GPNMB Chromosome 7
Glycoprotein nmb
Upload your DNA to see your personal genotypes for variants in GPNMB.
What This Gene Does
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]
Associated Conditions (5)
GPNMB-related disorder
Familial cancer of breast
Amyloidosis
primary localized cutaneous
3
Key Variants
RS371776692
Likely pathogenic
GPNMB-related disorder, Familial cancer of breast, GPNMB-related disorder
Health Risk
RS547758286
Likely pathogenic
Amyloidosis, primary localized cutaneous, 3
Health Risk
RS140352180
Pathogenic
Amyloidosis, primary localized cutaneous, 3
Health Risk
RS1554300664
Pathogenic
Amyloidosis, primary localized cutaneous, 3
Health Risk
RS747723062
Pathogenic
Amyloidosis, primary localized cutaneous, 3
Health Risk
RS761169411
Pathogenic
Health Risk
RS763065333
Pathogenic
Amyloidosis, primary localized cutaneous, 3
Health Risk
RS770211260
Pathogenic
Amyloidosis, primary localized cutaneous, 3
Health Risk
RS773435101
Pathogenic
Amyloidosis, primary localized cutaneous, 3
Health Risk
RS777204409
Pathogenic
Amyloidosis, primary localized cutaneous, 3
Health Risk
RS758729806
Pathogenic/Likely pathogenic
Amyloidosis, primary localized cutaneous, 3
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS371776692 | Health Risk | Likely pathogenic | GPNMB-related disorder, Familial cancer of breast, GPNMB-related disorder |
| RS547758286 | Health Risk | Likely pathogenic | Amyloidosis, primary localized cutaneous, 3 |
| RS140352180 | Health Risk | Pathogenic | Amyloidosis, primary localized cutaneous, 3 |
| RS1554300664 | Health Risk | Pathogenic | Amyloidosis, primary localized cutaneous, 3 |
| RS747723062 | Health Risk | Pathogenic | Amyloidosis, primary localized cutaneous, 3 |
| RS761169411 | Health Risk | Pathogenic | — |
| RS763065333 | Health Risk | Pathogenic | Amyloidosis, primary localized cutaneous, 3 |
| RS770211260 | Health Risk | Pathogenic | Amyloidosis, primary localized cutaneous, 3 |
| RS773435101 | Health Risk | Pathogenic | Amyloidosis, primary localized cutaneous, 3 |
| RS777204409 | Health Risk | Pathogenic | Amyloidosis, primary localized cutaneous, 3 |
| RS758729806 | Health Risk | Pathogenic/Likely pathogenic | Amyloidosis, primary localized cutaneous, 3 |