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Aliases for EOGT Gene

Aliases for EOGT Gene

  • EGF Domain Specific O-Linked N-Acetylglucosamine Transferase 2 3 5
  • EGF Domain-Specific O-Linked N-Acetylglucosamine (GlcNAc) Transferase 2 3
  • Extracellular O-Linked N-Acetylglucosamine Transferase 3 4
  • AER61 Glycosyltransferase 2 3
  • C3orf64 3 4
  • AER61 3 4
  • EOGT1 3 4
  • EGF Domain-Specific O-Linked N-Acetylglucosamine Transferase 3
  • Chromosome 3 Open Reading Frame 64 2
  • EGF-O-GlcNAc Transferase 3
  • EC 2.4.1.255 4
  • AOS4 3

External Ids for EOGT Gene

Previous HGNC Symbols for EOGT Gene

  • C3orf64

Previous GeneCards Identifiers for EOGT Gene

  • GC03M069025

Summaries for EOGT Gene

Entrez Gene Summary for EOGT 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 factor (EGF)-like domains, including the Notch receptor, thereby regulating developmental signalling. Mutations in this gene have been observed in individuals with Adams-Oliver syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

GeneCards Summary for EOGT Gene

EOGT (EGF Domain Specific O-Linked N-Acetylglucosamine Transferase) is a Protein Coding gene. Diseases associated with EOGT include Adams-Oliver Syndrome 4 and Adams-Oliver Syndrome. Among its related pathways are Other types of O-glycan biosynthesis. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and protein N-acetylglucosaminyltransferase activity. An important paralog of this gene is POMGNT2.

UniProtKB/Swiss-Prot for EOGT Gene

  • 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 Thr residue located between the fifth and sixth conserved cysteines of folded EGF-like domains.

Additional gene information for EOGT Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EOGT Gene

Genomics for EOGT Gene

GeneHancer (GH) Regulatory Elements for EOGT Gene

Promoters and enhancers for EOGT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I069008 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 555.1 +2.4 2381 6.4 CLOCK ARID4B SIN3A DMAP1 ZNF766 ZNF143 SP3 MXD4 REST ZNF592 EOGT TMF1 ENSG00000244513 UBA3 ARL6IP5 GC03P068964
GH03I069079 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.5 -74.6 -74568 18.9 HDGF PKNOX1 SMAD1 ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 IRF4 ARL6IP5 UBA3 TMF1 EOGT LMOD3 GC03M069083
GH03I069197 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 4.2 -186.0 -186016 4.6 PKNOX1 ATF1 FOXA2 ARID4B NEUROD1 DMAP1 YY1 FOS RUNX3 SP3 LMOD3 EOGT RBM43P1 FRMD4B
GH03I069057 Enhancer 0.8 ENCODE dbSUPER 7.5 -44.7 -44728 2.6 ZNF687 MAX EBF1 ELF1 IRF4 NBN ETV6 IKZF2 RUNX3 MYC ARL6IP5 UBA3 EOGT GC03P069062 TMF1
GH03I069121 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 4.3 -108.4 -108361 1.8 CTCF IKZF1 JUN LMOD3 EOGT GC03M069083
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EOGT on UCSC Golden Path with GeneCards custom track

Genomic Locations for EOGT Gene

Genomic Locations for EOGT Gene
chr3:68,975,212-69,013,961
(GRCh38/hg38)
Size:
38,750 bases
Orientation:
Minus strand
chr3:69,024,365-69,063,112
(GRCh37/hg19)

Genomic View for EOGT Gene

Genes around EOGT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EOGT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EOGT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EOGT Gene

Proteins for EOGT Gene

  • Protein details for EOGT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5NDL2-EOGT_HUMAN
    Recommended name:
    EGF domain-specific O-linked N-acetylglucosamine transferase
    Protein Accession:
    Q5NDL2
    Secondary Accessions:
    • A8K2U1
    • B4DFH5
    • L7X1M5
    • Q6MZY0
    • Q6P985
    • Q6ZTV0

