Reviewed November 2015
What is the official name of the EOGT gene?
The official name of this gene is “EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase.”
EOGT is the gene's official symbol. The EOGT gene is also known by other names, listed below.
What is the normal function of the EOGT gene?
The EOGT gene provides instructions for making a protein that modifies certain other proteins by transferring a molecule called N-acetylglucosamine to them. This change, called an O-GlcNAc modification, can affect protein stability and regulate several cellular processes, such as signaling in cells and the first step in the production of proteins from genes (transcription). Little is known about the proteins altered by the EOGT protein or what effect the O-GlcNAc modification has on them. Studies suggest that Notch proteins may be modified by EOGT. Notch proteins stimulate signaling pathways important during the development of several tissues throughout the body, including the bones, heart, liver, muscles, and blood cells, among others.
How are changes in the EOGT gene related to health conditions?
- Adams-Oliver syndrome - caused by mutations in the EOGT gene
At least three mutations in the EOGT gene have been found in individuals with Adams-Oliver syndrome. This condition is characterized by areas of missing skin (aplasia cutis congenita), usually on the scalp, and malformations of the hands and feet. The most common EOGT gene mutation involved in this condition, which is found in the Arab population, leads to an abnormally short protein. The other mutations change single protein building blocks (amino acids) in the EOGT protein. Research suggests that the EOGT gene mutations reduce or eliminate the protein's ability to transfer N-acetylglucosamine. It is unknown what effect this impairment has on cells or how it leads to the features of Adams-Oliver syndrome.
Where is the EOGT gene located?
Cytogenetic Location: 3p14.1
Molecular Location on chromosome 3: base pairs 68,975,212 to 69,013,961
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/285203))
The EOGT gene is located on the short (p) arm of chromosome 3 at position 14.1.
More precisely, the EOGT gene is located from base pair 68,975,212 to base pair 69,013,961 on chromosome 3.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about EOGT?
You and your healthcare professional may find the following resources about EOGT helpful.
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for EOGT (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=285203%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28EOGT%5BTIAB%5D%29%20OR%20%28%28C3orf64%5BTIAB%5D%29%20OR%20%28EOGT1%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/614789)
Research Resources - Tools for researchers
- HGNC Gene Family: O-linked N-acetylglucosaminyltransferases (http://www.genenames.org/cgi-bin/genefamilies/set/446)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=28526)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/285203)
What other names do people use for the EOGT gene or gene products?
- AER61 glycosyltransferase
- EGF domain-specific O-linked N-acetylglucosamine transferase
- EGF-O-GlcNAc transferase
- extracellular O-linked N-acetylglucosamine transferase
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding EOGT?
You may find definitions for these and many other terms in the Genetics Home Reference
- Cohen I, Silberstein E, Perez Y, Landau D, Elbedour K, Langer Y, Kadir R, Volodarsky M, Sivan S, Narkis G, Birk OS. Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase. Eur J Hum Genet. 2014 Mar;22(3):374-8. doi: 10.1038/ejhg.2013.159. Epub 2013 Jul 17. (http://www.ncbi.nlm.nih.gov/pubmed/23860037?dopt=Abstract)
- OMIM: EGF DOMAIN-SPECIFIC O-LINKED N-ACETYLGLUCOSAMINE TRANSFERASE (http://omim.org/entry/614789)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/285203)
- Ogawa M, Sawaguchi S, Kawai T, Nadano D, Matsuda T, Yagi H, Kato K, Furukawa K, Okajima T. Impaired O-linked N-acetylglucosaminylation in the endoplasmic reticulum by mutated epidermal growth factor (EGF) domain-specific O-linked N-acetylglucosamine transferase found in Adams-Oliver syndrome. J Biol Chem. 2015 Jan 23;290(4):2137-49. doi: 10.1074/jbc.M114.598821. Epub 2014 Dec 8. (http://www.ncbi.nlm.nih.gov/pubmed/25488668?dopt=Abstract)
- Sakaidani Y, Ichiyanagi N, Saito C, Nomura T, Ito M, Nishio Y, Nadano D, Matsuda T, Furukawa K, Okajima T. O-linked-N-acetylglucosamine modification of mammalian Notch receptors by an atypical O-GlcNAc transferase Eogt1. Biochem Biophys Res Commun. 2012 Mar 2;419(1):14-9. doi: 10.1016/j.bbrc.2012.01.098. Epub 2012 Jan 28. (http://www.ncbi.nlm.nih.gov/pubmed/22310717?dopt=Abstract)
- Sakaidani Y, Nomura T, Matsuura A, Ito M, Suzuki E, Murakami K, Nadano D, Matsuda T, Furukawa K, Okajima T. O-linked-N-acetylglucosamine on extracellular protein domains mediates epithelial cell-matrix interactions. Nat Commun. 2011 Dec 13;2:583. doi: 10.1038/ncomms1591. (http://www.ncbi.nlm.nih.gov/pubmed/22158438?dopt=Abstract)
- Shaheen R, Aglan M, Keppler-Noreuil K, Faqeih E, Ansari S, Horton K, Ashour A, Zaki MS, Al-Zahrani F, Cueto-González AM, Abdel-Salam G, Temtamy S, Alkuraya FS. Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. Am J Hum Genet. 2013 Apr 4;92(4):598-604. doi: 10.1016/j.ajhg.2013.02.012. Epub 2013 Mar 21. (http://www.ncbi.nlm.nih.gov/pubmed/23522784?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.