GALNT18 (polypeptide N-acetylgalactosaminyltransferase 18)

2014-11-01  

Identity

HGNC
GALNT18
LOCATION
11p15.4
LOCUSID
374378
ALIAS
GALNACT18,GALNT15,GALNTL4,GalNAc-T15,GalNAc-T18
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 374378
MIM: 615136
HGNC: 30488
Ensembl: ENSG00000110328

Variants:

dbSNP: 374378
ClinVar: 374378
TCGA: ENSG00000110328
COSMIC: GALNT18

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110328ENST00000227756Q6P9A2
ENSG00000110328ENST00000227756Q58A54

Expression (GTEx)

0
10
20
30
40
50
60
70
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
Mucin type O-glycan biosynthesisKEGGko00512
Mucin type O-glycan biosynthesisKEGGhsa00512
Metabolic pathwaysKEGGhsa01100
O-glycan biosynthesis, mucin type coreKEGGhsa_M00056
O-glycan biosynthesis, mucin type coreKEGGM00056
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
O-linked glycosylation of mucinsREACTOMER-HSA-913709

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA165292659tocilizumabChemicalClinicalAnnotationassociatedPD27339827
PA443434Arthritis, RheumatoidDiseaseClinicalAnnotationassociatedPD27339827
PA443512Urinary Bladder NeoplasmsDiseaseClinicalAnnotationassociatedPD27150640
PA449014cisplatinChemicalClinicalAnnotationassociatedPD27150640

References

Pubmed IDYearTitleCitations
339090262021Polypeptide N-acetylgalactosaminyltransferase 18 retains in endoplasmic reticulum depending on its luminal regions interacting with ER resident UGGT1, PLOD3 and LPCAT1.3
339090262021Polypeptide N-acetylgalactosaminyltransferase 18 retains in endoplasmic reticulum depending on its luminal regions interacting with ER resident UGGT1, PLOD3 and LPCAT1.3
200806502010Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.57
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
200806502010Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.57
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.94
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.94

Citation

Dessen P

GALNT18 (polypeptide N-acetylgalactosaminyltransferase 18)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63687/galnt18-(polypeptide-n-acetylgalactosaminyltransferase-18)