ENPP7
ectonucleotide pyrophosphatase/phosphodiesterase 7
Summary
The protein encoded by this gene is an intestinal alkaline sphingomyelin phosphodiesterase that converts sphingomyelin to ceramide and phosphocholine. The encoded protein is anchored in the cell membrane, and it may function to protect the intestinal mucosa from inflammation and tumorigenesis. This protein is glycosylated and also exhibits lysophosphatidylcholine hydrolase activity. [provided by RefSeq, Oct 2016]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs8076533 | 17:77,704,314 | C/G | — | — |
| rs551448481 | 17:77,704,942 | C/T | — | uncertain significance |
| rs193920826 | 17:77,704,969 | C/T | — | uncertain significance |
| rs782250551 | 17:77,705,037 | G/C | — | uncertain significance |
| rs142401033 | 17:77,705,046 | G/A | — | uncertain significance |
| rs782122693 | 17:77,705,095 | G/A | — | uncertain significance |
| rs11868696 | 17:77,706,406 | A/G | regulatory region variant | — |
| rs113286331 | 17:77,707,282 | C/T | regulatory region variant | — |
| rs138305176 | 17:77,707,364 | G/T | — | uncertain significance |
| rs145931726 | 17:77,707,422 | G/A | — | uncertain significance |
| rs376880357 | 17:77,708,906 | C/T | — | uncertain significance |
| rs781807069 | 17:77,709,091 | C/T | — | uncertain significance |
| rs150755220 | 17:77,709,103 | C/T | — | uncertain significance |
| rs782033167 | 17:77,709,119 | T/A | — | uncertain significance |
| rs201532960 | 17:77,709,133 | G/A | — | uncertain significance |
| rs782753137 | 17:77,709,151 | G/A | — | uncertain significance |
| rs2515419981 | 17:77,709,160 | A/G | — | uncertain significance |
| rs765855572 | 17:77,709,191 | C/T | — | uncertain significance |
| rs372623650 | 17:77,709,206 | G/A | — | likely benign |
| rs782158669 | 17:77,709,214 | G/A | — | uncertain significance |
| rs782637043 | 17:77,709,253 | C/T | — | uncertain significance |
| rs751022720 | 17:77,709,287 | C/T | — | uncertain significance |
| rs782051159 | 17:77,709,374 | A/G | — | uncertain significance |
| rs782505562 | 17:77,709,397 | T/C | — | likely benign |
| rs145186981 | 17:77,709,406 | G/A | — | uncertain significance |
| rs2515420950 | 17:77,709,416 | C/A | — | uncertain significance |
| rs376152367 | 17:77,709,440 | A/G | — | uncertain significance |
| rs567900911 | 17:77,709,445 | G/A | — | uncertain significance |
| rs201643146 | 17:77,710,915 | G/A | — | uncertain significance |
| rs139719997 | 17:77,710,990 | C/T | — | likely benign |
| rs148504454 | 17:77,711,018 | A/G | missense variant | — |
| rs782113195 | 17:77,711,020 | G/A | — | uncertain significance |
| rs782035151 | 17:77,711,030 | T/C | — | likely benign |
| rs782048077 | 17:77,711,032 | G/C | — | uncertain significance |
| rs782484935 | 17:77,711,718 | C/T | — | uncertain significance |
| rs782663065 | 17:77,711,727 | C/T | — | likely benign |
| rs141369724 | 17:77,711,798 | G/A | — | uncertain significance |
| rs782454569 | 17:77,711,819 | G/A | — | likely benign |
| rs782443979 | 17:77,711,840 | G/A | — | uncertain significance |
| rs62077884 | 17:77,713,416 | A/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.