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

2014-01-01 Affiliation

Identity

HGNC

CHCHD4

LOCATION

3p25.1

LOCUSID

131474

ALIAS

MIA40,TIMM40

FUSION GENES

Show Gene Fusions

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: 131474
MIM: 611077
HGNC: 26467
Ensembl: ENSG00000163528

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000163528	ENST00000295767	Q8N4Q1
ENSG00000163528	ENST00000295767	A0A024R2F8
ENSG00000163528	ENST00000396914	Q8N4Q1
ENSG00000163528	ENST00000396914	A0A024R2I5

Expression (GTEx)

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

Pathway	Source	External ID
Metabolism of proteins	REACTOME	R-HSA-392499
Mitochondrial protein import	REACTOME	R-HSA-1268020

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
38411431	2024	[The glutathionylation of the human mitochondrial protein MIA40 regulates ROS homeostasis].	0
38411431	2024	[The glutathionylation of the human mitochondrial protein MIA40 regulates ROS homeostasis].	0
37365177	2023	Impaired AIF-CHCHD4 interaction and mitochondrial calcium overload contribute to auditory neuropathy spectrum disorder in patient-iPSC-derived neurons with AIFM1 variant.	1
37365177	2023	Impaired AIF-CHCHD4 interaction and mitochondrial calcium overload contribute to auditory neuropathy spectrum disorder in patient-iPSC-derived neurons with AIFM1 variant.	1
33599699	2021	CHCHD4 (MIA40) and the mitochondrial disulfide relay system.	10
33599699	2021	CHCHD4 (MIA40) and the mitochondrial disulfide relay system.	10
32105825	2020	AIF meets the CHCHD4/Mia40-dependent mitochondrial import pathway.	28
32105825	2020	AIF meets the CHCHD4/Mia40-dependent mitochondrial import pathway.	28
26589182	2016	Direct structural evidence of protein redox regulation obtained by in-cell NMR.	18
26589182	2016	Direct structural evidence of protein redox regulation obtained by in-cell NMR.	18
26004228	2015	Interaction between AIF and CHCHD4 Regulates Respiratory Chain Biogenesis.	95
26014136	2015	Mia40 is a facile oxidant of unfolded reduced proteins but shows minimal isomerase activity.	6
26158520	2015	Loss of apoptosis-inducing factor critically affects MIA40 function.	47
26178476	2015	Metabolic epistasis among apoptosis-inducing factor and the mitochondrial import factor CHCHD4.	5
26275620	2015	Human 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/css/gene-fusions/haematological-explorer/