Property Summary

NCBI Gene PubMed Count 16
PubMed Score 0.47
PubTator Score 0.33

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count P-value
non-small cell lung cancer 2798 4.78990951043923E-16
ovarian cancer 8492 9.55321860926663E-11
lung adenocarcinoma 2714 5.20635333049606E-10
ependymoma 2514 8.70773849693406E-8
pilocytic astrocytoma 3086 2.82513299703861E-7
atypical teratoid / rhabdoid tumor 4369 5.80616671914416E-7
adult high grade glioma 2148 2.70979783685956E-6
sonic hedgehog group medulloblastoma 1482 1.63249615646314E-5
osteosarcoma 7933 2.14166094944215E-4
medulloblastoma, large-cell 6234 3.16289530428382E-4
glioblastoma 5572 4.31517667449626E-4
Breast cancer 3099 0.0268437126604145
Disease Target Count Z-score Confidence
Acquired metabolic disease 267 0.0 2.0
Type 1 diabetes mellitus 104 0.0 2.0

Expression

  Differential Expression (12)

Disease log2 FC p
osteosarcoma 1.033 0.000
ependymoma -1.100 0.000
glioblastoma -1.200 0.000
atypical teratoid / rhabdoid tumor -1.600 0.000
sonic hedgehog group medulloblastoma -1.500 0.000
medulloblastoma, large-cell -1.700 0.000
non-small cell lung cancer -1.060 0.000
adult high grade glioma -1.500 0.000
pilocytic astrocytoma -1.300 0.000
lung adenocarcinoma -1.900 0.000
ovarian cancer 1.100 0.000
Breast cancer 1.600 0.027

Synonym

Accession Q9Y2G0 B7WPL8 Q86XU6
Symbols KIAA0953

Gene

  Ortholog (13)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG
Opossum EggNOG Inparanoid
Chicken OMA Inparanoid
Xenopus OMA EggNOG Inparanoid
Zebrafish OMA Inparanoid
C. elegans OMA EggNOG Inparanoid

Gene RIF (3)

PMID Text
25380825 These data suggest that mammalian Efr3s contribute to the control of the phosphorylation state and, hence, desensitization of AT1a receptors, and could affect responsiveness of G-protein-coupled receptors in higher eukaryotes.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MYGVCGCCGALRPRYKRLVDNIFPEDPEDGLVKTNMEKLTFYALSAPEKLDRIGAYLSERLIRDVGRHRY      1 - 70
GYVCIAMEALDQLLMACHCQSINLFVESFLKMVAKLLESEKPNLQILGTNSFVKFANIEEDTPSYHRSYD     71 - 140
FFVSRFSEMCHSSHDDLEIKTKIRMSGIKGLQGVVRKTVNDELQANIWDPQHMDKIVPSLLFNLQHVEEA    141 - 210
ESRSPSPLQAPEKEKESPAELAERCLRELLGRAAFGNIKNAIKPVLIHLDNHSLWEPKVFAIRCFKIIMY    211 - 280
SIQPQHSHLVIQQLLGHLDANSRSAATVRAGIVEVLSEAAVIAATGSVGPTVLEMFNTLLRQLRLSIDYA    281 - 350
LTGSYDGAVSLGTKIIKEHEERMFQEAVIKTVGSFASTLPTYQRSEVILFIMSKVPRPSLHQAVDTGRTG    351 - 420
ENRNRLTQIMLLKSLLQVSTGFQCNNMMSALPSNFLDRLLSTALMEDAEIRLFVLEILISFIDRHGNRHK    421 - 490
FSTISTLSDISVLKLKVDKCSRQDTVFMKKHSQQLYRHIYLSCKEETNVQKHYEALYGLLALISIELANE    491 - 560
EVVVDLIRLVLAVQDVAQVNEENLPVYNRCALYALGAAYLNLISQLTTVPAFCQHIHEVIETRKKEAPYM    561 - 630
LPEDVFVERPRLSQNLDGVVIELLFRQSKISEVLGGSGYNSDRLCLPYIPQLTDEDRLSKRRSIGETISL    631 - 700
QVEVESRNSPEKEERVPAEEITYETLKKAIVDSVAVEEQERERRRQVVEKFQKAPFEEIAAHCGARASLL    701 - 770
QSKLNQIFEITIRPPPSPSGTITAAYGQPQNHSIPVYEMKFPDLCVY                           771 - 817
//

Text Mined References (21)

PMID Year Title
26571211 2016 The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane.
25608530 2015 Plasticity of PI4KIII? interactions at the plasma membrane.
25380825 2015 EFR3s are palmitoylated plasma membrane proteins that control responsiveness to G-protein-coupled receptors.
23669352 2013 Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
23517042 2013 Genome-wide association study of body mass index in 23 000 individuals with and without asthma.
23229899 2012 PtdIns4P synthesis by PI4KIII? at the plasma membrane and its impact on plasma membrane identity.
21980299 2011 A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
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.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
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