MARCHF8
membrane associated ring-CH-type finger 8
Summary
MARCH8 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH8 induces the internalization of several membrane glycoproteins (Goto et al., 2003 [PubMed 12582153]; Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Apr 2010]
Known Variants52 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs116840852 | 10:45,950,055 | T/C | regulatory region variant | — |
| rs3802548 | 10:45,952,745 | T/C | — | — |
| rs77677521 | 10:45,952,896 | C/G | upstream gene variant | — |
| rs2279434 | 10:45,955,064 | C/T | intron variant | — |
| rs558166733 | 10:45,957,195 | G/A | — | — |
| rs2291428 | 10:45,958,856 | G/C | regulatory region variant | — |
| rs2291429 | 10:45,958,881 | A/G | regulatory region variant | — |
| rs146266174 | 10:45,959,729 | A/G | missense variant | — |
| rs34731408 | 10:45,961,020 | C/T | intron variant | — |
| rs12767823 | 10:45,962,358 | A/G | intron variant | — |
| rs12761399 | 10:45,965,085 | G/A | intron variant | — |
| rs901683 | 10:45,966,422 | G/A | regulatory region variant | — |
| rs2310783 | 10:45,972,810 | G/C | intron variant | — |
| rs141395037 | 10:45,977,481 | G/A | intron variant | — |
| rs71494791 | 10:45,978,331 | C/A | — | — |
| rs11239536 | 10:45,978,598 | T/C | — | — |
| rs72796498 | 10:45,982,219 | C/T | intron variant | — |
| rs11239537 | 10:45,982,508 | T/C | intron variant | — |
| rs71494795 | 10:45,987,745 | C/T | intron variant | — |
| rs12764652 | 10:45,991,978 | G/A | intron variant | — |
| rs12249012 | 10:45,992,470 | G/C | — | — |
| rs11239538 | 10:45,994,596 | G/T | — | — |
| rs35081812 | 10:45,995,789 | C/G | intron variant | — |
| rs7076198 | 10:45,996,309 | C/T | intron variant | — |
| rs71494798 | 10:45,998,980 | G/A | intron variant | — |
| rs12243153 | 10:46,002,060 | T/A | intron variant | — |
| rs964686 | 10:46,003,812 | C/A | — | — |
| rs35993099 | 10:46,006,967 | T/A | intron variant | — |
| rs11239544 | 10:46,007,533 | C/T | — | — |
| rs76416966 | 10:46,008,203 | C/T | — | — |
| rs970548 | 10:46,013,277 | A/C | intron variant | — |
| rs11239549 | 10:46,018,831 | A/G | intron variant | — |
| rs10900223 | 10:46,021,631 | T/C | intron variant | — |
| rs55665473 | 10:46,022,005 | G/A | intron variant | — |
| rs34563674 | 10:46,022,152 | C/A | — | — |
| rs10900224 | 10:46,024,534 | C/T | intron variant | — |
| rs34897497 | 10:46,024,677 | A/G | intron variant | — |
| rs11239550 | 10:46,024,729 | A/G | intron variant | — |
| rs11239551 | 10:46,026,107 | G/A | intron variant | — |
| rs191058732 | 10:46,027,307 | G/C | intron variant | — |
| rs12257549 | 10:46,029,631 | C/A | — | — |
| rs571711119 | 10:46,032,836 | C/T | — | — |
| rs141404414 | 10:46,034,085 | G/A | intron variant | — |
| rs72798215 | 10:46,043,888 | G/A | intron variant | — |
| rs144972605 | 10:46,050,459 | G/A | intron variant | — |
| rs560756982 | 10:46,052,037 | T/A | — | — |
| rs118039797 | 10:46,054,993 | C/T | intron variant | — |
| rs12776336 | 10:46,063,911 | G/A | intron variant | — |
| rs61854123 | 10:46,065,451 | G/A | intron variant | — |
| rs78661209 | 10:46,074,939 | G/A | intron variant | — |
| rs12761573 | 10:46,079,517 | A/C | intron variant | — |
| rs12242611 | 10:46,084,243 | G/A | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.