GALNT13 (polypeptide N-acetylgalactosaminyltransferase 13)

2016-10-01  

Identity

HGNC
GALNT13
LOCATION
2q23.3
LOCUSID
114805
ALIAS
GalNAc-T13
FUSION GENES
Show Gene Fusions

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
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

References

Pubmed IDYearTitleCitations
279135702017Revisiting the human polypeptide GalNAc-T1 and T13 paralogs.11
279135702017Revisiting the human polypeptide GalNAc-T1 and T13 paralogs.11
265897992016MicroRNA-424 Predicts a Role for β-1,4 Branched Glycosylation in Cell Cycle Progression.18
274990362016Increased expression levels of ppGalNAc-T13 in lung cancers: Significance in the prognostic diagnosis.11
265897992016MicroRNA-424 Predicts a Role for β-1,4 Branched Glycosylation in Cell Cycle Progression.18
274990362016Increased expression levels of ppGalNAc-T13 in lung cancers: Significance in the prognostic diagnosis.11
240383922014Clinically significant missense variants in human GALNT3, GALNT8, GALNT12, and GALNT13 genes: intriguing in silico findings.7
240383922014Clinically significant missense variants in human GALNT3, GALNT8, GALNT12, and GALNT13 genes: intriguing in silico findings.7
226790082012A novel molecular signature for elevated tricuspid regurgitation velocity in sickle cell disease.32
226790082012A novel molecular signature for elevated tricuspid regurgitation velocity in sickle cell disease.32
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
186493582008Replication of a genome-wide case-control study of esophageal squamous cell carcinoma.9
186493582008Replication of a genome-wide case-control study of esophageal squamous cell carcinoma.9
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.46

Citation

Dessen P

GALNT13 (polypeptide N-acetylgalactosaminyltransferase 13)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

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