CCDC186 (coiled-coil domain containing 186)

2003-06-01  

Identity

HGNC
CCDC186
LOCATION
10q25.3
LOCUSID
55088
ALIAS
C10orf118,CCCP-1,CCCP1,golgin104
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55088
HGNC: 24349
Ensembl: ENSG00000165813

Variants:

dbSNP: 55088
ClinVar: 55088
TCGA: ENSG00000165813
COSMIC: CCDC186

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165813ENST00000369285A0A0C4DFU7
ENSG00000165813ENST00000369286A0A0C4DFU7
ENSG00000165813ENST00000369287Q7Z3E2
ENSG00000165813ENST00000428953H0Y7V5
ENSG00000165813ENST00000648613Q7Z3E2

Expression (GTEx)

0
5
10
15
20
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

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
375696952023Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.0
375696952023Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.0
332591462021A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy.1
332591462021A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy.1

Citation

Dessen P

CCDC186 (coiled-coil domain containing 186)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/861/ccdc186-(coiled-coil-domain-containing-186)