GPNMB
glycoprotein nmb
Summary
The protein encoded by this gene is a type I transmembrane glycoprotein which shows homology to the pMEL17 precursor, a melanocyte-specific protein. GPNMB shows expression in the lowly metastatic human melanoma cell lines and xenografts but does not show expression in the highly metastatic cell lines. GPNMB may be involved in growth delay and reduction of metastatic potential. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants73 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs150499567 | 7:23,286,486 | C/T | — | uncertain significance |
| rs115100573 | 7:23,286,509 | G/A | — | benign |
| rs35519567 | 7:23,286,525 | T/C | — | benign |
| rs140122424 | 7:23,286,529 | C/T | — | likely benign |
| rs370332714 | 7:23,286,540 | G/T | — | uncertain significance |
| rs10262243 | 7:23,290,987 | G/T | — | — |
| rs1274689424 | 7:23,293,031 | A/C | — | uncertain significance |
| rs199840471 | 7:23,293,046 | G/A | — | uncertain significance |
| rs199347 | 7:23,293,746 | A/G | regulatory region variant | — |
| rs200247677 | 7:23,293,790 | G/T | — | likely benign |
| rs571001843 | 7:23,293,821 | C/T | — | uncertain significance |
| rs113932410 | 7:23,293,831 | C/T | — | likely benign |
| rs202078752 | 7:23,293,854 | C/T | — | benign |
| rs1583817383 | 7:23,293,903 | C/T | — | likely benign |
| rs373987305 | 7:23,293,933 | T/C | — | uncertain significance |
| rs858275 | 7:23,294,144 | T/C | regulatory region variant | — |
| rs199355 | 7:23,296,533 | G/A | — | benign |
| rs146184286 | 7:23,296,564 | G/T | — | likely benign |
| rs199354 | 7:23,296,572 | C/T | — | benign |
| rs201016099 | 7:23,296,573 | G/A | — | uncertain significance |
| rs375038413 | 7:23,296,612 | C/T | — | uncertain significance |
| rs138282862 | 7:23,296,669 | G/A | — | uncertain significance |
| rs2533963426 | 7:23,299,604 | T/G | — | uncertain significance |
| rs140352180 | 7:23,299,622 | C/T | stop gained | pathogenic |
| rs17147995 | 7:23,299,648 | C/T | — | likely benign |
| rs776089652 | 7:23,299,655 | A/G | — | uncertain significance |
| rs201982196 | 7:23,299,676 | C/T | — | uncertain significance |
| rs149547294 | 7:23,299,684 | A/T | — | uncertain significance |
| rs2533963700 | 7:23,299,685 | G/A | — | uncertain significance |
| rs777510004 | 7:23,299,710 | G/C | — | uncertain significance |
| rs770211260 | 7:23,299,717 | T/G | stop gained | pathogenic |
| rs146153901 | 7:23,299,743 | T/C | — | uncertain significance |
| rs371776692 | 7:23,300,073 | A/C | — | likely pathogenic |
| rs748648530 | 7:23,300,108 | A/G | — | uncertain significance |
| rs771139651 | 7:23,300,117 | G/A | — | uncertain significance |
| rs1204681156 | 7:23,300,129 | A/G | — | uncertain significance |
| rs779233817 | 7:23,300,152 | C/T | — | uncertain significance |
| rs1382643708 | 7:23,300,182 | C/T | — | uncertain significance |
| rs35019508 | 7:23,300,184 | T/A | — | benign |
| rs201502324 | 7:23,300,194 | C/G | — | uncertain significance |
| rs146873412 | 7:23,300,250 | T/G | — | uncertain significance |
| rs900231575 | 7:23,300,297 | C/A | — | uncertain significance |
| rs35363287 | 7:23,300,345 | C/T | — | benign |
| rs752022015 | 7:23,300,363 | C/A | — | uncertain significance |
| rs149472924 | 7:23,300,402 | C/T | — | likely benign |
| rs156429 | 7:23,306,020 | T/C | intron variant | — |
| rs749097905 | 7:23,306,187 | G/T | — | uncertain significance |
| rs373497685 | 7:23,306,240 | G/C | — | likely benign |
| rs156428 | 7:23,306,500 | C/T | intron variant | — |
| rs777204409 | 7:23,307,503 | A/G | — | pathogenic |
| rs1390457982 | 7:23,307,580 | T/C | — | uncertain significance |
| rs140819013 | 7:23,307,590 | C/T | — | likely benign |
| rs146238405 | 7:23,307,591 | G/A | — | uncertain significance |
| rs372382046 | 7:23,309,581 | C/T | — | likely benign |
| rs532376238 | 7:23,309,594 | C/T | — | uncertain significance |
| rs1294200699 | 7:23,309,596 | G/A | — | uncertain significance |
| rs34824876 | 7:23,309,664 | T/G | — | benign |
| rs547758286 | 7:23,309,695 | C/T | — | likely pathogenic |
| rs771327727 | 7:23,309,705 | A/G | — | likely benign |
| rs371885339 | 7:23,313,184 | G/A | — | uncertain significance |
| rs144208310 | 7:23,313,199 | A/G | — | likely benign |
| rs146559546 | 7:23,313,217 | T/C | — | uncertain significance |
| rs762478565 | 7:23,313,218 | C/T | — | uncertain significance |
| rs202073355 | 7:23,313,698 | A/C | — | uncertain significance |
| rs2533998314 | 7:23,313,721 | G/A | — | uncertain significance |
| rs772661002 | 7:23,313,734 | G/C | — | uncertain significance |
| rs35878037 | 7:23,313,738 | C/A | — | benign |
| rs78340800 | 7:23,313,745 | C/T | — | benign |
| rs759719661 | 7:23,313,764 | G/A | — | likely benign |
| rs763870261 | 7:23,313,775 | G/A | — | uncertain significance |
| rs748469957 | 7:23,313,792 | C/T | — | likely benign |
| rs35439325 | 7:23,313,807 | G/A | — | likely benign |
| rs11537976 | 7:23,313,823 | G/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.