EOGT (EGF domain specific O-linked N-acetylglucosamine transferase)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 285203
Gene name EGF domain specific O-linked N-acetylglucosamine transferase
Gene symbol EOGT
Synonyms (NCBI Gene)
AER61AOS4C3orf64EOGT1
Chromosome 3
Chromosome location 3p14.1
Summary This gene encodes an enzyme that acts in the lumen of the endoplasmic reticulum to catalyze the transfer of N-acetylglucosamine to serine or threonine residues of extracellular-targeted proteins. This enzyme modifies proteins containing eukaryotic growth
SNPs SNP information provided by dbSNP.
8
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (8)
SNP ID Visualize variation Clinical significance Consequence
rs185181819 C>T Pathogenic Splice acceptor variant, genic downstream transcript variant
rs369583084 C>A Pathogenic Genic upstream transcript variant, splice donor variant
rs587776993 C>G Pathogenic 5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs587776994 T>- Pathogenic, likely-pathogenic Coding sequence variant, non coding transcript variant, frameshift variant, intron variant, genic downstream transcript variant
rs587776995 C>T Pathogenic Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
259
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (259)
miRTarBase ID miRNA Experiments Reference
MIRT020654 hsa-miR-155-5p Proteomics 18668040
MIRT021350 hsa-miR-9-5p Microarray 17612493
MIRT021748 hsa-miR-132-3p Microarray 17612493
MIRT022493 hsa-miR-124-3p Microarray 18668037
MIRT026413 hsa-miR-192-5p Microarray 19074876
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (11)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005788 Component Endoplasmic reticulum lumen IBA
GO:0005788 Component Endoplasmic reticulum lumen IEA
GO:0006493 Process Protein O-linked glycosylation IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614789 28526 ENSG00000163378
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5NDL2
Protein name EGF domain-specific O-linked N-acetylglucosamine transferase (EC 2.4.1.255) (Extracellular O-linked N-acetylglucosamine transferase)
Protein function Catalyzes the transfer of a single N-acetylglucosamine from UDP-GlcNAc to a serine or threonine residue in extracellular proteins resulting in their modification with a beta-linked N-acetylglucosamine (O-GlcNAc). Specifically glycosylates the Th
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04577 DUF563 245 → 472 Protein of unknown function (DUF563) Family
Sequence 
MLMLFVFGVLLHEVSLSGQNEAPPNTHSIPGEPLYNYASIRLPEEHIPFFLHNNRHIATV
CRKDSLCPYKKHLEKLKYCWGYEKSCKPEFRFGYPVCSYVDMGWTDTLESAEDIFWKQAD
FGYARERLEEMHVLCQPKETSDSSLVCSRYLQYCRATNLYLDLRNIKRNHDRFKEDFFQS
GEIGGHCKLDIRTLTSEGQRKSPLQSWFAELQSYTQLNFRPIEDAKCDIVIEKPTYFMKL
DAGVNMYHHFCDFINLYITQHVNNSFSTDVYIVMWDTSSYGYGDLFSDTWNAFTDYDVIH
LKTYDSKRVCFKEAVFSLLPRMRYGLFYNTPLISGCQNTGLFRAFAQHVLHRLNITQEGP
KDGKIRVTILARSTEYRKILNQNELVNALKTVSTFEVQIVDYKYRELGFLDQLRITHNTD
IFIGMHGAGLTHLLFLPDWAAVFELYNCEDERCYLDLARLRGVHYITWRRQNKVFPQDKG
HHPTLGEHPKFTNYSFDVEEFMYLVLQAADHVLQHPKWPFKKKHDEL
Sequence length 527
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Other types of O-glycan biosynthesis  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
173
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adams-Oliver syndrome Likely pathogenic; Pathogenic rs587776994 RCV000162168
Adams-Oliver syndrome 4 Pathogenic; Likely pathogenic rs1379880963, rs1312622774, rs746076695, rs185181819, rs1247059195, rs369583084, rs771160630, rs1559604548, rs587776993, rs587776994, rs587776995 RCV002795818
RCV002927791
RCV003582674
RCV000714900
RCV000662232
RCV000662231
RCV000662245
RCV000687552
RCV000049241
RCV000049242
RCV000049243
Familial cancer of breast Pathogenic rs185181819 RCV005900100
Show/Hide Unknown Diseases (19)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs35545453 RCV005897008
Adrenocortical carcinoma, hereditary Benign rs35545453 RCV005897011
Cholangiocarcinoma Benign rs6549171, rs9812253 RCV005914658
RCV005916658
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs35545453 RCV005897020
Show/Hide Text Mining Associations (9)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adams Oliver syndrome Associate 23522784, 23860037, 26299364, 29924900, 36059114
Blister Associate 23522784
Carcinoma Hepatocellular Associate 35069551
Carcinoma Pancreatic Ductal Associate 33562410
Carcinoma Squamous Cell Associate 36059114
Ectodermal Dysplasia Associate 36059114
Hepatitis Autoimmune Associate 35069551
Neoplasms Associate 35069551
Pancreatic Neoplasms Associate 33562410