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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Adams-Oliver syndrome Likely pathogenic; Pathogenic rs587776994 RCV000162168
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adams-Oliver syndrome 4 Pathogenic; Likely pathogenic rs1379880963, rs1312622774, rs746076695, rs185181819, rs1247059195, rs369583084, rs771160630, rs1559604548, rs587776993, rs587776994, rs587776995 RCV002795818
RCV002927791
RCV003582674
RCV000714900
RCV000662232
View all (6 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cancer of breast Pathogenic rs185181819 RCV005900100
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (21)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (45)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acquired porencephaly Acquired Porencephaly HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Adams Oliver syndrome Adams-Oliver Syndrome BEFREE 23522784, 25488668
★★★★★
★☆☆☆☆
Found in Text Mining only
Adams Oliver syndrome Adams-Oliver Syndrome ORPHANET_DG 23522784
★★★★★
★☆☆☆☆
Found in Text Mining only
Adams Oliver syndrome Adams-Oliver Syndrome CLINVAR_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Adams-Oliver syndrome Adams-Oliver Syndrome Orphanet
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adams-Oliver syndrome 1 Adams-Oliver Syndrome BEFREE 23522784, 25488668, 25824905, 26299364, 29924900, 31368252
★★★★★
★☆☆☆☆
Found in Text Mining only
Adams-Oliver syndrome 1 Adams-Oliver Syndrome GENOMICS_ENGLAND_DG 23522784
★★★★★
★☆☆☆☆
Found in Text Mining only
Adams-Oliver syndrome 1 Adams-Oliver Syndrome CTD_human_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
ADAMS-OLIVER SYNDROME 4 Adams-Oliver Syndrome CLINVAR_DG 23522784, 23860037, 29924900
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ADAMS-OLIVER SYNDROME 4 Adams-Oliver Syndrome UNIPROT_DG 23522784
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)