CHMP3
charged multivesicular body protein 3
Summary
This gene encodes a protein that sorts transmembrane proteins into lysosomes/vacuoles via the multivesicular body (MVB) pathway. This protein, along with other soluble coiled-coil containing proteins, forms part of the ESCRT-III protein complex that binds to the endosomal membrane and recruits additional cofactors for protein sorting into the MVB. This protein may also co-immunoprecipitate with a member of the IFG-binding protein superfamily. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ring finger protein 103 (RNF103) gene. [provided by RefSeq, Nov 2010]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1200503151 | 2:86,733,052 | T/C | — | uncertain significance |
| rs144721613 | 2:86,734,668 | C/T | — | uncertain significance |
| rs199633699 | 2:86,734,669 | G/T | — | uncertain significance |
| rs11127043 | 2:86,738,324 | C/T | downstream gene variant | — |
| rs72932350 | 2:86,744,230 | T/C | upstream gene variant | — |
| rs752418529 | 2:86,756,377 | T/C | — | uncertain significance |
| rs757322286 | 2:86,756,394 | T/C | — | uncertain significance |
| rs139264120 | 2:86,756,472 | G/A | — | uncertain significance |
| rs2466233565 | 2:86,756,488 | A/C | — | uncertain significance |
| rs762716183 | 2:86,756,511 | C/G | — | uncertain significance |
| rs7593151 | 2:86,765,100 | G/C | — | — |
| rs540948421 | 2:86,769,412 | T/C | — | uncertain significance |
| rs2466279748 | 2:86,769,429 | C/T | — | uncertain significance |
| rs113652961 | 2:86,782,502 | G/C | — | — |
| rs2466365496 | 2:86,790,432 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.