GALNT4
polypeptide N-acetylgalactosaminyltransferase 4
Summary
This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. In vitro, the encoded protein can complement other GalNAc-Ts in the complete O-glycosylation of the mucin-1 tandem repeat and can O-glycosylate the P-selectin glycoprotein ligand-1 molecule. The coding region of this gene is contained within a single exon. Fusion transcripts, which combine part of this gene with the 5' exons of the neighboring POC1B (POC1 centriolar protein homolog B) gene, also exist. [provided by RefSeq, Dec 2010]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs71454159 | 12:89,914,883 | A/C | — | — |
| rs2540545316 | 12:89,916,630 | T/C | — | uncertain significance |
| rs1871003974 | 12:89,916,655 | G/A | — | uncertain significance |
| rs182124225 | 12:89,916,657 | C/T | — | uncertain significance |
| rs533855790 | 12:89,916,672 | C/T | — | uncertain significance |
| rs891890145 | 12:89,916,684 | A/G | — | uncertain significance |
| rs200670762 | 12:89,916,895 | G/A | — | uncertain significance |
| rs2540547307 | 12:89,916,978 | C/A | — | uncertain significance |
| rs372140542 | 12:89,916,979 | T/C | — | uncertain significance |
| rs751821500 | 12:89,916,983 | A/C | — | uncertain significance |
| rs369106319 | 12:89,916,995 | C/A | — | uncertain significance |
| rs372408223 | 12:89,917,027 | T/C | — | uncertain significance |
| rs863223348 | 12:89,917,133 | G/A | synonymous variant | pathogenic |
| rs1730752596 | 12:89,917,143 | T/C | — | uncertain significance |
| rs1383717064 | 12:89,917,227 | C/T | — | uncertain significance |
| rs201453476 | 12:89,917,230 | T/C | — | uncertain significance |
| rs2540549571 | 12:89,917,342 | T/C | — | uncertain significance |
| rs2540550533 | 12:89,917,503 | A/G | — | uncertain significance |
| rs188465081 | 12:89,917,541 | A/T | — | benign |
| rs781525790 | 12:89,917,560 | A/G | — | uncertain significance |
| rs760474410 | 12:89,917,609 | G/C | — | uncertain significance |
| rs780529311 | 12:89,917,663 | C/T | — | uncertain significance |
| rs2540551722 | 12:89,917,702 | T/C | — | uncertain significance |
| rs2540551756 | 12:89,917,710 | C/T | — | uncertain significance |
| rs192512807 | 12:89,917,741 | C/G | — | uncertain significance |
| rs377506540 | 12:89,917,798 | T/A | — | uncertain significance |
| rs557300871 | 12:89,917,892 | G/C | — | uncertain significance |
| rs372143538 | 12:89,917,905 | A/G | — | uncertain significance |
| rs770482813 | 12:89,917,947 | T/C | — | uncertain significance |
| rs1272797046 | 12:89,917,968 | C/G | — | uncertain significance |
| rs2540553535 | 12:89,917,974 | T/A | — | uncertain significance |
| rs757121302 | 12:89,918,031 | C/A | — | uncertain significance |
| rs2540555267 | 12:89,918,201 | C/A | — | uncertain significance |
| rs779806435 | 12:89,918,203 | T/C | — | uncertain significance |
| rs2540555336 | 12:89,918,205 | G/A | — | uncertain significance |
| rs751289047 | 12:89,918,209 | G/T | — | uncertain significance |
| rs747670027 | 12:89,918,221 | C/A | — | uncertain significance |
| rs2135783055 | 12:89,918,277 | A/C | — | uncertain significance |
| rs555150449 | 12:89,918,308 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.