GNE
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Summary
The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Known Variants821 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs886063914 | 9:36,214,485 | A/G | — | uncertain significance |
| rs886063915 | 9:36,214,515 | A/G | — | uncertain significance |
| rs140396892 | 9:36,214,573 | C/T | — | likely benign |
| rs886063916 | 9:36,214,596 | A/G | — | uncertain significance |
| rs1390610132 | 9:36,214,653 | A/G | — | uncertain significance |
| rs566044462 | 9:36,214,683 | C/T | — | uncertain significance |
| rs531142218 | 9:36,214,786 | T/C | — | likely benign |
| rs191345940 | 9:36,214,812 | C/T | — | uncertain significance |
| rs1042849497 | 9:36,214,825 | C/T | — | uncertain significance |
| rs1163596916 | 9:36,214,909 | G/T | — | uncertain significance |
| rs757287887 | 9:36,214,914 | T/C | — | uncertain significance |
| rs917794045 | 9:36,214,931 | T/C | — | uncertain significance |
| rs143569888 | 9:36,214,947 | A/T | — | conflicting classifications of pathogenicity |
| rs886063917 | 9:36,214,952 | C/G | — | uncertain significance |
| rs1043313 | 9:36,214,971 | A/G | — | benign |
| rs575299401 | 9:36,215,093 | G/A | — | likely benign |
| rs1193929989 | 9:36,215,117 | T/A | — | uncertain significance |
| rs150978860 | 9:36,215,151 | G/C | — | likely benign |
| rs1828216707 | 9:36,215,177 | A/T | — | uncertain significance |
| rs2741725 | 9:36,215,206 | C/G | — | benign |
| rs183641957 | 9:36,215,306 | G/A | — | likely benign |
| rs1828233358 | 9:36,215,508 | G/A | — | uncertain significance |
| rs7044157 | 9:36,215,536 | C/G | — | benign |
| rs16933086 | 9:36,215,581 | C/T | — | benign |
| rs41277097 | 9:36,215,634 | G/A | — | conflicting classifications of pathogenicity |
| rs886063918 | 9:36,215,668 | C/G | — | uncertain significance |
| rs185870650 | 9:36,215,702 | T/C | — | conflicting classifications of pathogenicity |
| rs190727651 | 9:36,215,727 | C/T | — | likely benign |
| rs761447556 | 9:36,215,787 | G/A | — | uncertain significance |
| rs183365416 | 9:36,216,158 | A/G | — | likely benign |
| rs1828268117 | 9:36,216,235 | G/A | — | uncertain significance |
| rs187875852 | 9:36,216,294 | T/A | — | benign |
| rs7048468 | 9:36,216,308 | G/T | — | benign |
| rs975309543 | 9:36,216,324 | A/G | — | uncertain significance |
| rs10435799 | 9:36,216,341 | T/C | — | likely benign |
| rs1192808563 | 9:36,216,355 | C/T | — | uncertain significance |
| rs916769105 | 9:36,216,374 | C/G | — | uncertain significance |
| rs191229205 | 9:36,216,425 | C/T | — | likely benign |
| rs56974443 | 9:36,216,426 | G/A | — | benign |
| rs1008750814 | 9:36,216,490 | G/A | — | uncertain significance |
| rs867926432 | 9:36,216,668 | A/T | — | uncertain significance |
| rs886063922 | 9:36,216,669 | T/A | — | uncertain significance |
| rs10972791 | 9:36,216,671 | T/A | — | uncertain significance |
| rs10972792 | 9:36,216,672 | A/T | — | uncertain significance |
| rs1373838375 | 9:36,216,699 | T/C | — | uncertain significance |
| rs150102934 | 9:36,216,732 | G/A | — | benign |
| rs182741472 | 9:36,216,779 | C/T | — | likely benign |
| rs999645453 | 9:36,216,780 | T/C | — | uncertain significance |
| rs1032415165 | 9:36,216,789 | C/T | — | uncertain significance |
| rs755277976 | 9:36,216,808 | C/T | — | uncertain significance |
