Property Summary

NCBI Gene PubMed Count 22
Grant Count 19
R01 Count 16
Funding $1,563,806.83
PubMed Score 18.06
PubTator Score 7.48

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Disease log2 FC p
urothelial carcinoma -1.400 0.025
psoriasis -1.400 0.002
osteosarcoma -1.110 0.002
cystic fibrosis 1.547 0.000
Atopic dermatitis -1.200 0.000
pancreatic ductal adenocarcinoma liver m... -1.007 0.014
interstitial cystitis -2.000 0.000
adult high grade glioma 1.200 0.001
posterior fossa group A ependymoma 1.100 0.000
lung carcinoma -2.400 0.000
acute myeloid leukemia -2.300 0.033
ovarian cancer -2.800 0.000
pituitary cancer -1.100 0.002
facioscapulohumeral dystrophy -2.100 0.004

Gene RIF (8)

PMID Text
26265176 Data identified LC3B globular structures in esophageal adenocarcinoma patients strongly associated with patient outcome irrespective of treatment.
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)
20037589 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19648650 Data show that the SPTLC3 subunit generates C(16)-sphingoid bases and that sphingolipids with a C(16) backbone constitute a significant proportion of plasma sphingolipids.
17331073 Results suggest that functional serine palmitoyltransferase is not a dimer, but a higher organized complex, composed of three distinct subunits (SPTLC1, SPTLC2 and SPTLC3) with a molecular mass of 480 kDa.
17023427 cloning and expression in tissues and cell lines

AA Sequence

MANPGGGAVCNGKLHNHKKQSNGSQSRNCTKNGIVKEAQQNGKPHFYDKLIVESFEEAPLHVMVFTYMGY      1 - 70
GIGTLFGYLRDFLRNWGIEKCNAAVERKEQKDFVPLYQDFENFYTRNLYMRIRDNWNRPICSAPGPLFDL     71 - 140
MERVSDDYNWTFRFTGRVIKDVINMGSYNFLGLAAKYDESMRTIKDVLEVYGTGVASTRHEMGTLDKHKE    141 - 210
LEDLVAKFLNVEAAMVFGMGFATNSMNIPALVGKGCLILSDELNHTSLVLGARLSGATIRIFKHNNTQSL    211 - 280
EKLLRDAVIYGQPRTRRAWKKILILVEGVYSMEGSIVHLPQIIALKKKYKAYLYIDEAHSIGAVGPTGRG    281 - 350
VTEFFGLDPHEVDVLMGTFTKSFGASGGYIAGRKDLVDYLRVHSHSAVYASSMSPPIAEQIIRSLKLIMG    351 - 420
LDGTTQGLQRVQQLAKNTRYFRQRLQEMGFIIYGNENASVVPLLLYMPGKVAAFARHMLEKKIGVVVVGF    421 - 490
PATPLAEARARFCVSAAHTREMLDTVLEALDEMGDLLQLKYSRHKKSARPELYDETSFELED            491 - 552
//

Text Mined References (22)

PMID Year Title
26265176 2015 LC3B globular structures correlate with survival in esophageal adenocarcinoma.
25378659 2015 Genetic loci associated with circulating levels of very long-chain saturated fatty acids.
24816252 2014 An atlas of genetic influences on human blood metabolites.
24097068 2013 Discovery and refinement of loci associated with lipid levels.
23192594 2013 Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
22359512 2012 Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
21368711 2011 Genome-wide association study of personality traits in bipolar patients.
20920666 2010 Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.
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.
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