Polypeptide N-acetylgalactosaminyltransferase 2 (GALNT2) Associated conditions: 1. Congenital disorder of glycosylation
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001291866.2 | NP_001278795.1 | NC_000001.11 | (230057788..230282121) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_004481.5 | NP_004472.1 | NC_000001.11 | (230057788..230282121) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | NR_120373.2 | - | NC_000001.11 | (230057788..230282121) | Reference GRCh38.p14 Primary Assembly | - |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Polypeptide N-acetylgalactosaminyltransferase 2 (GALNT2) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Polypeptide N-acetylgalactosaminyltransferase 2 (GALNT2)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | NAS | located_in | Golgi membrane | Component | 9852147 |
| 2 | Homo sapiens | TAS | located_in | Golgi membrane | Component | - |
| 3 | Homo sapiens | IDA | involved_in | positive regulation of immunoglobulin production | Process | 12438318 |
| 4 | Homo sapiens | IBA | enables | polypeptide N-acetylgalactosaminyltransferase activity | Function | - |
| 5 | Homo sapiens | IDA | enables | polypeptide N-acetylgalactosaminyltransferase activity | Function | 9295285 12438318 16434399 16638743 18562306 19460755 |
| 6 | Homo sapiens | IEA | enables | polypeptide N-acetylgalactosaminyltransferase activity | Function | - |
| 7 | Homo sapiens | TAS | enables | polypeptide N-acetylgalactosaminyltransferase activity | Function | - |
| 8 | Homo sapiens | IPI | enables | protein binding | Function | 21699783 25416956 32296183 |
| 9 | Homo sapiens | IEA | located_in | extracellular region | Component | - |
| 10 | Homo sapiens | TAS | located_in | endoplasmic reticulum membrane | Component | - |
| 11 | Homo sapiens | IBA | is_active_in | Golgi apparatus | Component | - |
| 12 | Homo sapiens | IDA | colocalizes_with | Golgi apparatus | Component | 12506059 |
| 13 | Homo sapiens | IDA | located_in | Golgi apparatus | Component | 9852147 |
| 14 | Homo sapiens | IEA | located_in | Golgi apparatus | Component | - |
| 15 | Homo sapiens | IDA | located_in | Golgi stack | Component | 9852147 |
| 16 | Homo sapiens | IBA | involved_in | protein O-linked glycosylation | Process | - |
| 17 | Homo sapiens | IDA | involved_in | protein O-linked glycosylation | Process | 12438318 16434399 19460755 |
| 18 | Homo sapiens | HDA | located_in | membrane | Component | 19946888 |
| 19 | Homo sapiens | IDA | involved_in | protein O-linked glycosylation via N-acetyl-galactosamine | Process | 9295285 18562306 |
| 20 | Homo sapiens | TAS | involved_in | protein O-linked glycosylation via N-acetyl-galactosamine | Process | - |
| 21 | Homo sapiens | IEA | enables | transferase activity | Function | - |
| 22 | Homo sapiens | IEA | enables | glycosyltransferase activity | Function | - |
| 23 | Homo sapiens | IDA | enables | manganese ion binding | Function | 9295285 16434399 |
| 24 | Homo sapiens | IEA | enables | carbohydrate binding | Function | - |
| 25 | Homo sapiens | IEA | located_in | Golgi cisterna membrane | Component | - |
| 26 | Homo sapiens | IEA | enables | metal ion binding | Function | - |
| 27 | Homo sapiens | IDA | located_in | perinuclear region of cytoplasm | Component | 12506059 |
| 28 | Homo sapiens | IDA | involved_in | protein maturation | Process | 12438318 |