GALNT7
polypeptide N-acetylgalactosaminyltransferase 7
Summary
This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene controls the initiation step of mucin-type O-linked protein glycosylation and transfer of N-acetylgalactosamine to serine and threonine amino acid residues. This enzyme is a type II transmembrane protein and shares common sequence motifs with other family members. Unlike other family members, this enzyme shows exclusive specificity for partially GalNAc-glycosylated acceptor substrates and shows no activity with non-glycosylated peptides. This protein may function as a follow-up enzyme in the initiation step of O-glycosylation. [provided by RefSeq, Jul 2008]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs13116270 | 4:174,132,985 | T/C | — | — |
| rs13125240 | 4:174,151,619 | T/G | — | — |
| rs750313612 | 4:174,169,237 | T/C | — | uncertain significance |
| rs2532411828 | 4:174,169,246 | A/G | — | uncertain significance |
| rs1311291484 | 4:174,169,281 | A/T | — | uncertain significance |
| rs377262941 | 4:174,169,296 | C/T | — | uncertain significance |
| rs1219557689 | 4:174,169,401 | G/A | — | uncertain significance |
| rs79967711 | 4:174,169,569 | G/A | — | uncertain significance |
| rs758706962 | 4:174,169,584 | C/G | — | uncertain significance |
| rs1303578524 | 4:174,169,589 | A/C | — | uncertain significance |
| rs146899388 | 4:174,213,302 | G/A | — | uncertain significance |
| rs1311616681 | 4:174,213,374 | C/G | — | uncertain significance |
| rs746665939 | 4:174,216,554 | A/T | — | uncertain significance |
| rs2532563959 | 4:174,216,588 | A/C | — | uncertain significance |
| rs753569723 | 4:174,219,289 | T/C | — | uncertain significance |
| rs2532575355 | 4:174,219,438 | G/C | — | uncertain significance |
| rs35177744 | 4:174,223,282 | T/C | — | benign |
| rs150013223 | 4:174,235,170 | G/A | — | uncertain significance |
| rs61741158 | 4:174,235,180 | G/T | — | benign |
| rs1424029560 | 4:174,235,190 | C/A | — | uncertain significance |
| rs774669298 | 4:174,235,206 | C/T | — | uncertain significance |
| rs764451249 | 4:174,235,224 | G/A | — | uncertain significance |
| rs144873913 | 4:174,235,304 | C/A | missense variant | — |
| rs181792131 | 4:174,238,804 | C/G | — | uncertain significance |
| rs1400987211 | 4:174,239,673 | G/T | — | uncertain significance |
| rs755005166 | 4:174,242,828 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.