Property Summary

NCBI Gene PubMed Count 11
PubMed Score 36.45
PubTator Score 5.84

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (33)

Disease log2 FC p
Rheumatoid Arthritis 1.300 1.7e-03
gastric cancer 1.200 1.7e-03
hepatocellular carcinoma -1.700 1.7e-04
pancreatic cancer 1.200 2.7e-02
malignant mesothelioma -1.400 7.2e-07
astrocytic glioma -1.100 3.6e-02
Barrett's esophagus 1.900 2.1e-02
cutaneous lupus erythematosus 1.400 3.3e-03
psoriasis 1.200 1.1e-03
osteosarcoma -1.507 1.3e-04
atypical teratoid / rhabdoid tumor -1.100 7.2e-03
juvenile dermatomyositis 1.556 1.4e-10
tuberculosis and treatment for 6 months -2.100 8.9e-04
primary pancreatic ductal adenocarcinoma 1.029 4.1e-02
non-small cell lung cancer 1.299 2.2e-14
intraductal papillary-mucinous adenoma (... 2.500 1.2e-03
intraductal papillary-mucinous carcinoma... 2.200 5.0e-03
intraductal papillary-mucinous neoplasm ... 2.800 8.4e-03
lung cancer 1.400 4.1e-04
active Crohn's disease -1.297 4.4e-02
ulcerative colitis -1.800 1.7e-02
sarcoidosis 1.100 1.8e-02
Breast cancer 3.600 2.7e-02
non primary Sjogren syndrome sicca -1.500 1.8e-02
pancreatic carcinoma 1.200 2.7e-02
aldosterone-producing adenoma -1.317 3.7e-02
nasopharyngeal carcinoma 1.100 1.9e-03
lung adenocarcinoma 1.213 2.8e-03
breast carcinoma 1.400 3.2e-22
Pick disease -1.200 6.0e-03
ductal carcinoma in situ 1.900 8.0e-05
invasive ductal carcinoma 2.300 1.7e-04
ovarian cancer 1.500 1.1e-02

 IMPC Phenotype (1)

Protein-protein Interaction (4)

Gene RIF (6)

PMID Text
25615281 we identified novel somatic missense ETNK1 mutations that were most frequent in systemic mastocytosis with eosinophilia and chronic myelomonocytic leukemia
25343957 Recurrent ETNK1 mutations are associated with chronic myeloid leukemia.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
11912161 DAD-R, SOX5, and EKI1 map within region of chromosome 12p whose duplication is related to reduced apoptosis in human testicular seminomas.

AA Sequence

MLCGRPRSSSDNRNFLRERAGLSSAAVQTRIGNSAASRRSPAARPPVPAPPALPRGRPGTEGSTSLSAPA      1 - 70
VLVVAVAVVVVVVSAVAWAMANYIHVPPGSPEVPKLNVTVQDQEEHRCREGALSLLQHLRPHWDPQEVTL     71 - 140
QLFTDGITNKLIGCYVGNTMEDVVLVRIYGNKTELLVDRDEEVKSFRVLQAHGCAPQLYCTFNNGLCYEF    141 - 210
IQGEALDPKHVCNPAIFRLIARQLAKIHAIHAHNGWIPKSNLWLKMGKYFSLIPTGFADEDINKRFLSDI    211 - 280
PSSQILQEEMTWMKEILSNLGSPVVLCHNDLLCKNIIYNEKQGDVQFIDYEYSGYNYLAYDIGNHFNEFA    281 - 350
GVSDVDYSLYPDRELQSQWLRAYLEAYKEFKGFGTEVTEKEVEILFIQVNQFALASHFFWGLWALIQAKY    351 - 420
STIEFDFLGYAIVRFNQYFKMKPEVTALKVPE                                          421 - 452
//

Text Mined References (13)

PMID Year Title
25615281 2015 Novel recurrent mutations in ethanolamine kinase 1 (ETNK1) gene in systemic mastocytosis with eosinophilia and chronic myelomonocytic leukemia.
25416956 2014 A proteome-scale map of the human interactome network.
25343957 2015 Recurrent ETNK1 mutations in atypical chronic myeloid leukemia.
21269460 2011 Initial characterization of the human central proteome.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19946888 2010 Defining the membrane proteome of NK cells.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
16541075 2006 The finished DNA sequence of human chromosome 12.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11912161 2002 Coamplification of DAD-R, SOX5, and EKI1 in human testicular seminomas, with specific overexpression of DAD-R, correlates with reduced levels of apoptosis and earlier clinical manifestation.
11044454 2001 Overexpression of a mammalian ethanolamine-specific kinase accelerates the CDP-ethanolamine pathway.