| rs886063923 | 9:36,216,849 | C/T | — | uncertain significance |
| rs537851886 | 9:36,216,850 | G/A | — | uncertain significance |
| rs886063924 | 9:36,216,916 | G/A | — | uncertain significance |
| rs1335595008 | 9:36,217,070 | G/C | — | uncertain significance |
| rs745365886 | 9:36,217,110 | T/G | — | uncertain significance |
| rs771508931 | 9:36,217,154 | A/G | — | uncertain significance |
| rs16933089 | 9:36,217,288 | C/T | — | likely benign |
| rs540975887 | 9:36,217,332 | G/C | — | likely benign |
| rs2489580225 | 9:36,217,371 | C/T | — | likely benign |
| rs760226053 | 9:36,217,380 | T/C | — | likely benign |
| rs764012292 | 9:36,217,381 | G/C | — | uncertain significance |
| rs2489580390 | 9:36,217,389 | C/A | — | likely benign |
| rs28937594 | 9:36,217,396 | A/G | missense variant | pathogenic |
| rs2489580599 | 9:36,217,402 | G/A | — | uncertain significance |
| rs1282905700 | 9:36,217,404 | A/G | — | likely benign |
| rs1554657922 | 9:36,217,409 | C/T | — | likely pathogenic |
| rs886044099 | 9:36,217,411 | A/G | — | uncertain significance |
| rs750554841 | 9:36,217,412 | G/A | — | likely benign |
| rs1554657933 | 9:36,217,413 | C/T | — | likely benign |
| rs201216576 | 9:36,217,418 | C/T | — | uncertain significance |
| rs779967033 | 9:36,217,419 | G/A | — | likely benign |
| rs1211781070 | 9:36,217,422 | G/T | — | uncertain significance |
| rs370918582 | 9:36,217,426 | A/T | — | uncertain significance |
| rs2489581438 | 9:36,217,430 | A/C | — | uncertain significance |
| rs200490682 | 9:36,217,434 | C/T | — | conflicting classifications of pathogenicity |
| rs552758282 | 9:36,217,435 | G/A | — | conflicting classifications of pathogenicity |
| rs1828371895 | 9:36,217,436 | A/T | — | uncertain significance |
| rs1587270856 | 9:36,217,438 | A/G | — | uncertain significance |
| rs121908627 | 9:36,217,445 | C/T | missense variant | pathogenic |
| rs2132992452 | 9:36,217,446 | A/G | — | likely benign |
| rs2132992493 | 9:36,217,448 | C/A | — | uncertain significance |
| rs771658438 | 9:36,217,449 | C/G | — | likely benign |
| rs935868387 | 9:36,217,451 | C/T | — | uncertain significance |
| rs548244588 | 9:36,217,452 | G/A | — | conflicting classifications of pathogenicity |
| rs760445653 | 9:36,217,458 | C/T | — | likely benign |
| rs763775540 | 9:36,217,460 | C/T | — | uncertain significance |
| rs776582567 | 9:36,217,461 | G/A | — | conflicting classifications of pathogenicity |
| rs1392550259 | 9:36,217,468 | A/G | — | uncertain significance |
| rs765296741 | 9:36,217,470 | G/C | — | likely benign |
| rs758253709 | 9:36,217,475 | G/A | — | likely pathogenic |
| rs2489582294 | 9:36,217,476 | C/T | — | likely benign |
| rs549097855 | 9:36,217,480 | C/T | — | uncertain significance |
| rs139347806 | 9:36,217,481 | G/A | — | uncertain significance |
| rs768384042 | 9:36,217,487 | C/T | — | uncertain significance |
| rs568010488 | 9:36,217,488 | G/T | — | uncertain significance |
| rs1179955008 | 9:36,217,493 | T/C | — | uncertain significance |
| rs1828379695 | 9:36,217,498 | A/G | — | uncertain significance |
| rs527267621 | 9:36,217,502 | G/A | — | uncertain significance |
| rs1479027996 | 9:36,217,506 | A/T | — | pathogenic |
| rs2489583038 | 9:36,217,507 | T/C | — | conflicting classifications of pathogenicity |
Showing 100 of 821 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.