    Protein attributes for EOGT Gene

    Size:
    527 amino acids
    Molecular mass:
    62011 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAF83045.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG57436.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for EOGT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EOGT Gene

Post-translational modifications for EOGT Gene

  • Glycosylation at posLast=354354
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EOGT Gene

Domains & Families for EOGT Gene

Gene Families for EOGT Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for EOGT Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q5NDL2

UniProtKB/Swiss-Prot:

EOGT_HUMAN :
  • Belongs to the glycosyltransferase 61 family.
Family:
  • Belongs to the glycosyltransferase 61 family.
genes like me logo Genes that share domains with EOGT: view

Function for EOGT Gene

Molecular function for EOGT Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-alpha-D-glucosamine + [protein]-L-serine = UDP + [protein]-3-O-(N-acetyl-beta-D-glucosaminyl)-L-serine.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-alpha-D-glucosamine + [protein]-L-threonine = UDP + [protein]-3-O-(N-acetyl-beta-D-glucosaminyl)-L-threonine.
UniProtKB/Swiss-Prot 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 Thr residue located between the fifth and sixth conserved cysteines of folded EGF-like domains.

Enzyme Numbers (IUBMB) for EOGT Gene

Gene Ontology (GO) - Molecular Function for EOGT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016262 protein N-acetylglucosaminyltransferase activity ISS --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with EOGT: view
genes like me logo Genes that share phenotypes with EOGT: view

Human Phenotype Ontology for EOGT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for EOGT Gene

miRTarBase miRNAs that target EOGT

Inhibitory RNA Products

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for EOGT Gene

Localization for EOGT Gene

Subcellular locations from UniProtKB/Swiss-Prot for EOGT Gene

Endoplasmic reticulum lumen.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EOGT gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 2
nucleus 2
cytosol 2
plasma membrane 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear membrane (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EOGT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005788 endoplasmic reticulum lumen IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with EOGT: view

Pathways & Interactions for EOGT Gene

genes like me logo Genes that share pathways with EOGT: view

Pathways by source for EOGT Gene

1 KEGG pathway for EOGT Gene

Interacting Proteins for EOGT Gene

Gene Ontology (GO) - Biological Process for EOGT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006493 protein O-linked glycosylation ISS --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with EOGT: view

No data available for SIGNOR curated interactions for EOGT Gene

Drugs & Compounds for EOGT Gene

(1) Drugs for EOGT Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine-5'-Diphosphate Experimental Pharma 0

(1) Additional Compounds for EOGT Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Uridine diphosphate-N-acetylglucosamine
  • N-[2-[[[5-[(2,4-Dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide
  • UDP-a-D-N-Acetylglucosamine
  • UDP-Acetyl-D-glucosamine
  • UDP-Acetyl-delta-glucosamine
  • UDP-Acetylglucosamine
528-04-1
genes like me logo Genes that share compounds with EOGT: view

Transcripts for EOGT Gene

Unigene Clusters for EOGT Gene

EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for EOGT Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17a · 17b ^ 18 ^ 19 ^
SP1: - - - -
SP2: - - - - - - -
SP3: - - -
SP4: - - -
SP5: - -
SP6:

ExUns: 20
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for EOGT Gene

GeneLoc Exon Structure for
EOGT
ECgene alternative splicing isoforms for
EOGT

Expression for EOGT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EOGT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EOGT Gene

This gene is overexpressed in Uterus (19.0), Stomach (10.4), and Seminal vesicle (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EOGT Gene



Protein tissue co-expression partners for EOGT Gene

NURSA nuclear receptor signaling pathways regulating expression of EOGT Gene:

EOGT

SOURCE GeneReport for Unigene cluster for EOGT Gene:

Hs.518059

Evidence on tissue expression from TISSUES for EOGT Gene

  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EOGT Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • nose
  • outer ear
  • scalp
  • skull
Thorax:
  • aorta
  • breast
  • chest wall
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
Pelvis:
  • placenta
  • uterus
Limb:
  • ankle
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with EOGT: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for EOGT Gene

Orthologs for EOGT Gene

This gene was present in the common ancestor of animals.

