CHST11
carbohydrate sulfotransferase 11
Summary
The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. A chromosomal translocation involving this gene and IgH, t(12;14)(q23;q32), has been reported in a patient with B-cell chronic lymphocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Known Variants33 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs200653714 | 12:104,851,183 | C/A | — | likely benign |
| rs1397742557 | 12:104,851,193 | A/C | — | uncertain significance |
| rs1270126457 | 12:104,851,211 | G/A | — | uncertain significance |
| rs1267864440 | 12:104,851,284 | A/G | — | uncertain significance |
| rs10861224 | 12:104,870,424 | G/C | intron variant | — |
| rs958447 | 12:104,946,021 | G/A | — | — |
| rs576348628 | 12:104,952,378 | G/A | — | — |
| rs76960947 | 12:104,957,537 | T/G | intron variant | — |
| rs79225797 | 12:104,976,498 | T/C | regulatory region variant | — |
| rs1650132 | 12:104,981,657 | A/G | upstream gene variant | — |
| rs59539976 | 12:104,984,630 | G/C | — | — |
| rs751265537 | 12:104,995,690 | G/A | — | uncertain significance |
| rs143034625 | 12:104,995,739 | C/T | — | likely benign |
| rs12811699 | 12:105,017,164 | C/T | intron variant | — |
| rs7978063 | 12:105,049,059 | G/C | — | — |
| rs835487 | 12:105,060,767 | A/G | intron variant | — |
| rs835488 | 12:105,061,008 | C/T | regulatory region variant | — |
| rs771590478 | 12:105,087,971 | G/A | — | — |
| rs1331592239 | 12:105,150,727 | C/T | — | likely benign |
| rs767553479 | 12:105,150,767 | G/A | — | uncertain significance |
| rs150467488 | 12:105,150,812 | G/A | — | uncertain significance |
| rs138320785 | 12:105,150,818 | G/A | — | likely benign |
| rs773060984 | 12:105,150,823 | G/A | — | uncertain significance |
| rs757358769 | 12:105,151,008 | G/C | — | uncertain significance |
| rs1444343479 | 12:105,151,040 | A/G | — | uncertain significance |
| rs527621055 | 12:105,151,046 | G/A | — | uncertain significance |
| rs763372855 | 12:105,151,090 | G/A | — | uncertain significance |
| rs763247584 | 12:105,151,177 | C/T | — | uncertain significance |
| rs1313972477 | 12:105,151,181 | A/G | — | uncertain significance |
| rs148230565 | 12:105,151,192 | G/C | — | conflicting classifications of pathogenicity |
| rs2040488513 | 12:105,151,219 | G/A | — | uncertain significance |
| rs758294420 | 12:105,151,234 | G/A | — | uncertain significance |
| rs150778990 | 12:105,151,387 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.