|
Gene id |
2591 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
GALNT3 Gene UCSC Ensembl |
|
Aliases |
GalNAc-T3, HFTC, HFTC1, HHS |
|
Gene name |
polypeptide N-acetylgalactosaminyltransferase 3 |
|
Alternate names |
polypeptide N-acetylgalactosaminyltransferase 3, GalNAc transferase 3, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3), polypeptide GalNAc transferase 3, |
|
Gene location |
2q24.3 (165796351: 165747587) Exons: 13 NC_000008.11
|
|
Gene summary(Entrez) |
This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Indi
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|
OMIM |
601756 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Pathway id | Pathway name |
|---|
| hsa01100 | Metabolic pathways | | hsa01100 | Metabolic pathways | | hsa00514 | Other types of O-glycan biosynthesis | | hsa00512 | Mucin type O-glycan biosynthesis | |
|
| Associated diseases |
References |
| Diabetes | GAD: 10679951 |
| Oligoasthenoteratozoospermia | MIK: 23052838 |
| Familial tumoral calcinosis | KEGG: H01193 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Oligoasthenoteratozoospermia | MIK: 23052838 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 23052838 |
Oligoasthe
noteratozo
ospermia
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
|