rho A kinase activity. | 0 |
| 38220225 | 2024 | A mitochondrial regulator protein, MNRR1, is elevated in the maternal blood of women with preeclampsia. | 0 |
| 38341417 | 2024 | CHCHD2 up-regulation in Huntington disease mediates a compensatory protective response against oxidative stress. | 0 |
| 38395904 | 2024 | Genetic and pharmacologic p32-inhibition rescue CHCHD2-linked Parkinson's disease phenotypes in vivo and in cell models. | 1 |
| 36941246 | 2023 | Evidence for the participation of CHCHD2/MNRR1, a mitochondrial protein, in spontaneous labor at term and in preterm labor with intra-amniotic infection. | 0 |
| 37221428 | 2023 | What is the role of CHCHD2 in adrenal tumourigenesis? | 1 |
| 36941246 | 2023 | Evidence for the participation of CHCHD2/MNRR1, a mitochondrial protein, in spontaneous labor at term and in preterm labor with intra-amniotic infection. | 0 |
| 37221428 | 2023 | What is the role of CHCHD2 in adrenal tumourigenesis? | 1 |
| 34791217 | 2022 | Mouse midbrain dopaminergic neurons survive loss of the PD-associated mitochondrial protein CHCHD2. | 5 |
| 35157262 | 2022 | CHCHD2 Regulates Mitochondrial Function and Apoptosis of Ectopic Endometrial Stromal Cells in the Pathogenesis of Endometriosis. | 1 |
| 35388756 | 2022 | Downregulation of CHCHD2 may Contribute to Parkinson's Disease by Reducing Expression of NFE2L2 and RQCD1. | 0 |
Citation
Dessen P
CHCHD2 (coiled-coil-helix-coiled-coil-helix domain containing 2)
Atlas Genet Cytogenet Oncol Haematol. 2016-01-01
Online version: http://atlasgeneticsoncology.org/gene/55566/chchd2-(coiled-coil-helix-coiled-coil-helix-domain-containing-2)
