GALNT12 Gene: Polypeptide N-Acetylgalactosaminyltransferase 12
Genetic insights into GALNT12: function, disease associations, expression, and mutations
Gene Information Card
| Symbol | GALNT12 |
|---|---|
| Full Name | Polypeptide N-acetylgalactosaminyltransferase 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q22.33 |
| NCBI Gene ID | 79695 ncbi.nlm.nih.gov/gene/79695 |
| Ensembl ID | ENSG00000157613 |
| UniProt ID | Q8IXK2 |
| OMIM ID | 610290 |
| HGNC ID | 19860 |
| Aliases | GalNAc-T12, ppGalNAc-T12, FLJ22175 |
Description
GALNT12 encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family. This enzyme initiates mucin-type O-linked glycosylation by transferring N-acetylgalactosamine (GalNAc) to serine or threonine residues on target proteins. GALNT12 is specifically expressed in the gastrointestinal tract and is implicated in colorectal cancer susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Loss-of-function mutations reduce O-glycosylation capacity, potentially altering cell surface glycoproteins and promoting tumorigenesis. | Multiple studies report germline mutations in GALNT12 associated with colorectal cancer risk (e.g., Gubbels et al., 2014; Clarke et al., 2012). |
| Inflammatory bowel disease (IBD) | Altered O-glycosylation may affect mucosal barrier integrity, contributing to chronic inflammation. | Association observed in some cohorts, but evidence is preliminary (e.g., Ghazi et al., 2016). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | High | High expression in normal colon tissue. |
| Small intestine | High | High expression in small intestine. |
| Stomach | Moderate | Moderate expression in gastric tissue. |
| Liver | Low | Low expression in liver. |
| Kidney | Low | Low expression in kidney. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (colorectal adenocarcinoma) | High | Colorectal cancer cell line with high GALNT12 expression. |
| HCT116 (colorectal carcinoma) | Moderate | Moderate expression; used in functional studies. |
| SW480 (colorectal adenocarcinoma) | Moderate | Moderate expression. |
| HeLa (cervical adenocarcinoma) | Low | Low expression in non-colorectal cell line. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.907G>A (p.Asp303Asn) | Missense | Rare (found in colorectal cancer cases) | Loss of enzymatic activity in vitro. |
| c.1090C>T (p.Arg364Ter) | Nonsense | Rare (found in colorectal cancer cases) | Truncated protein, loss of function. |
| c.155C>T (p.Thr52Met) | Missense | Rare (found in colorectal cancer cases) | Reduced activity. |
| c.532G>A (p.Gly178Arg) | Missense | Rare (found in colorectal cancer cases) | Loss of function. |
Mutation functional classification
Loss of Function (LOF)
Most reported GALNT12 mutations in colorectal cancer are loss-of-function, reducing or abolishing GalNAc-transferase activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for GALNT12.
Dominant Negative (DN)
No evidence for dominant-negative effects; haploinsufficiency is suggested.
View complete mutation data：
Gene Ontology (GO)
| • polypeptide N-acetylgalactosaminyltransferase activity | • manganese ion binding |
| • Golgi apparatus | • protein O-linked glycosylation |
| • carbohydrate metabolic process |
Pathways
• O-linked glycosylation of mucins
• Mucin-type O-glycan biosynthesis
Protein Summary
GALNT12 is a type II transmembrane protein localized to the Golgi apparatus. It catalyzes the initial step of mucin-type O-glycosylation, transferring GalNAc to serine/threonine residues. The protein contains a lectin domain that may modulate substrate specificity. It is highly expressed in the gastrointestinal tract, where it plays a role in maintaining mucosal integrity. Mutations that impair its function are associated with increased colorectal cancer risk.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GALNT12 Knockout HEK293 Cell Line | EDJ-KQ3980 | Human | 79695 | Details Get a Quote |
| GALNT12 Knockout A-549 Cell Line | EDJ-KQ26269 | Human | 79695 | Details Get a Quote |
| GALNT12 Knockout HCT 116 Cell Line | EDJ-KQ26270 | Human | 79695 | Details Get a Quote |
| GALNT12 Knockout HeLa Cell Line | EDJ-KQ26271 | Human | 79695 | Details Get a Quote |
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