CHCHD4 (coiled-coil-helix-coiled-coil-helix domain containing 4)

2014-01-01  

Identity

HGNC
CHCHD4
LOCATION
3p25.1
LOCUSID
131474
ALIAS
MIA40,TIMM40
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 131474
MIM: 611077
HGNC: 26467
Ensembl: ENSG00000163528

Variants:

dbSNP: 131474
ClinVar: 131474
TCGA: ENSG00000163528
COSMIC: CHCHD4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163528ENST00000295767Q8N4Q1
ENSG00000163528ENST00000295767A0A024R2F8
ENSG00000163528ENST00000396914Q8N4Q1
ENSG00000163528ENST00000396914A0A024R2I5

Expression (GTEx)

0
5
10
15
20
25
30
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
384114312024[The glutathionylation of the human mitochondrial protein MIA40 regulates ROS homeostasis].0
384114312024[The glutathionylation of the human mitochondrial protein MIA40 regulates ROS homeostasis].0
373651772023Impaired AIF-CHCHD4 interaction and mitochondrial calcium overload contribute to auditory neuropathy spectrum disorder in patient-iPSC-derived neurons with AIFM1 variant.1
373651772023Impaired AIF-CHCHD4 interaction and mitochondrial calcium overload contribute to auditory neuropathy spectrum disorder in patient-iPSC-derived neurons with AIFM1 variant.1
335996992021CHCHD4 (MIA40) and the mitochondrial disulfide relay system.10
335996992021CHCHD4 (MIA40) and the mitochondrial disulfide relay system.10
321058252020AIF meets the CHCHD4/Mia40-dependent mitochondrial import pathway.28
321058252020AIF meets the CHCHD4/Mia40-dependent mitochondrial import pathway.28
265891822016Direct structural evidence of protein redox regulation obtained by in-cell NMR.18
265891822016Direct structural evidence of protein redox regulation obtained by in-cell NMR.18
260042282015Interaction between AIF and CHCHD4 Regulates Respiratory Chain Biogenesis.95
260141362015Mia40 is a facile oxidant of unfolded reduced proteins but shows minimal isomerase activity.6
261585202015Loss of apoptosis-inducing factor critically affects MIA40 function.47
261784762015Metabolic epistasis among apoptosis-inducing factor and the mitochondrial import factor CHCHD4.5
262756202015Human mitochondrial MIA40 (CHCHD4) is a component of the Fe-S cluster export machinery.8

Citation

Dessen P

CHCHD4 (coiled-coil-helix-coiled-coil-helix domain containing 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-01-01

Online version: http://atlasgeneticsoncology.org/gene/53675/gene-explorer/favicon/welcome