EOGT (EGF domain specific O-linked N-acetylglucosamine transferase)

2014-11-01  

Identity

HGNC
EOGT
LOCATION
3p14.1
LOCUSID
285203
ALIAS
AER61,AOS4,C3orf64,EOGT1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 285203
MIM: 614789
HGNC: 28526
Ensembl: ENSG00000163378

Variants:

dbSNP: 285203
ClinVar: 285203
TCGA: ENSG00000163378
COSMIC: EOGT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163378ENST00000295571Q5NDL2
ENSG00000163378ENST00000383701Q5NDL2
ENSG00000163378ENST00000403140F5H225
ENSG00000163378ENST00000424374C9JQM7
ENSG00000163378ENST00000456376C9J4G5
ENSG00000163378ENST00000540764Q5NDL2
ENSG00000163378ENST00000540955Q5NDL2
ENSG00000163378ENST00000615922Q8N329

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Other types of O-glycan biosynthesisKEGGko00514
Other types of O-glycan biosynthesisKEGGhsa00514

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
283957342017O-GlcNAc on NOTCH1 EGF repeats regulates ligand-induced Notch signaling and vascular development in mammals.18
235227842013Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.0
238600372014Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase.0
284084802017EOGT and O-GlcNAc on secreted and membrane proteins.0
292440712018The Glycosyltransferase EOGT Regulates Adropin Expression in Decidualizing Human Endometrium.0

Citation

Dessen P

EOGT (EGF domain specific O-linked N-acetylglucosamine transferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62850/eogt-(egf-domain-specific-o-linked-n-acetylglucosamine-transferase)