ENTPD6 (ectonucleoside triphosphate diphosphohydrolase 6)

2014-11-01  

Identity

HGNC
ENTPD6
LOCATION
20p11.21
LOCUSID
955
ALIAS
CD39L2,IL-6SAG,IL6ST2,NTPDase-6,dJ738P15.3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 955
MIM: 603160
HGNC: 3368
Ensembl: ENSG00000197586

Variants:

dbSNP: 955
ClinVar: 955
TCGA: ENSG00000197586
COSMIC: ENTPD6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197586ENST00000354989O75354
ENSG00000197586ENST00000360031O75354
ENSG00000197586ENST00000376652O75354
ENSG00000197586ENST00000376666H0Y3D0
ENSG00000197586ENST00000417467Q5QPI7
ENSG00000197586ENST00000418890Q5QPJ7
ENSG00000197586ENST00000425813Q5QPJ3
ENSG00000197586ENST00000427553H0Y5X0
ENSG00000197586ENST00000433259Q5QPI9
ENSG00000197586ENST00000433417H0Y473
ENSG00000197586ENST00000435520Q5QPJ4
ENSG00000197586ENST00000439162Q5QPJ6
ENSG00000197586ENST00000447877H0Y6Q1

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
Purine metabolismKEGGko00230
Pyrimidine metabolismKEGGko00240
Purine metabolismKEGGhsa00230
Pyrimidine metabolismKEGGhsa00240
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Phosphate bond hydrolysis by NTPDase proteinsREACTOMER-HSA-8850843

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
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
145292832003Bacterial expression, characterization, and disulfide bond determination of soluble human NTPDase6 (CD39L2) nucleotidase: implications for structure and function.18
145292832003Bacterial expression, characterization, and disulfide bond determination of soluble human NTPDase6 (CD39L2) nucleotidase: implications for structure and function.18

Citation

Dessen P

ENTPD6 (ectonucleoside triphosphate diphosphohydrolase 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62846/js/case-report-explorer/favicon/manifest.json