CCDC62 (coiled-coil domain containing 62)

2009-05-01  

Identity

HGNC
CCDC62
LOCATION
12q24.31
LOCUSID
84660
ALIAS
CT109,ERAP75,TSP-NY

Other Information

Locus ID:

NCBI: 84660
MIM: 613481
HGNC: 30723
Ensembl: ENSG00000130783

Variants:

dbSNP: 84660
ClinVar: 84660
TCGA: ENSG00000130783
COSMIC: CCDC62

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130783ENST00000253079Q6P9F0
ENSG00000130783ENST00000341952Q6P9F0
ENSG00000130783ENST00000392440A0A024RBT8
ENSG00000130783ENST00000392441Q6P9F0
ENSG00000130783ENST00000537566Q6P9F0
ENSG00000130783ENST00000539171F5H0F1

Expression (GTEx)

0
10
20
30
40
50
60
70
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
270357082016Possible association of CCDC62 rs12817488 polymorphism and Parkinson's disease risk in Chinese population: a meta-analysis.2
272699662016Genetic risk of Parkinson's disease in the general population.5
270357082016Possible association of CCDC62 rs12817488 polymorphism and Parkinson's disease risk in Chinese population: a meta-analysis.2
272699662016Genetic risk of Parkinson's disease in the general population.5
258181632015The single nucleotide polymorphism Rs12817488 is associated with Parkinson's disease in the Chinese population.5
258181632015The single nucleotide polymorphism Rs12817488 is associated with Parkinson's disease in the Chinese population.5
243350922014CCDC62 variant rs12817488 is associated with the risk of Parkinson's disease in a Han Chinese population.5
243350922014CCDC62 variant rs12817488 is associated with the risk of Parkinson's disease in a Han Chinese population.5
243121762013Genetic association study between STK39 and CCDC62/HIP1R and Parkinson's disease.12
243121762013Genetic association study between STK39 and CCDC62/HIP1R and Parkinson's disease.12
191266432009CCDC62/ERAP75 functions as a coactivator to enhance estrogen receptor beta-mediated transactivation and target gene expression in prostate cancer cells.28
191658542009Identification of CCDC62-2 as a novel cancer/testis antigen and its immunogenicity.4
191266432009CCDC62/ERAP75 functions as a coactivator to enhance estrogen receptor beta-mediated transactivation and target gene expression in prostate cancer cells.28
191658542009Identification of CCDC62-2 as a novel cancer/testis antigen and its immunogenicity.4
185637142008ERAP75 functions as a coactivator to enhance estrogen receptor alpha transactivation in prostate stromal cells.7

Citation

Dessen P

CCDC62 (coiled-coil domain containing 62)

Atlas Genet Cytogenet Oncol Haematol. 2009-05-01

Online version: http://atlasgeneticsoncology.org/gene/50903/gene-explorer/gene-fusions-explorer/case-report-explorer/