CHCHD2 (coiled-coil-helix-coiled-coil-helix domain containing 2)

2016-01-01  

Identity

HGNC
LOCATION
7p11.2
LOCUSID
ALIAS
C7orf17,MIX17B,MNRR1,NS2TP,PARK22
FUSION GENES

Other Information

Locus ID:

NCBI: 51142
MIM: 616244
HGNC: 21645
Ensembl: ENSG00000106153

Variants:

dbSNP: 51142
ClinVar: 51142
TCGA: ENSG00000106153
COSMIC: CHCHD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106153ENST00000395422Q9Y6H1

Expression (GTEx)

0
100
200
300
400
500
600
700
800
900

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Mitochondrial protein importREACTOMER-HSA-1268020

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
196805432009A computational screen for regulators of oxidative phosphorylation implicates SLIRP in mitochondrial RNA homeostasis.65
256629022015CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study.51
253156522015MNRR1 (formerly CHCHD2) is a bi-organellar regulator of mitochondrial metabolism.36
254767762015CHCHD2 inhibits apoptosis by interacting with Bcl-x L to regulate Bax activation.27
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
265612902015Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders.14
257847172015CHCHD2 Is Coamplified with EGFR in NSCLC and Regulates Mitochondrial Function and Cell Migration.13
278109112016The mitochondrial protein CHCHD2 primes the differentiation potential of human induced pluripotent stem cells to neuroectodermal lineages.12
291212672018Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS.12
267050262016CHCHD2 gene mutations in familial and sporadic Parkinson's disease.11

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)