MARCHF2
membrane associated ring-CH-type finger 2
Summary
MARCH2 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. MARCH2 reduces surface accumulation of several glycoproteins and appears to regulate early endosome-to-trans-Golgi network (TGN) trafficking (Bartee et al., 2004 [PubMed 14722266]; Nakamura et al., 2005 [PubMed 15689499]).[supplied by OMIM, Mar 2010]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12979798 | 19:8,484,632 | A/T | — | — |
| rs12978137 | 19:8,485,028 | T/G | — | — |
| rs62117527 | 19:8,486,332 | T/A | — | — |
| rs770136392 | 19:8,486,729 | C/T | — | uncertain significance |
| rs774911005 | 19:8,486,740 | T/C | — | uncertain significance |
| rs141281179 | 19:8,486,776 | G/A | — | uncertain significance |
| rs767773136 | 19:8,486,785 | G/A | — | uncertain significance |
| rs554515095 | 19:8,488,999 | G/A | — | — |
| rs1261960432 | 19:8,491,518 | C/T | — | uncertain significance |
| rs763102811 | 19:8,491,528 | C/T | — | uncertain significance |
| rs780312175 | 19:8,491,533 | G/A | — | uncertain significance |
| rs371023238 | 19:8,491,648 | C/T | — | uncertain significance |
| rs757969192 | 19:8,491,654 | T/C | — | uncertain significance |
| rs1450260363 | 19:8,495,542 | T/C | — | uncertain significance |
| rs528213192 | 19:8,495,563 | C/G | — | uncertain significance |
| rs992957811 | 19:8,495,651 | G/A | — | uncertain significance |
| rs751224345 | 19:8,495,654 | G/A | — | uncertain significance |
| rs142074844 | 19:8,495,708 | C/T | — | uncertain significance |
| rs369120944 | 19:8,495,735 | A/G | — | uncertain significance |
| rs199698771 | 19:8,495,747 | C/T | — | uncertain significance |
| rs7408474 | 19:8,502,105 | C/A | intron variant | — |
| rs2512805835 | 19:8,503,314 | A/G | — | uncertain significance |
| rs139486670 | 19:8,503,318 | C/T | — | uncertain significance |
| rs778056147 | 19:8,503,343 | C/T | — | likely benign |
| rs34099346 | 19:8,503,345 | G/C | — | uncertain significance |
| rs150682453 | 19:8,503,360 | C/T | — | uncertain significance |
| rs143906987 | 19:8,503,361 | C/T | — | likely benign |
| rs1055554 | 19:8,503,621 | T/G | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.