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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
External Ids for EOGT Gene
- HGNC: 28526
- NCBI Entrez Gene: 285203
- Ensembl: ENSG00000163378
- OMIM®: 614789
- UniProtKB/Swiss-Prot: 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 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.
Additional gene information for EOGT Gene
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
- 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
Latest Assembly
- chr3:68,975,217-69,013,961
- (GRCh38/hg38)
- Size:
- 38,745 bases
- Orientation:
- Minus strand
Previous Assembly
- chr3:69,024,376-69,062,835
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 38,460 bases
- Orientation:
- Minus strand
Genomic View for EOGT Gene
Genes around EOGT on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3p14.1 by HGNC
- 3p14.1 by Entrez Gene
- 3p14.1 by Ensembl
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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAG57436.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for EOGT Gene
Post-translational modifications for EOGT Gene
Other Protein References for EOGT Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for EOGT
- Novus Biologicals Antibodies for EOGT
-
Abcam antibodies for EOGT
- Invitrogen Antibodies for EOGT (AFLGC-Eogt)
-
Biorbyt antibodies for EOGT
-
Custom Antibody ServicesProSci Antibodies for EOGT
- Sino Biological Antibodies for EOGT
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for EOGT
- Origene Custom Protein Services for EOGT
- antibodies-online: Show 5 available C3orf64 Proteins ranked by validation data
- Compare Top C3orf64 Proteins
-
Quality Products:
-
Abcam proteins for EOGT
Assay products for research
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:
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- Family:
-
- Belongs to the glycosyltransferase 61 family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | -- |
| GO:0016262 | protein N-acetylglucosaminyltransferase activity | IBA,ISS | -- |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0016757 | transferase activity, transferring glycosyl groups | IBA | 21873635 |
| GO:0097363 | protein O-GlcNAc transferase activity | IEA | -- |
Phenotypes for EOGT Gene
- MGI mutant phenotypes for EOGT:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for EOGT:
-
- Increased vaccinia virus (VACV) infection
- Increased G1 DNA content
- no effect
- Decreased viability
- Decreased vaccinia virus (VACV) infection
- Increased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Increased gamma-H2AX phosphorylation
- G0/1 arrest
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for EOGT - Starting at $85 >
- * EOGT CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for EOGT
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EOGT
-
Santa Cruz Biotechnology (SCBT) CRISPR for EOGT
miRNA for EOGT Gene
- miRTarBase miRNAs that target EOGT
-
- mmu-miR-301b-3p (MIRT007886)
- mmu-miR-340-5p (MIRT010379)
- mmu-miR-19b-3p (MIRT012386)
- 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)
- mmu-miR-3102-5p (MIRT591988)
- mmu-miR-466l-5p (MIRT591989)
- mmu-miR-466d-5p (MIRT591990)
- mmu-miR-466i-5p (MIRT591991)
- mmu-miR-466k (MIRT591992)
- mmu-miR-466f-5p (MIRT592862)
- mmu-miR-466f (MIRT592863)
- 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 for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EOGT
- Browse OriGene Inhibitory RNA Products For EOGT
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EOGT
Clone products for research
- Applied Biological Materials (abm): Clones for EOGT - Starting at $45 >
- * EOGT as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for EOGT
- Addgene plasmids for EOGT
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EOGT
Cell Lines for research
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 4 |
| extracellular | 2 |
| nucleus | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| golgi apparatus | 1 |
- Cytosol (2)
- Nuclear membrane (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005788 | endoplasmic reticulum lumen | IBA | 21873635 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for EOGT Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Mucin type 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
ENSP00000373206
for EOGT Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for EOGT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006493 | protein O-linked glycosylation | ISS | -- |
| GO:0018215 | protein phosphopantetheinylation | IEA | -- |
| GO:0097370 | protein O-GlcNAcylation via threonine | IBA | 21873635 |
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
- 2 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000295571 4138 nts (view in UCSC)
- ENST00000383701 4443 nts (view in UCSC)
- ENST00000403140 2243 nts (view in UCSC)
- ENST00000424374 924 nts (view in UCSC)
- ENST00000456376 736 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for EOGT - Starting at $85 >
- * EOGT CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for EOGT
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EOGT
-
Santa Cruz Biotechnology (SCBT) CRISPR for EOGT
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EOGT
- Browse OriGene Inhibitory RNA Products For EOGT
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EOGT
Clone products for research
- Applied Biological Materials (abm): Clones for EOGT - Starting at $45 >
- * EOGT as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for EOGT
- Addgene plasmids for EOGT
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EOGT
| 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 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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EOGT
SOURCE GeneReport for Unigene cluster for EOGT Gene:
Hs.518059Evidence on tissue expression from TISSUES for EOGT Gene
- Nervous system(4.4)
- Heart(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 for research
-
OriGene qPCR primer pairs for EOGT
-
OriGene qPCR primer pairs and template standards for EOGT
Gene Expression Assays for research
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 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | EOGT 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | EOGT 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Eogt 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Eogt 29 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | EOGT 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | EOGT 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | C3ORF64 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | EOGT 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | eogt 29 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.7160 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC798087 29 |
|
||
| eogt 30 |
|
OneToOne | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009279 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Eogt 29 30 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | CELE_H12D21.10 29 |
|
||
| H12D21.10 30 |
|
OneToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToMany | |
| -- 30 |
|
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
- Alliance of Genome Resources:
- Additional Orthologs for EOGT
Paralogs for EOGT Gene
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 |
|---|---|---|---|---|---|
| 1010701 | Uncertain Significance: Adams-Oliver syndrome 4 | 68,987,483(-) |
G/A NM_001278689.2(EOGT):c.1114C>T (p.Arg372Trp) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| 1021870 | Uncertain Significance: Adams-Oliver syndrome 4 | 68,982,875(-) |
G/A NM_001278689.2(EOGT):c.1153-3C>T |
INTRON | |
| 1027868 | Pathogenic: Adams-Oliver syndrome 4 | 69,009,636(-) |
C/T NM_001278689.2(EOGT):c.210+1G>A |
SPLICE_DONOR | |
| 1035062 | Uncertain Significance: Adams-Oliver syndrome 4 | 69,008,431(-) |
C/A NM_001278689.2(EOGT):c.308G>T (p.Gly103Val) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| 785635 | Benign: not provided | 69,004,435(-) |
TT/AA NM_001278689.2(EOGT):c.562_563inv (p.Lys188Leu) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EOGT Gene
Disorders for EOGT Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| adams-oliver syndrome 4 |
|
|
| adams-oliver syndrome |
|
|
| oliver syndrome |
|
|
| adams-oliver syndrome 1 |
|
|
| dowling-degos disease |
|
|
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 variants affecting the gene represented in this entry.
Additional Disease Information for EOGT
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
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 72
- Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase. (PMID: 23860037) Cohen I … Birk OS (European journal of human genetics : EJHG 2014) 3 72
- 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
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
- A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
ExternalLinks
Products for EOGT Gene
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- antibodies-online: Show 3 available C3orf64 Antibodies ranked by validation data
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- Biorbyt antibodies for EOGT
Sources for EOGT Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
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