COA4 (cytochrome c oxidase assembly factor 4 homolog)

2014-11-01  

Identity

HGNC
COA4
LOCATION
11q13.4
LOCUSID
51287
ALIAS
CHCHD8,CMC3,E2IG2

Other Information

Locus ID:

NCBI: 51287
MIM: 608016
HGNC: 24604
Ensembl: ENSG00000181924

Variants:

dbSNP: 51287
ClinVar: 51287
TCGA: ENSG00000181924
COSMIC: COA4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000181924ENST00000355693Q9NYJ1
ENSG00000181924ENST00000355693A0A024R5J6
ENSG00000181924ENST00000537289Q9NYJ1
ENSG00000181924ENST00000537289A0A024R5J6
ENSG00000181924ENST00000541455Q9NYJ1
ENSG00000181924ENST00000545127Q9NYJ1
ENSG00000181924ENST00000545127A0A024R5J6

Expression (GTEx)

0
10
20
30
40
50
60
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
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

Citation

Dessen P

COA4 (cytochrome c oxidase assembly factor 4 homolog)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61970/coa4