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 ... See more...

Aliases for EOGT Gene

Aliases for EOGT Gene

  • EGF Domain Specific O-Linked N-Acetylglucosamine Transferase 2 3 5
  • AER61 2 3 4
  • EGF Domain-Specific O-Linked N-Acetylglucosamine (GlcNAc) Transferase 2 3
  • EGF Domain-Specific O-Linked N-Acetylglucosamine Transferase 3 4
  • Extracellular O-Linked N-Acetylglucosamine Transferase 3 4
  • AER61 Glycosyltransferase 2 3
  • C3orf64 3 4
  • EOGT1 3 4
  • Chromosome 3 Open Reading Frame 64 2
  • EGF-O-GlcNAc Transferase 3
  • EC 2.4.1.255 4
  • FLJ33770 2
  • AOS4 3
  • EOGT 5

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 Mucin type 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 Summary 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EOGT Gene

Genomics for EOGT Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH03J069008 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 605 +2.4 2371 6.4 GATAD2A CTCF TEAD4 ZNF629 IKZF1 KDM1A ZNF692 POLR2A BACH1 LARP7 EOGT TMF1 ENSG00000244513 UBA3 ARL6IP5 piR-36588-279 TAFA4
GH03J069023 Promoter 0.3 EPDnew 600.4 -9.3 -9321 0.1 EOGT ARL6IP5 lnc-TMF1-1 lnc-EOGT-1 ENSG00000244513 TMF1
GH03J069050 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.1 -37.7 -37652 3.6 BRCA1 CREB1 ATF7 TEAD4 PRDM10 ZNF629 RFX1 POLR2A JUND FOXA1 TMF1 lnc-ARL6IP5-6 ENSG00000244513 UBA3 ARL6IP5 EOGT LMOD3 MIR3136
GH03J069079 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 7.9 -74.0 -73993 19.9 SP1 PRDM10 ZNF629 TFE3 LEF1 IKZF1 KDM1A ZNF692 POLR2A BACH1 ARL6IP5 UBA3 EOGT TMF1 LMOD3 HQ292135 lnc-TMF1-2 piR-61945-357
GH03J069197 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 4.2 -186.0 -186016 4.6 CREB1 GATAD2A PRDM10 REST ZNF629 LEF1 IKZF1 NFRKB TARDBP ZHX2 FRMD4B LMOD3 EOGT RF00017-4041 RF00017-4042 lnc-LMOD3-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EOGT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EOGT

Genomic Locations for EOGT Gene

Genomic Locations for EOGT Gene
chr3:68,975,217-69,013,961
(GRCh38/hg38)
Size:
38,745 bases
Orientation:
Minus strand
chr3:69,024,365-69,063,112
(GRCh37/hg19)
Size:
38,748 bases
Orientation:
Minus strand

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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAG57436.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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 Asn354
  • 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 intracellular proteins
  • Predicted membrane proteins

Protein Domains for EOGT Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EOGT Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ75139 (A8K2U1_HUMAN)
  • Uncharacterized glycosyltransferase AER61 (AER61_HUMAN)
  • cDNA FLJ61055, highly similar to Rattus norvegicus glycosyltransferase Aer61 (Aer61), mRNA (B4E243_HUMAN)
  • C3orf64 protein (Q8N329_HUMAN)

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 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-seryl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = 3-O-(N-acetyl-beta-D-glucosaminyl)-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:48904, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:12251, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:57705, ChEBI:CHEBI:58223, ChEBI:CHEBI:90838; EC=2.4.1.255; Evidence={ECO:0000250|UniProtKB:Q8BYW9};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-threonyl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = 3-O-(N-acetyl-beta-D-glucosaminyl)-L-threonyl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:48908, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:12252, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:57705, ChEBI:CHEBI:58223, ChEBI:CHEBI:90840; EC=2.4.1.255; Evidence={ECO:0000250|UniProtKB:Q8BYW9};.

Enzyme Numbers (IUBMB) for EOGT Gene

Phenotypes From GWAS Catalog 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,IBA 21873635
GO:0097363 protein O-GlcNAc transferase activity 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EOGT

No data available for 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
cytoskeleton 1
mitochondrion 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:0005783 endoplasmic reticulum IEA --
GO:0005788 endoplasmic reticulum lumen IEA,IBA 21873635
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

PathCards logo

SuperPathways 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

Gene Ontology (GO) - Biological Process for EOGT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006493 protein O-linked glycosylation ISS --
GO:0097370 protein O-GlcNAcylation via threonine IBA 21873635
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
  • (2R,3R,4R,5S,6R)-3-(acetylamino)-4,5-Dihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl [(2R,3S,4R,5R)-5-(2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-3,4-dihydroxytetrahydrofuran-2-yl]methyl dihydrogen diphosphate (non-preferred name)
  • UDP-GlcNAc
  • UDP-N-Acetyl-D-glucosamine
  • UDP-N-Acetylglucosamine
  • URIDINE-diphosphATE-N-acetylglucosamine
528-04-1
genes like me logo Genes that share compounds with EOGT: view

Transcripts for EOGT Gene

mRNA/cDNA for EOGT Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EOGT

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

Expression for EOGT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EOGT

SOURCE GeneReport for Unigene cluster for EOGT Gene:

Hs.518059

Evidence on tissue expression from TISSUES for EOGT Gene

  • Nervous system(4.4)
  • Heart(2.1)

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 30 31
  • 99.75 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EOGT 30 31
  • 89.86 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EOGT 30 31
  • 87.67 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Eogt 30 17 31
  • 84.82 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Eogt 30
  • 84.5 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia EOGT 31
  • 68 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EOGT 31
  • 54 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C3ORF64 30 31
  • 74.58 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EOGT 31
  • 50 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia eogt 30
  • 67.63 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7160 30
Zebrafish
(Danio rerio)
Actinopterygii LOC798087 30
  • 64.74 (n)
eogt 31
  • 53 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009279 30
  • 54.84 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Eogt 30 31
  • 53.32 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea CELE_H12D21.10 30
  • 51.99 (n)
H12D21.10 31
  • 32 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 34 (a)
OneToMany
-- 31
  • 33 (a)
OneToMany
Species where no ortholog for EOGT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for EOGT: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EOGT Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
639398 Uncertain Significance: Adams-Oliver syndrome 4 69,009,671(-) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
683791 Benign: not provided 69,009,632(-) C/T INTRON_VARIANT
683801 Benign: not provided 69,005,190(-) T/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
712959 Likely Benign: not provided 69,004,491(-) T/C INTRON_VARIANT
732068 Benign: Adams-Oliver syndrome 4 68,979,697(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for EOGT Gene

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: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
adams-oliver syndrome 4
  • aos4
adams-oliver syndrome
  • aos
oliver syndrome
  • postaxial polydactyly and mental retardation
dowling-degos disease
  • ddd
lateral meningocele syndrome
  • lmns
- 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.
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
  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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis. (PMID: 31536960) Moutaoufik MT … Babu M (iScience 2019) 3

Products for EOGT Gene

  • Biorbyt antibodies for EOGT

Sources for EOGT Gene