CHCHD3 (coiled-coil-helix-coiled-coil-helix domain containing 3)

2014-08-01  

Identity

HGNC
CHCHD3
LOCATION
7q32.3
LOCUSID
54927
ALIAS
MICOS19,MINOS3,Mic19,PPP1R22
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54927
MIM: 613748
HGNC: 21906
Ensembl: ENSG00000106554

Variants:

dbSNP: 54927
ClinVar: 54927
TCGA: ENSG00000106554
COSMIC: CHCHD3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106554ENST00000262570Q9NX63
ENSG00000106554ENST00000262570A4D1N4
ENSG00000106554ENST00000423635F8WAR4
ENSG00000106554ENST00000448878C9JRZ6
ENSG00000106554ENST00000481152A0A286YEX5

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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
310977882020Sam50-Mic19-Mic60 axis determines mitochondrial cristae architecture by mediating mitochondrial outer and inner membrane contact.40
327883602020Multicolor 3D MINFLUX nanoscopy of mitochondrial MICOS proteins.35
310977882020Sam50-Mic19-Mic60 axis determines mitochondrial cristae architecture by mediating mitochondrial outer and inner membrane contact.40
327883602020Multicolor 3D MINFLUX nanoscopy of mitochondrial MICOS proteins.35
288080852017Sub-mitochondrial localization of the genetic-tagged mitochondrial intermembrane space-bridging components Mic19, Mic60 and Sam50.17
288080852017Sub-mitochondrial localization of the genetic-tagged mitochondrial intermembrane space-bridging components Mic19, Mic60 and Sam50.17
264168812015The Oxidation Status of Mic19 Regulates MICOS Assembly.20
264168812015The Oxidation Status of Mic19 Regulates MICOS Assembly.20
230193272012Targeting and import mechanism of coiled-coil helix coiled-coil helix domain-containing protein 3 (ChChd3) into the mitochondrial intermembrane space.35
230193272012Targeting and import mechanism of coiled-coil helix coiled-coil helix domain-containing protein 3 (ChChd3) into the mitochondrial intermembrane space.35
210815042011ChChd3, an inner mitochondrial membrane protein, is essential for maintaining crista integrity and mitochondrial function.157
210815042011ChChd3, an inner mitochondrial membrane protein, is essential for maintaining crista integrity and mitochondrial function.157
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

CHCHD3 (coiled-coil-helix-coiled-coil-helix domain containing 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54214/gene-fusions/cancer-prone-explorer/img/logo-atlas-4.svg