Property Summary

NCBI Gene PubMed Count 12
PubMed Score 5.82
PubTator Score 2.00

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Disease log2 FC p
malignant mesothelioma -2.800 0.000
psoriasis -1.200 0.000
fascioscapulohumeral muscular dystrophy 1.007 0.000
acute quadriplegic myopathy 1.489 0.000
lung cancer -2.400 0.000
lung adenocarcinoma -1.100 0.000
group 3 medulloblastoma 2.300 0.001
lung carcinoma -1.100 0.000
breast carcinoma -1.400 0.000
Breast cancer -2.600 0.000
gastric carcinoma 1.800 0.006
invasive ductal carcinoma -1.700 0.001
ovarian cancer -2.100 0.000
dermatomyositis 1.400 0.002

Synonym

Accession Q5NDL2 A8K2U1 B4DFH5 L7X1M5 Q6MZY0 Q6P985 Q6ZTV0
Symbols AOS4
AER61
EOGT1
C3orf64

Gene

PANTHER Protein Class (2)

Gene RIF (2)

PMID Text
23860037 c.1074delA mutation segregates with Adams-Oliver syndrome in the Bedouin family.
23522784 Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.

AA Sequence

MLMLFVFGVLLHEVSLSGQNEAPPNTHSIPGEPLYNYASIRLPEEHIPFFLHNNRHIATVCRKDSLCPYK      1 - 70
KHLEKLKYCWGYEKSCKPEFRFGYPVCSYVDMGWTDTLESAEDIFWKQADFGYARERLEEMHVLCQPKET     71 - 140
SDSSLVCSRYLQYCRATNLYLDLRNIKRNHDRFKEDFFQSGEIGGHCKLDIRTLTSEGQRKSPLQSWFAE    141 - 210
LQSYTQLNFRPIEDAKCDIVIEKPTYFMKLDAGVNMYHHFCDFINLYITQHVNNSFSTDVYIVMWDTSSY    211 - 280
GYGDLFSDTWNAFTDYDVIHLKTYDSKRVCFKEAVFSLLPRMRYGLFYNTPLISGCQNTGLFRAFAQHVL    281 - 350
HRLNITQEGPKDGKIRVTILARSTEYRKILNQNELVNALKTVSTFEVQIVDYKYRELGFLDQLRITHNTD    351 - 420
IFIGMHGAGLTHLLFLPDWAAVFELYNCEDERCYLDLARLRGVHYITWRRQNKVFPQDKGHHPTLGEHPK    421 - 490
FTNYSFDVEEFMYLVLQAADHVLQHPKWPFKKKHDEL                                     491 - 527
//

Text Mined References (14)

PMID Year Title
25791024 2015 N-acetylglucosamine modification in the lumen of the endoplasmic reticulum.
25488668 2015 Impaired O-linked N-acetylglucosaminylation in the endoplasmic reticulum by mutated epidermal growth factor (EGF) domain-specific O-linked N-acetylglucosamine transferase found in Adams-Oliver syndrome.
24921011 2014 Extracellular O-linked ?-N-acetylglucosamine: Its biology and relationship to human disease.
24804163 2014 Extracellular o-linked N-acetylglucosamine is enriched in stem cells derived from human umbilical cord blood.
23860037 2014 Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase.
23671640 2013 The EGF repeat-specific O-GlcNAc-transferase Eogt interacts with notch signaling and pyrimidine metabolism pathways in Drosophila.
23522784 2013 Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
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