CPNE6 (copine 6)

2014-11-01  

Identity

HGNC
CPNE6
LOCATION
14q11.2
LOCUSID
9362
ALIAS
-

Other Information

Locus ID:

NCBI: 9362
MIM: 605688
HGNC: 2319
Ensembl: ENSG00000100884

Variants:

dbSNP: 9362
ClinVar: 9362
TCGA: ENSG00000100884
COSMIC: CPNE6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100884ENST00000397016O95741
ENSG00000100884ENST00000537691O95741
ENSG00000100884ENST00000557889H0YNV2
ENSG00000100884ENST00000558450H0YNP2
ENSG00000100884ENST00000558541H0YLV2
ENSG00000100884ENST00000558795H0YNV6
ENSG00000100884ENST00000558859H0YLS9
ENSG00000100884ENST00000559197H0YKJ0
ENSG00000100884ENST00000559207H0YK44
ENSG00000100884ENST00000559778H0YM67
ENSG00000100884ENST00000560356H0YNX4
ENSG00000100884ENST00000560761H0YNM7
ENSG00000100884ENST00000560828H0YLM2
ENSG00000100884ENST00000560884H0YKP1

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

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
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
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
298022032018Copine-6 Binds to SNAREs and Selectively Suppresses Spontaneous Neurotransmission.6
267239682016Increased expression of copine VI in patients with refractory epilepsy and a rat model.1

Citation

Dessen P

CPNE6 (copine 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62058/cpne6