CCDC88B (coiled-coil domain containing 88B)

2016-10-01  

Identity

HGNC
CCDC88B
LOCATION
11q13.1
LOCUSID
283234
ALIAS
BRLZ,CCDC88,HKRP3,gipie
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 283234
MIM: 611205
HGNC: 26757
Ensembl: ENSG00000168071

Variants:

dbSNP: 283234
ClinVar: 283234
TCGA: ENSG00000168071
COSMIC: CCDC88B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168071ENST00000301897A6NC98
ENSG00000168071ENST00000356786A6NC98
ENSG00000168071ENST00000359902H7BY33

Expression (GTEx)

0
50
100
150
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
212890992011Protective role of Gipie, a Girdin family protein, in endoplasmic reticulum stress responses in endothelial cells.0
228373802012A novel sarcoidosis risk locus for Europeans on chromosome 11q13.1.0
257627802015HkRP3 is a microtubule-binding protein regulating lytic granule clustering and NK cell killing.0
290306072017CCDC88B is required for pathogenesis of inflammatory bowel disease.0

Citation

Dessen P

CCDC88B (coiled-coil domain containing 88B)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56440/ccdc88b