Aliases for EOGT Gene
Aliases for EOGT Gene
External Ids for EOGT Gene
- HGNC: 28526
- Entrez Gene: 285203
- Ensembl: ENSG00000163378
- OMIM: 614789
- UniProtKB: Q5NDL2
Previous HGNC Symbols for EOGT Gene
- C3orf64
Previous GeneCards Identifiers for EOGT Gene
- GC03M069025
Summaries 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
- Monarch Initiative
- Search for EOGT at DataMed
- Search for EOGT at HumanCyc
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
Regulatory Element Products
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:
-
- 3p14.1 by Ensembl
- 3p14.1 by Entrez Gene
- 3p14.1 by HGNC
EOGT Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for EOGT Gene
Post-translational modifications for EOGT Gene
Other Protein References for EOGT Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for EOGT
- Novus Biologicals Antibodies for EOGT
-
Abcam antibodies for EOGT
- Invitrogen Antibodies for EOGT
- GeneTex EOGT antibody for EOGT
Protein Products
-
OriGene Purified Proteins for EOGT
- Search Origene for MassSpec and Protein Over-expression Lysates for EOGT
- Origene Custom Protein Services for EOGT
- antibodies-online: Search results for 4 available C3orf64 Proteins ranked by validation data
- Compare Top C3orf64 Proteins
-
Quality Products:
- Search GeneTex for Proteins for EOGT
-
Abcam proteins for EOGT
Assay Products
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:
Suggested Antigen Peptide Sequences for EOGT Gene
Graphical View of Domain Structure for InterPro Entry
Q5NDL2- Family:
-
- Belongs to the glycosyltransferase 61 family.
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
| 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 | -- |
Phenotypes for EOGT Gene
- MGI mutant phenotypes for EOGT:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for EOGT:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for EOGT
-
-
ViGene Biosciences lentiviral particle packaged cDNA for EOGT gene
-
ViGene Biosciences ready-to-package AAV shRNAs for EOGT gene
- Search ViGene Biosciences for EOGT
CRISPR Products
-
OriGene CRISPR knockouts for EOGT
- genomics-online: gRNA clones - Search results for available C3orf64 gene related products
- Applied Biological Materials CRISPR for EOGT
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for EOGT
- GenScript: Design CRISPR guide RNA sequences for EOGT
miRNA for EOGT Gene
- miRTarBase miRNAs that target EOGT
-
- hsa-mir-155-5p (MIRT020654)
- hsa-mir-9-5p (MIRT021350)
- hsa-mir-132-3p (MIRT021748)
- hsa-mir-124-3p (MIRT022493)
- hsa-mir-192-5p (MIRT026413)
- hsa-mir-30e-3p (MIRT477339)
- hsa-mir-30d-3p (MIRT477340)
- hsa-mir-30a-3p (MIRT477341)
- hsa-mir-599 (MIRT477342)
- hsa-mir-548aw (MIRT477343)
- hsa-mir-4276 (MIRT477344)
- hsa-mir-3161 (MIRT477345)
- hsa-mir-137 (MIRT477346)
- hsa-mir-4766-3p (MIRT477347)
- hsa-mir-1468-3p (MIRT477348)
- hsa-mir-548x-5p (MIRT477349)
- hsa-mir-548g-5p (MIRT477350)
- hsa-mir-548f-5p (MIRT477351)
- hsa-mir-548aj-5p (MIRT477352)
- hsa-mir-642b-3p (MIRT477353)
- hsa-mir-642a-3p (MIRT477354)
- hsa-mir-3908 (MIRT477355)
- hsa-mir-425-5p (MIRT477356)
- hsa-mir-4703-5p (MIRT477357)
- hsa-mir-3942-5p (MIRT477358)
- hsa-mir-944 (MIRT477359)
- hsa-mir-3121-3p (MIRT477360)
- hsa-mir-152-3p (MIRT477361)
- hsa-mir-148b-3p (MIRT477362)
- hsa-mir-148a-3p (MIRT477363)
- hsa-mir-3666 (MIRT477364)
- hsa-mir-454-3p (MIRT477365)
- hsa-mir-301a-3p (MIRT477366)
- hsa-mir-130b-3p (MIRT477367)
- hsa-mir-130a-3p (MIRT477368)
- hsa-mir-4295 (MIRT477369)
- hsa-mir-301b-3p (MIRT477370)
- hsa-mir-19b-3p (MIRT477371)
- hsa-mir-19a-3p (MIRT477372)
- hsa-mir-5007-3p (MIRT703945)
- hsa-mir-4261 (MIRT703946)
- hsa-mir-205-3p (MIRT703947)
- hsa-mir-3688-3p (MIRT703948)
- hsa-mir-5011-5p (MIRT703949)
- hsa-mir-410-3p (MIRT703950)
- hsa-mir-6512-5p (MIRT703951)
- hsa-mir-4694-3p (MIRT703952)
- hsa-mir-19a-5p (MIRT784085)
- hsa-mir-19b-1-5p (MIRT784098)
- hsa-mir-19b-2-5p (MIRT784111)
- hsa-mir-2052 (MIRT784145)
- hsa-mir-223-5p (MIRT784264)
- hsa-mir-297 (MIRT784380)
- hsa-mir-3680-3p (MIRT785214)
- hsa-mir-4307 (MIRT785672)
- hsa-mir-450b-5p (MIRT786056)
- hsa-mir-4520-5p (MIRT786093)
- hsa-mir-4666b (MIRT786353)
- hsa-mir-5011-3p (MIRT787006)
- hsa-mir-507 (MIRT787038)
- hsa-mir-557 (MIRT787647)
- hsa-mir-567 (MIRT787716)
- hsa-mir-574-5p (MIRT787854)
- hsa-mir-6867-5p (MIRT789193)
miRNA Products
- Search ViGene Biosciences for EOGT
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for EOGT
- Browse OriGene Inhibitory RNA Products For EOGT
- genomics-online: shRNA clones - Search results for available C3orf64 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for EOGT gene
Clone Products
- Sino Biological Human cDNA Clone for EOGT
- VectorBuilder custom plasmid, inducible vectors for EOGT
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for EOGT
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available C3orf64 gene related products
- orf clones - Search results for available C3orf64 gene related products
- Applied Biological Materials Clones for EOGT
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for EOGT
-
ViGene Biosciences adenoviral particle packaged cDNA for EOGT gene
-
ViGene Biosciences lentiviral particle packaged cDNA for EOGT gene
-
ViGene Biosciences ready-to-package AAV shRNAs for EOGT gene
