SUMF2
sulfatase modifying factor 2
Summary
The catalytic sites of sulfatases are only active if they contain a unique amino acid, C-alpha-formylglycine (FGly). The FGly residue is posttranslationally generated from a cysteine by enzymes with FGly-generating activity. The gene described in this record is a member of the sulfatase-modifying factor family and encodes a protein with a DUF323 domain that localizes to the lumen of the endoplasmic reticulum. This protein has low levels of FGly-generating activity but can heterodimerize with another family member - a protein with high levels of FGly-generating activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Known Variants47 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs372520789 | 7:56,131,956 | G/T | — | likely benign |
| rs536266992 | 7:56,131,957 | C/T | — | uncertain significance |
| rs1317724915 | 7:56,131,976 | G/A | — | uncertain significance |
| rs746826133 | 7:56,131,993 | G/T | — | uncertain significance |
| rs369214641 | 7:56,132,011 | C/T | — | uncertain significance |
| rs758331743 | 7:56,132,015 | A/C | — | uncertain significance |
| rs771439830 | 7:56,132,032 | C/G | — | uncertain significance |
| rs761540396 | 7:56,132,036 | T/G | — | uncertain significance |
| rs765026931 | 7:56,132,039 | T/C | — | uncertain significance |
| rs1054270698 | 7:56,132,051 | T/C | — | uncertain significance |
| rs1262288764 | 7:56,132,061 | G/C | — | uncertain significance |
| rs373775303 | 7:56,136,183 | C/T | — | uncertain significance |
| rs4245575 | 7:56,136,260 | C/A | missense variant | — |
| rs150976522 | 7:56,136,270 | C/T | — | uncertain significance |
| rs201424679 | 7:56,136,277 | C/T | — | likely benign |
| rs377302843 | 7:56,136,309 | C/T | — | uncertain significance |
| rs371197888 | 7:56,136,316 | C/A | — | uncertain significance |
| rs7806994 | 7:56,139,505 | A/T | intron variant | — |
| rs1280514684 | 7:56,140,719 | C/A | — | uncertain significance |
| rs1419178545 | 7:56,140,788 | C/T | — | uncertain significance |
| rs151327169 | 7:56,142,306 | G/A | — | uncertain significance |
| rs753463356 | 7:56,142,318 | C/T | — | uncertain significance |
| rs1795411489 | 7:56,142,322 | C/T | — | uncertain significance |
| rs771142780 | 7:56,142,370 | G/A | — | uncertain significance |
| rs959678006 | 7:56,142,395 | A/C | — | uncertain significance |
| rs141313937 | 7:56,142,415 | G/A | — | uncertain significance |
| rs756416356 | 7:56,144,541 | T/C | — | uncertain significance |
| rs149087624 | 7:56,144,566 | G/A | missense variant | — |
| rs145277733 | 7:56,144,572 | A/C | — | uncertain significance |
| rs375373528 | 7:56,145,804 | C/G | — | uncertain significance |
| rs1562869868 | 7:56,145,811 | G/A | — | uncertain significance |
| rs746368596 | 7:56,145,814 | A/G | — | uncertain significance |
| rs2535747132 | 7:56,145,838 | G/C | — | likely benign |
| rs145138273 | 7:56,146,634 | G/T | — | benign |
| rs186963977 | 7:56,146,715 | A/G | — | likely benign |
| rs13226699 | 7:56,146,737 | G/A | — | benign |
| rs756935436 | 7:56,147,254 | C/T | — | uncertain significance |
| rs542909238 | 7:56,147,265 | G/A | — | uncertain significance |
| rs144486745 | 7:56,147,272 | T/C | — | uncertain significance |
| rs2535763430 | 7:56,147,275 | A/G | — | uncertain significance |
| rs757272517 | 7:56,147,311 | C/T | — | uncertain significance |
| rs200931927 | 7:56,147,350 | C/T | — | uncertain significance |
| rs760415764 | 7:56,147,375 | C/T | — | likely benign |
| rs200000444 | 7:56,147,411 | G/T | — | uncertain significance |
| rs374964128 | 7:56,147,508 | T/C | — | likely benign |
| rs183275935 | 7:56,147,510 | T/A | — | likely benign |
| rs1045074503 | 7:56,147,532 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.