EOGT - EGF domain specific O-linked N-acetylglucosamine transferase Gene

Homo sapiens

Also known as AOS4; AER61; EOGT1; C3orf64

Gene ID: 285203 | Gene type: protein coding

About EOGT

Cytogenetic location: 3p14.1 Genomic coordinates (GRCh38): 3:68,975,225-69,013,684 (from NCBI)

This gene has 10 transcripts (splice variants), 210 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in lung (RPKM 8.1), prostate (RPKM 7.4) and 25 other tissues.

Summary

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]

EOGT Products(2)

mRNA	Protein	Name
NM_001278689.2	NP_001265618.1	EGF domain-specific O-linked N-acetylglucosamine transferase isoform a precursor
NM_173654.3	NP_775925.1	EGF domain-specific O-linked N-acetylglucosamine transferase isoform b precursor

EOGT Protein Structure

DUF563

0
100
200
300
400
527 a.a.

Protein Preferred Names

Protein Names

EGF domain-specific O-linked N-acetylglucosamine transferase

AER61 glycosyltransferase

Related Diseases

Diseases

Alias

Adams-Oliver Syndrome 4

AOS4	Adams-Oliver Syndrome, Type 4

Adams-Oliver Syndrome

Adams Oliver Syndrome	Aos
Congenital Scalp Defects With Distal Limb Reduction Anomalies	Aplasia Cutis Congenita With Terminal Transverse Limb Defects
Congenital Scalp Defects With Distal Limb Anomalies	Limb, Scalp And Skull Defects
Limb Scalp And Skull Defects	Absence Defect Of Limbs, Scalp, And Skull

Oliver Syndrome

Postaxial Polydactyly-Intellectual Disability Syndrome

Postaxial Polydactyly And Mental Retardation

Spondylocostal Dysostosis 3, Autosomal Recessive

SCDO3	Spondylocostal Dysostosis, Autosomal Recessive 3
Spondylocostal Dysostosis 3	Autosomal Recessive Spondylocostal Dysostosis 3
Doid:0112361	Dysostosis, Spondylocostal, Autosomal Recessive, Type 3
Jarcho-Levin Syndrome

Nemaline Myopathy 10

NEM10

Myopathy, Nemaline, Type 10

Aplasia Cutis Congenita

Aplasia Cutis Congenita Of Limbs Recessive	Congenital Absence Of Skin On The Upper Or Lower Limbs
Recessive Aplasia Cutis Congenita Of The Limbs	Aplasia Cutis Congenita Nonsyndromic
Congenital Defect Of Skull And Scalp	Scalp Defect Congenital

Lateral Meningocele Syndrome

Lehman Syndrome	Lms
LMNS	Meningocele, Lateral Syndrome

Dowling-Degos Disease

Reticular Pigment Anomaly Of Flexures	Dark Dot Disease
Reticulate Acropigmentation Of Kitamura	Dowling-Degos Kitamura Disease
Kitamura Reticulate Acropigmentation	Ddd
Dowling-Degos-Kitamura Disease	Reticular Pigmented Anomaly Of Flexures

Bilateral Generalized Polymicrogyria

Bilateral Generalised Polymicrogyria

Spondylocostal Dysostosis

Jarcho-Levin Syndrome	Costovertebral Dysplasia
Spondylothoracic Dysostosis	Spondylothoracic Dysplasia
Scdo	Dysostosis, Spondylocostal

Chromosome 22q11.2 Duplication Syndrome

Chromosome 22q11.2 Microduplication Syndrome	22q11.2 Microduplication Syndrome
22q11.2 Duplication Syndrome	Duplication 22q11.2
Trisomy 22q11.2	22q11.2 Duplication
Dup(22)(Q11)

Galloway-Mowat Syndrome

Galloway Mowat Syndrome	Galloway Syndrome
Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type	Microcephaly Nephrosis Syndrome
Microcephaly, Hiatal Hernia, And Nephrotic Syndrome	Nephrosis Neuronal Dysmigration Syndrome
Microcephaly-Hiatus Hernia-Nephrotic Syndrome	Nephrosis-Neuronal Dysmigration Syndrome

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome	Autosomal Dominant Opitz G/Bbb Syndrome
Catch22	Cayler Cardiofacial Syndrome
Conotruncal Anomaly Face Syndrome	Digeorge Syndrome
Sedlackova Syndrome	Shprintzen Syndrome
Velocardiofacial Syndrome	22q11.2 Distal Deletion Syndrome
Distal 22q11.2 Microdeletion Syndrome	22q11.2ds
Vcfs	Velo-Cardio-Facial Syndrome
Distal Chromosome 22q11.2 Deletion Syndrome	Chromosome 22q11.2 Deletion Syndrome Distal
Chromosome 22q11.2 Deletion Syndrome	Deletion 22q11.2 Syndrome
22q11ds	Catch 22
Digeorge Sequence	Microdeletion 22q11.2
Monosomy 22q11	Takao Syndrome
Distal Del(22)(Q11.2)	Distal Monosomy 22q11.2
Catch 22 Syndrome	Chromosome Deletion Syndrome 22q11.2, Distal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04403	EOGT Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	EOGT	VGNC	VGNC:28515
Rattus norvegicus	EOGT	RGD	RGD:1359357
Macaca mulatta	EOGT	VGNC	VGNC:72131
Mus musculus	EOGT	MGD	MGI:2141669
Felis catus	EOGT	VGNC	VGNC:61887
Canis familiaris	EOGT	VGNC	VGNC:40388