OSGEP (O-sialoglycoprotein endopeptidase)

2014-11-01  

Identity

HGNC
OSGEP
LOCATION
14q11.2
LOCUSID
55644
ALIAS
GAMOS3,GCPL1,KAE1,OSGEP1,PRSMG1,TCS3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55644
MIM: 610107
HGNC: 18028
Ensembl: ENSG00000092094

Variants:

dbSNP: 55644
ClinVar: 55644
TCGA: ENSG00000092094
COSMIC: OSGEP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000092094ENST00000206542Q9NPF4
ENSG00000092094ENST00000553640G3V445
ENSG00000092094ENST00000555223G3V249

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
Gene ExpressionREACTOMER-HSA-74160
tRNA processingREACTOMER-HSA-72306
tRNA modification in the nucleus and cytosolREACTOMER-HSA-6782315

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
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
346141692021The structural and functional workings of KEOPS.17
346660322021Novel variants in OSGEP leading to Galloway-Mowat syndrome by altering its subcellular localization.3
346141692021The structural and functional workings of KEOPS.17
346660322021Novel variants in OSGEP leading to Galloway-Mowat syndrome by altering its subcellular localization.3
309750892019Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature.6
309750892019Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature.6
282725322017tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy.49
282725322017tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy.49
200106992010Haplotype-based case-control study on human apurinic/apyrimidinic endonuclease 1/redox effector factor-1 gene and essential hypertension.7
200106992010Haplotype-based case-control study on human apurinic/apyrimidinic endonuclease 1/redox effector factor-1 gene and essential hypertension.7

Citation

Dessen P

OSGEP (O-sialoglycoprotein endopeptidase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71560/