Entity Details

Primary name EOGT
Entity type gene
Source Source Link

Details

PrimaryID285203
RefseqGeneNG_042829
SymbolEOGT
NameEGF domain specific O-linked N-acetylglucosamine transferase
Chromosome3
Location3p14.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-12-14
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsEOGT_HUMAN

GO terms

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GOName
GO:0005788 endoplasmic reticulum lumen
GO:0006493 protein O-linked glycosylation
GO:0016262 protein N-acetylglucosaminyltransferase activity
GO:0016757 glycosyltransferase activity
GO:0097363 protein O-GlcNAc transferase activity
GO:0097370 protein O-GlcNAcylation via threonine

Diseases

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Disease IDSourceNameDescription
615297 OMIMAdams-Oliver syndrome 4 (AOS4)A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. The disease is caused by variants affecting the gene represented in this entry.

Interactions

25 interactions

InteractorPartnerSourcesPublicationsLink
EOGTLRRK2IntAct24947832 details
EOGTSLC7A14BioGRID, IntAct32296183 details
EOGTSLC13A4BioGRID, IntAct32296183 details
EOGTFAM209ABioGRID, IntAct32296183 details
EOGTAPPBioGRID21832049 details
EOGTRACGAP1BioGRID, IntAct26496610 details
EOGTSAMD9BioGRID, IntAct26496610 details
EOGTSCGB2A2BioGRID, IntAct28514442 details
EOGTSCGB1D1BioGRID, IntAct28514442 details
EOGTPLAURBioGRID, IntAct26186194 28514442 details
EOGTF9BioGRID, IntAct28514442 details
EOGTPSG8BioGRID, IntAct28514442 details
EOGTPTPRKBioGRID, IntAct26186194 28514442 details
EOGTINSL5BioGRID, IntAct28514442 details
EOGTLYZL1BioGRID, IntAct28514442 details
EOGTPRG3BioGRID, IntAct28514442 details
EOGTPLA2G10BioGRID, IntAct28514442 details
EOGTIFI30BioGRID, IntAct26186194 28514442 details
EOGTLYPD1BioGRID, IntAct28514442 details
EOGTA2MBioGRID, IntAct28514442 details
EOGTH1-5BioGRID, IntAct30021884 details
EOGTEYA4BioGRID27432908 details
EOGTASS1BioGRID31536960 details
EOGTFAM20CBioGRID32149426 details
EOGTHNRNPLBioGRID28611215 details