CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10)

2014-11-01  

Identity

HGNC
CHCHD10
LOCATION
22q11.23
LOCUSID
400916
ALIAS
C22orf16,FTDALS2,IMMD,MIX17A,N27C7-4,SMAJ
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 400916
MIM: 615903
HGNC: 15559
Ensembl: ENSG00000250479

Variants:

dbSNP: 400916
ClinVar: 400916
TCGA: ENSG00000250479
COSMIC: CHCHD10

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000250479ENST00000401675B5MBW9
ENSG00000250479ENST00000484558Q8WYQ3
ENSG00000250479ENST00000517886E5RGN4
ENSG00000250479ENST00000520222E5RH03

Expression (GTEx)

0
50
100
150
200
250
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
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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
285855422017Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity.29
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
280693112017Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients.15
208888002010Functional annotation of heart enriched mitochondrial genes GBAS and CHCHD10 through guilt by association.13
208888002010Functional annotation of heart enriched mitochondrial genes GBAS and CHCHD10 through guilt by association.13
291212672018Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
295404772018The cellular stress proteins CHCHD10 and MNRR1 (CHCHD2): Partners in mitochondrial and nuclear function and dysfunction.10
300849722018CHCHD2 accumulates in distressed mitochondria and facilitates oligomerization of CHCHD10.8

Citation

Dessen P

CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61790/chchd10-(coiled-coil-helix-coiled-coil-helix-domain-containing-10)