Property Summary

NCBI Gene PubMed Count 32
Grant Count 5
R01 Count 5
Funding $289,139.29
PubMed Score 37.65
PubTator Score 33.04

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

Disease log2 FC p
malignant mesothelioma -3.500 0.000
astrocytic glioma -2.300 0.001
ependymoma -2.700 0.000
oligodendroglioma -2.300 0.002
glioblastoma -3.000 0.000
osteosarcoma -2.579 0.000
sonic hedgehog group medulloblastoma -2.400 0.000
atypical teratoid / rhabdoid tumor -2.900 0.000
medulloblastoma, large-cell -1.800 0.001
primitive neuroectodermal tumor -2.400 0.000
lung cancer -3.400 0.000
pediatric high grade glioma -2.700 0.000
pilocytic astrocytoma -2.400 0.000
lung carcinoma 1.200 0.000
Pick disease -1.200 0.003

Synonym

Accession P52429 Q8TBM4 Q9UKQ3 DAG kinase epsilon
Symbols DGK
AHUS7
DAGK5
DAGK6
NPHS7

Gene

PANTHER Protein Class (2)

Gene RIF (21)

PMID Text
26018111 Letter/Case Report: atypical haemolytic uraemic syndrome in a Japanese patient with DGKE genetic mutations.
25854283 Report DGKE intronic mutations located beyond the exon-intron boundaries in familial hemolytic uremic syndrome.
25498910 DGKE silencing in resting endothelial cells does not affect complement activation at their surface.
25135762 Data suggest that complement dysregulation influences the onset and disease severity in carriers of diacylglycerol kinase-epsilon mutations
24511134 Our study expands the clinical phenotypes associated with mutations in DGKE and challenges the benefits of complement blockade treatment in such patients
24119575 DGKzeta localizes to the nucleus and is considered to regulate nuclear diacylglycerol signaling.[review]
23630338 Fully activating high-density transfected muscarinic receptors (M1Rs) by oxotremorine-M (Oxo-M) leads to similar calcium, DAG, and PKC signals, but PIP2 is depleted.
23542698 Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
23274426 performed homozygosity mapping and whole exome sequencing in a Turkish consanguineous family and identified DGKE gene variants as the cause of a membranoproliferative-like glomerular microangiopathy
23261795 Substrate specificity of DGKE is not a consequence of competition with hydrolysis of ATP.
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AA Sequence

MEAERRPAPGSPSEGLFADGHLILWTLCSVLLPVFITFWCSLQRSRRQLHRRDIFRKSKHGWRDTDLFSQ      1 - 70
PTYCCVCAQHILQGAFCDCCGLRVDEGCLRKADKRFQCKEIMLKNDTKVLDAMPHHWIRGNVPLCSYCMV     71 - 140
CKQQCGCQPKLCDYRCIWCQKTVHDECMKNSLKNEKCDFGEFKNLIIPPSYLTSINQMRKDKKTDYEVLA    141 - 210
SKLGKQWTPLIILANSRSGTNMGEGLLGEFRILLNPVQVFDVTKTPPIKALQLCTLLPYYSARVLVCGGD    211 - 280
GTVGWVLDAVDDMKIKGQEKYIPQVAVLPLGTGNDLSNTLGWGTGYAGEIPVAQVLRNVMEADGIKLDRW    281 - 350
KVQVTNKGYYNLRKPKEFTMNNYFSVGPDALMALNFHAHREKAPSLFSSRILNKAVYLFYGTKDCLVQEC    351 - 420
KDLNKKVELELDGERVALPSLEGIIVLNIGYWGGGCRLWEGMGDETYPLARHDDGLLEVVGVYGSFHCAQ    421 - 490
IQVKLANPFRIGQAHTVRLILKCSMMPMQVDGEPWAQGPCTVTITHKTHAMMLYFSGEQTDDDISSTSDQ    491 - 560
EDIKATE                                                                   561 - 567
//

Text Mined References (34)

PMID Year Title
26018111 2015 Atypical haemolytic uraemic syndrome in a Japanese patient with DGKE genetic mutations.
25854283 2015 Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome.
25498910 2015 Loss of DGK? induces endothelial cell activation and death independently of complement activation.
25135762 2014 Complement mutations in diacylglycerol kinase-?-associated atypical hemolytic uremic syndrome.
24511134 2014 Phenotypic expansion of DGKE-associated diseases.
24119575 2014 DGK? under stress conditions: “to be nuclear or cytoplasmic, that is the question”.
23630338 2013 Quantitative properties and receptor reserve of the DAG and PKC branch of G(q)-coupled receptor signaling.
23542698 2013 Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
23274426 2013 DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN.
23261795 2013 The basis of the substrate specificity of the epsilon isoform of human diacylglycerol kinase is not a consequence of competing hydrolysis of ATP.
More...