CCDC82 (coiled-coil domain containing 82)

2014-11-01  

Identity

HGNC
CCDC82
LOCATION
11q21
LOCUSID
79780
ALIAS
HSPC048

Other Information

Locus ID:

NCBI: 79780
HGNC: 26282
Ensembl: ENSG00000149231

Variants:

dbSNP: 79780
ClinVar: 79780
TCGA: ENSG00000149231
COSMIC: CCDC82

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000149231ENST00000278520Q8N4S0
ENSG00000149231ENST00000278520A0A024R3B3
ENSG00000149231ENST00000423339Q8N4S0
ENSG00000149231ENST00000423339A0A024R3B3
ENSG00000149231ENST00000530106Q8N4S0
ENSG00000149231ENST00000530203E9PMD6
ENSG00000149231ENST00000538597F5H777
ENSG00000149231ENST00000643839A0A2R8Y7C3
ENSG00000149231ENST00000644686Q8N4S0
ENSG00000149231ENST00000644686A0A024R3B3
ENSG00000149231ENST00000645366Q8N4S0
ENSG00000149231ENST00000645366A0A024R3B3
ENSG00000149231ENST00000645439Q8N4S0
ENSG00000149231ENST00000645439A0A024R3B3
ENSG00000149231ENST00000645500Q8N4S0
ENSG00000149231ENST00000645500A0A024R3B3
ENSG00000149231ENST00000646050A0A2R8YE98
ENSG00000149231ENST00000646638Q8N4S0
ENSG00000149231ENST00000646638A0A024R3B3
ENSG00000149231ENST00000646818Q8N4S0
ENSG00000149231ENST00000646818A0A024R3B3
ENSG00000149231ENST00000647080A0A2R8Y4L3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
351186592022Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.1
351186592022Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.1

Citation

Dessen P

CCDC82 (coiled-coil domain containing 82)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61569/img/css/welcome