OGA
O-GlcNAcase
Summary
The dynamic modification of cytoplasmic and nuclear proteins by O-linked N-acetylglucosamine (O-GlcNAc) addition and removal on serine and threonine residues is catalyzed by OGT (MIM 300255), which adds O-GlcNAc, and MGEA5, a glycosidase that removes O-GlcNAc modifications (Gao et al., 2001 [PubMed 11148210]).[supplied by OMIM, Mar 2008]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1275593539 | 10:103,546,339 | G/A | — | uncertain significance |
| rs771152954 | 10:103,547,222 | T/C | — | uncertain significance |
| rs149613931 | 10:103,550,281 | G/T | intron variant | — |
| rs2539403952 | 10:103,552,622 | T/G | — | uncertain significance |
| rs144130241 | 10:103,552,631 | C/T | — | uncertain significance |
| rs2539403996 | 10:103,552,633 | T/C | — | uncertain significance |
| rs201737469 | 10:103,558,731 | C/A | — | uncertain significance |
| rs150068828 | 10:103,558,745 | G/C | — | uncertain significance |
| rs2065356434 | 10:103,558,832 | G/C | — | uncertain significance |
| rs765894089 | 10:103,558,892 | T/G | — | uncertain significance |
| rs764632409 | 10:103,558,981 | T/A | — | uncertain significance |
| rs370288930 | 10:103,559,057 | G/T | — | uncertain significance |
| rs1272468597 | 10:103,559,063 | T/G | — | uncertain significance |
| rs199563939 | 10:103,559,126 | C/T | — | uncertain significance |
| rs139911468 | 10:103,560,160 | A/G | — | likely benign |
| rs2305192 | 10:103,560,321 | T/C | intron variant | — |
| rs2539437433 | 10:103,563,702 | C/T | — | uncertain significance |
| rs1277662599 | 10:103,565,908 | T/C | — | likely benign |
| rs3740422 | 10:103,565,960 | G/C | intron variant | — |
| rs773302723 | 10:103,567,650 | C/G | — | uncertain significance |
| rs2539456614 | 10:103,569,979 | G/A | — | uncertain significance |
| rs200540327 | 10:103,573,370 | T/G | — | benign |
| rs1436051486 | 10:103,577,604 | C/T | — | uncertain significance |
| rs1341452829 | 10:103,577,628 | G/A | — | uncertain significance |
| rs766008174 | 10:103,577,640 | C/T | — | uncertain significance |
| rs578070762 | 10:103,577,644 | C/G | — | uncertain significance |
| rs775506618 | 10:103,577,700 | G/A | — | uncertain significance |
| rs749515947 | 10:103,577,706 | G/A | — | uncertain significance |
| rs748597306 | 10:103,577,771 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.