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

2016-01-01  

Identity

HGNC
CHCHD2
LOCATION
7p11.2
LOCUSID
51142
ALIAS
C7orf17,MIX17B,MNRR1,NS2TP,PARK22
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382147722024Epigenetic repression of CHCHD2 enhances survival from single cell dissociation through attenuated Rho A kinase activity.0
382202252024A mitochondrial regulator protein, MNRR1, is elevated in the maternal blood of women with preeclampsia.0
383414172024CHCHD2 up-regulation in Huntington disease mediates a compensatory protective response against oxidative stress.0
383959042024Genetic and pharmacologic p32-inhibition rescue CHCHD2-linked Parkinson's disease phenotypes in vivo and in cell models.1
382147722024Epigenetic repression of CHCHD2 enhances survival from single cell dissociation through attenuated Rho A kinase activity.0
382202252024A mitochondrial regulator protein, MNRR1, is elevated in the maternal blood of women with preeclampsia.0
383414172024CHCHD2 up-regulation in Huntington disease mediates a compensatory protective response against oxidative stress.0
383959042024Genetic and pharmacologic p32-inhibition rescue CHCHD2-linked Parkinson's disease phenotypes in vivo and in cell models.1
369412462023Evidence for the participation of CHCHD2/MNRR1, a mitochondrial protein, in spontaneous labor at term and in preterm labor with intra-amniotic infection.0
372214282023What is the role of CHCHD2 in adrenal tumourigenesis?1
369412462023Evidence for the participation of CHCHD2/MNRR1, a mitochondrial protein, in spontaneous labor at term and in preterm labor with intra-amniotic infection.0
372214282023What is the role of CHCHD2 in adrenal tumourigenesis?1
347912172022Mouse midbrain dopaminergic neurons survive loss of the PD-associated mitochondrial protein CHCHD2.5
351572622022CHCHD2 Regulates Mitochondrial Function and Apoptosis of Ectopic Endometrial Stromal Cells in the Pathogenesis of Endometriosis.1
353887562022Downregulation 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/gene-fusions-explorer/css/lib/bootstrap.min.css