GALNT3 (polypeptide N-acetylgalactosaminyltransferase 3)

2007-02-01  

Identity

HGNC
GALNT3
LOCATION
2q24.3
LOCUSID
2591
ALIAS
GalNAc-T3,HFTC,HFTC1,HHS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2591
MIM: 601756
HGNC: 4125
Ensembl: ENSG00000115339

Variants:

dbSNP: 2591
ClinVar: 2591
TCGA: ENSG00000115339
COSMIC: GALNT3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115339ENST00000392701Q14435
ENSG00000115339ENST00000409882E7EUL0
ENSG00000115339ENST00000412248C9J2C3
ENSG00000115339ENST00000414977C9JXX2
ENSG00000115339ENST00000422973C9JW45
ENSG00000115339ENST00000431484C9J388
ENSG00000115339ENST00000437849H7BZS4
ENSG00000115339ENST00000447156C9JY57

Expression (GTEx)

0
5
10
15
20
25
30
35
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
Signal TransductionREACTOMER-HSA-162582
Signaling by FGFRREACTOMER-HSA-190236
Signaling by FGFR3REACTOMER-HSA-5654741
FGFR3 ligand binding and activationREACTOMER-HSA-190239
FGFR3c ligand binding and activationREACTOMER-HSA-190372

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
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
151335112004Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.149
166387432006Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation.149
215330222011Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.101
216252202011Overexpression of GalNAc-transferase GalNAc-T3 promotes pancreatic cancer cell growth.37
203585992010Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.31
245042192014Role of the polypeptide N-acetylgalactosaminyltransferase 3 in ovarian cancer progression: possible implications in abnormal mucin O-glycosylation.29
169404452006Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene.24
147351902004Low expression of polypeptide GalNAc N-acetylgalactosaminyl transferase-3 in lung adenocarcinoma: impact on poor prognosis and early recurrence.20
178534622007Two novel GALNT3 mutations in familial tumoral calcinosis.18
145558402004Expression of uridine diphosphate N-acetyl-alpha-D-galactosamine: polypeptide N-acetylgalactosaminyl transferase 3 in adenocarcinoma of the pancreas.17

Citation

Dessen P

GALNT3 (polypeptide N-acetylgalactosaminyltransferase 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46353/galnt3