ASAH2
N-acylsphingosine amidohydrolase 2
Summary
Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs750753468 | 10:51,974,504 | C/G | — | uncertain significance |
| rs781281745 | 10:51,974,540 | G/A | — | uncertain significance |
| rs1049240936 | 10:51,978,193 | A/G | — | — |
| rs768445108 | 10:51,978,294 | C/A | — | uncertain significance |
| rs1179980943 | 10:51,994,305 | T/G | — | uncertain significance |
| rs202183815 | 10:51,994,615 | C/G | — | — |
| rs1238593835 | 10:52,003,002 | C/T | — | uncertain significance |
| rs766598373 | 10:52,003,017 | C/T | — | uncertain significance |
| rs75185087 | 10:52,003,111 | T/C | — | uncertain significance |
| rs749343345 | 10:52,005,004 | C/A | — | uncertain significance |
| rs116049719 | 10:52,005,095 | G/A | stop gained | — |
| rs2540641867 | 10:52,005,106 | G/A | — | uncertain significance |
| rs757786642 | 10:52,005,121 | G/A | — | uncertain significance |
| rs141713369 | 10:52,005,146 | G/A | — | uncertain significance |
| rs1369862 | 10:52,006,008 | A/C | — | — |
| rs1273730300 | 10:52,008,259 | T/C | — | uncertain significance |
| rs1466227254 | 10:52,008,272 | G/C | — | uncertain significance |
| rs180822330 | 10:52,008,274 | T/C | — | uncertain significance |
| rs745613507 | 10:52,008,307 | C/T | — | uncertain significance |
| rs10508921 | 10:52,010,708 | C/T | upstream gene variant | — |
| rs11004802 | 10:52,011,440 | G/C | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.