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
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
200806502010Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.46

Citation

Dessen P

GALNT18 (polypeptide N-acetylgalactosaminyltransferase 18)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63687/galnt18