Orthologs for EOGT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EOGT 33 34
  • 99.75 (n)
dog
(Canis familiaris)
Mammalia EOGT 33 34
  • 89.86 (n)
cow
(Bos Taurus)
Mammalia EOGT 33 34
  • 87.67 (n)
mouse
(Mus musculus)
Mammalia Eogt 33 16 34
  • 84.82 (n)
rat
(Rattus norvegicus)
Mammalia Eogt 33
  • 84.5 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EOGT 34
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EOGT 34
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves C3ORF64 34 33
  • 74.58 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EOGT 34
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eogt 33
  • 67.63 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7160 33
zebrafish
(Danio rerio)
Actinopterygii LOC798087 33
  • 64.74 (n)
eogt 34
  • 53 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009279 33
  • 54.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta Eogt 33 34
  • 53.32 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_H12D21.10 33
  • 51.99 (n)
H12D21.10 34
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 34 (a)
OneToMany
-- 34
  • 33 (a)
OneToMany
Species where no ortholog for EOGT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EOGT Gene

ENSEMBL:
Gene Tree for EOGT (if available)
TreeFam:
Gene Tree for EOGT (if available)

Paralogs for EOGT Gene

Paralogs for EOGT Gene

genes like me logo Genes that share paralogs with EOGT: view

Variants for EOGT Gene

Sequence variations from dbSNP and Humsavar for EOGT Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs35545453 benign, Adams-Oliver syndrome 4 68,982,812(-) T/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs587776993 pathogenic, Adams-Oliver syndrome 4, Adams-Oliver syndrome 4 (AOS4) [MIM:615297] 69,004,378(-) C/G 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs587776994 pathogenic, likely-pathogenic, Adams-Oliver syndrome 4, Adams-Oliver syndrome 68,988,304(-) TT/T coding_sequence_variant, frameshift, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant
rs587776995 pathogenic, Adams-Oliver syndrome 4, Adams-Oliver syndrome 4 (AOS4) [MIM:615297] 68,987,467(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs116138787 likely-benign, not provided 69,004,435(-) T/A 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for EOGT Gene

Variant ID Type Subtype PubMed ID
esv2725383 CNV deletion 23290073
esv3369576 CNV duplication 20981092
nsv237873 CNV deletion 16902084
nsv478083 CNV novel sequence insertion 20440878

Variation tolerance for EOGT Gene

Residual Variation Intolerance Score: 34.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.23; 62.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EOGT Gene

Human Gene Mutation Database (HGMD)
EOGT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EOGT

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EOGT Gene

Disorders for EOGT Gene

MalaCards: The human disease database

(6) MalaCards diseases for EOGT Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
adams-oliver syndrome 4
  • aos4
adams-oliver syndrome
  • adams oliver syndrome
oliver syndrome
  • postaxial polydactyly and mental retardation
aplasia cutis congenita
  • acc
esophageal varix
  • bleeding esophageal varices
- elite association - COSMIC cancer census association via MalaCards
Search EOGT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EOGT_HUMAN
  • Adams-Oliver syndrome 4 (AOS4) [MIM:615297]: 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. {ECO:0000269 PubMed:23522784}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for EOGT

genes like me logo Genes that share disorders with EOGT: view

No data available for Genatlas for EOGT Gene

Publications for EOGT Gene

  1. Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. (PMID: 23522784) Shaheen R … Alkuraya FS (American journal of human genetics 2013) 3 4 58
  2. The EGF repeat-specific O-GlcNAc-transferase Eogt interacts with notch signaling and pyrimidine metabolism pathways in Drosophila. (PMID: 23671640) Müller R … Stanley P (PloS one 2013) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. O-GlcNAc on NOTCH1 EGF repeats regulates ligand-induced Notch signaling and vascular development in mammals. (PMID: 28395734) Sawaguchi S … Okajima T (eLife 2017) 3 58

Products for EOGT Gene

Sources for EOGT Gene

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