MVB12B
multivesicular body subunit 12B
Summary
The protein encoded by this gene is a component of the ESCRT-I complex, a heterotetramer, which mediates the sorting of ubiquitinated cargo protein from the plasma membrane to the endosomal vesicle. ESCRT-I complex plays an essential role in HIV budding and endosomal protein sorting. Depletion and overexpression of this and related protein (MVB12A) inhibit HIV-1 infectivity and induce unusual viral assembly defects, indicating a role for MVB12 subunits in regulating ESCRT-mediated virus budding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1888156 | 9:129,102,840 | A/G | — | benign |
| rs370526944 | 9:129,102,844 | A/G | — | uncertain significance |
| rs750528154 | 9:129,102,850 | C/G | — | uncertain significance |
| rs376223657 | 9:129,102,880 | C/T | — | uncertain significance |
| rs1200381628 | 9:129,102,899 | G/A | — | uncertain significance |
| rs2286889 | 9:129,143,435 | A/G | — | benign |
| rs1830800777 | 9:129,148,863 | T/C | — | uncertain significance |
| rs142076731 | 9:129,148,916 | A/G | — | uncertain significance |
| rs73668018 | 9:129,151,884 | C/T | intron variant | — |
| rs138999709 | 9:129,154,403 | G/A | — | likely benign |
| rs9696000 | 9:129,154,426 | G/A | — | uncertain significance |
| rs777234498 | 9:129,154,455 | C/G | — | uncertain significance |
| rs184316811 | 9:129,157,850 | A/G | — | likely benign |
| rs141017138 | 9:129,157,928 | C/T | — | uncertain significance |
| rs756508587 | 9:129,157,929 | G/A | — | likely benign |
| rs200109520 | 9:129,157,967 | A/C | — | uncertain significance |
| rs774438553 | 9:129,184,168 | G/T | — | uncertain significance |
| rs144763623 | 9:129,184,186 | C/T | — | uncertain significance |
| rs1490977058 | 9:129,184,194 | G/A | — | uncertain significance |
| rs77112238 | 9:129,187,603 | A/G | upstream gene variant | — |
| rs758970 | 9:129,194,773 | A/C | — | — |
| rs180989124 | 9:129,232,278 | T/C | intron variant | — |
| rs4836544 | 9:129,236,355 | C/T | intron variant | — |
| rs376929504 | 9:129,246,242 | G/A | — | likely benign |
| rs2286885 | 9:129,246,487 | A/T | — | — |
| rs7027798 | 9:129,257,152 | C/A | — | — |
| rs768963559 | 9:129,265,446 | G/A | — | likely benign |
| rs772651109 | 9:129,265,471 | C/G | — | uncertain significance |
| rs62640044 | 9:129,265,500 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.