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

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
285203
Gene name Gene Name - the full gene name approved by the HGNC.
EGF domain specific O-linked N-acetylglucosamine transferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EOGT
Synonyms (NCBI Gene) Gene synonyms aliases
AER61, AOS4, C3orf64, EOGT1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AOS4
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p14.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(8)
GO ID Ontology Definition Evidence Reference
GO:0005788 Component Endoplasmic reticulum lumen IBA 21873635
GO:0006493 Process Protein O-linked glycosylation ISS
GO:0016262 Function Protein N-acetylglucosaminyltransferase activity IBA 21873635
GO:0016262 Function Protein N-acetylglucosaminyltransferase activity ISS
GO:0016757 Function Transferase activity, transferring glycosyl groups IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614789 28526 ENSG00000163378
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (9)
Causal
Disease term Disease name dbSNP ID References
Adams-oliver syndrome Adams Oliver syndrome, ADAMS-OLIVER SYNDROME 4, Adams-Oliver syndrome 1, Adams-Oliver syndrome rs41309764, rs387907031, rs1559999373, rs1226716539, rs387907270, rs387907271, rs397509398, rs397509399, rs587776993, rs587776994, rs587776995, rs587781259, rs587777735, rs587777736, rs730882238
View all (56 more)		 23522784, 29924900, 23860037
Aplasia cutis congenita Aplasia Cutis Congenita, Congenital defect of skull and scalp rs587777706
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Cirrhosis Cirrhosis ClinVar
Porencephalic cyst Porencephalic cyst ClinVar
Adams-Oliver Syndrome Adams-Oliver syndrome GenCC
Insomnia Insomnia GWAS
Show/Hide Text Mining Associations (9)
Associations from Text Mining
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