CCDC102B (coiled-coil domain containing 102B)

2014-11-01  

Identity

HGNC
CCDC102B
LOCATION
18q22.1
LOCUSID
79839
ALIAS
ACY1L,AN,C18orf14,HsT1731
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79839
HGNC: 26295
Ensembl: ENSG00000150636

Variants:

dbSNP: 79839
ClinVar: 79839
TCGA: ENSG00000150636
COSMIC: CCDC102B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000150636ENST00000360242Q68D86
ENSG00000150636ENST00000578970J3KRG3
ENSG00000150636ENST00000581520J3KRT2
ENSG00000150636ENST00000582371J3QL62
ENSG00000150636ENST00000584156Q68D86
ENSG00000150636ENST00000584775J3QLG6

Expression (GTEx)

0
5
10
15
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
297250042018CCDC102B confers risk of low vision and blindness in high myopia.26
304048352018CCDC102B functions in centrosome linker assembly and centrosome cohesion.8
297250042018CCDC102B confers risk of low vision and blindness in high myopia.26
304048352018CCDC102B functions in centrosome linker assembly and centrosome cohesion.8
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

CCDC102B (coiled-coil domain containing 102B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61461/case-report-explorer/favicon/meetings/