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.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 4 |
| extracellular | 2 |
| nucleus | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| golgi apparatus | 1 |
- Cytosol (2)
- Nuclear membrane (2)
- Nucleoplasm (2)
| 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 | -- |
Pathways & Interactions for EOGT Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Other types of O-glycan biosynthesis | ||
Pathways by source for EOGT Gene
1 KEGG pathway for EOGT Gene
Interacting Proteins for EOGT Gene
Selected Interacting proteins:
Q5NDL2-EOGT_HUMAN
ENSP00000295571
for EOGT Gene via
IID
STRING
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006493 | protein O-linked glycosylation | ISS | -- |
| GO:0008152 | metabolic process | IEA | -- |
No data available for SIGNOR curated interactions for EOGT Gene
Drugs & Compounds for EOGT Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Uridine-5'-Diphosphate | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Uridine diphosphate-N-acetylglucosamine |
|
528-04-1 |
|
Transcripts for EOGT Gene
mRNA/cDNA for EOGT Gene
- (13) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (73) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for EOGT Gene
CRISPR Products
-
OriGene CRISPR knockouts for EOGT
- genomics-online: gRNA clones - Search results for available C3orf64 gene related products
- Applied Biological Materials CRISPR for EOGT
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for EOGT
- GenScript: Design CRISPR guide RNA sequences for EOGT
miRNA Products
- Search ViGene Biosciences for EOGT
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for EOGT
- Browse OriGene Inhibitory RNA Products For EOGT
- genomics-online: shRNA clones - Search results for available C3orf64 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for EOGT gene
Clone Products
- Sino Biological Human cDNA Clone for EOGT
- VectorBuilder custom plasmid, inducible vectors for EOGT
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for EOGT
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available C3orf64 gene related products
- orf clones - Search results for available C3orf64 gene related products
- Applied Biological Materials Clones for EOGT
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression for EOGT Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
- Brain (Nervous System)
-
Limb (Muscoskeletal System)
- Apical Ectodermal Ridge Cells Limb Ectoderm
-
Ectoderm (Gastrulation Derivatives)
- Apical Ectodermal Ridge Cells Limb Ectoderm
- Heart (Cardiovascular System)
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
NURSA nuclear receptor signaling pathways regulating expression of EOGT Gene:
EOGTSOURCE GeneReport for Unigene cluster for EOGT Gene:
Hs.518059Evidence 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
Primer Products
-
OriGene qPCR primer pairs for EOGT
-
OriGene qPCR primer pairs and template standards for EOGT
- genomics-online: primer clones - Search results for available C3orf64 gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | EOGT 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | EOGT 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | EOGT 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Eogt 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Eogt 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | EOGT 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | EOGT 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | C3ORF64 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | EOGT 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | eogt 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.7160 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC798087 33 |
|
||
| eogt 34 |
|
OneToOne | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009279 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Eogt 33 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | CELE_H12D21.10 33 |
|
||
| H12D21.10 34 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany | |
| -- 34 |
|
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)
Paralogs for EOGT Gene
Variants 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 |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2725383 | CNV | deletion | 23290073 |
| esv3369576 | CNV | duplication | 20981092 |
| nsv237873 | CNV | deletion | 16902084 |
| nsv478083 | CNV | novel sequence insertion | 20440878 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EOGT Gene
Disorders for EOGT Gene
(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 |
|
|
| adams-oliver syndrome |
|
|
| oliver syndrome |
|
|
| aplasia cutis congenita |
|
|
| esophageal varix |
|
|
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
No data available for Genatlas for EOGT Gene
Publications for EOGT Gene
- 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
- 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
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
- 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
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Sources for EOGT Gene
- (1) GeneCards
- (2) HGNC
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