CCDC47 (coiled-coil domain containing 47)

2014-11-01  

Identity

HGNC
CCDC47
LOCATION
17q23.3
LOCUSID
57003
ALIAS
GK001,MSTP041,THNS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57003
MIM: 618260
HGNC: 24856
Ensembl: ENSG00000108588

Variants:

dbSNP: 57003
ClinVar: 57003
TCGA: ENSG00000108588
COSMIC: CCDC47

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108588ENST00000225726Q96A33
ENSG00000108588ENST00000403162Q96A33
ENSG00000108588ENST00000580986J3KRX4
ENSG00000108588ENST00000582252Q96A33
ENSG00000108588ENST00000612558A0A087WYW6

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
250099972014Contribution of calumin to embryogenesis through participation in the endoplasmic reticulum-associated degradation activity.5
250099972014Contribution of calumin to embryogenesis through participation in the endoplasmic reticulum-associated degradation activity.5

Citation

Dessen P

CCDC47 (coiled-coil domain containing 47)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61547/ccdc47-(coiled-coil-domain-containing-47)