GALNT13 (polypeptide N-acetylgalactosaminyltransferase 13)

2016-10-01  

Identity

HGNC
LOCATION
2q23.3
LOCUSID
ALIAS
GalNAc-T13
FUSION GENES

Other Information

Locus ID:

NCBI: 114805
MIM: 608369
HGNC: 23242
Ensembl: ENSG00000144278

Variants:

dbSNP: 114805
ClinVar: 114805
TCGA: ENSG00000144278
COSMIC: GALNT13

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144278ENST00000392825Q8IUC8
ENSG00000144278ENST00000409237Q8IUC8
ENSG00000144278ENST00000422126H7BZU4
ENSG00000144278ENST00000431076H7BZG2
ENSG00000144278ENST00000434213C9JLI4
ENSG00000144278ENST00000450838H7C2I5
ENSG00000144278ENST00000453715H7C0T6

Expression (GTEx)

0
5
10
15
20
25
30
35
40

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

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
124071142003Cloning and characterization of a new human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase, designated pp-GalNAc-T13, that is specifically expressed in neurons and synthesizes GalNAc alpha-serine/threonine antigen.34
226790082012A novel molecular signature for elevated tricuspid regurgitation velocity in sickle cell disease.23
265897992016MicroRNA-424 Predicts a Role for β-1,4 Branched Glycosylation in Cell Cycle Progression.10
240383922014Clinically significant missense variants in human GALNT3, GALNT8, GALNT12, and GALNT13 genes: intriguing in silico findings.7
186493582008Replication of a genome-wide case-control study of esophageal squamous cell carcinoma.6
274990362016Increased expression levels of ppGalNAc-T13 in lung cancers: Significance in the prognostic diagnosis.4
279135702017Revisiting the human polypeptide GalNAc-T1 and T13 paralogs.2

Citation

Dessen P

GALNT13 (polypeptide N-acetylgalactosaminyltransferase 13)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56036/galnt13