CHCHD7 (coiled-coil-helix-coiled-coil-helix domain containing 7)

2007-06-01  

Identity

HGNC
CHCHD7
LOCATION
8q12.1
LOCUSID
79145
ALIAS
COX23
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79145
MIM: 611238
HGNC: 28314
Ensembl: ENSG00000170791

Variants:

dbSNP: 79145
ClinVar: 79145
TCGA: ENSG00000170791
COSMIC: CHCHD7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170791ENST00000303759Q9BUK0
ENSG00000170791ENST00000355315Q9BUK0
ENSG00000170791ENST00000396723J3KPV1
ENSG00000170791ENST00000517636E5RJ08
ENSG00000170791ENST00000517933E5RFN2
ENSG00000170791ENST00000518801Q9BUK0
ENSG00000170791ENST00000519367Q9BUK0
ENSG00000170791ENST00000521524Q9BUK0
ENSG00000170791ENST00000521831Q9BUK0
ENSG00000170791ENST00000521982E5RII1
ENSG00000170791ENST00000523061E5RHM5
ENSG00000170791ENST00000523532E5RJ15
ENSG00000170791ENST00000523667E5RJ15
ENSG00000170791ENST00000523975Q9BUK0

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
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
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
228420482012Structural characterization of CHCHD5 and CHCHD7: two atypical human twin CX9C proteins.18
228420482012Structural characterization of CHCHD5 and CHCHD7: two atypical human twin CX9C proteins.18
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.28
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.28
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
192660772009Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966.62
192660772009Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966.62
167365002006CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas.27
167365002006CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas.27

Citation

Dessen P

CHCHD7 (coiled-coil-helix-coiled-coil-helix domain containing 7)

Atlas Genet Cytogenet Oncol Haematol. 2007-06-01

Online version: http://atlasgeneticsoncology.org/gene/44028