Home > Gene Browser > GPNMB

GPNMB

Synonyms
HGFIN, NMB, PLCA3
External resources
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
58
Likely pathogenic
0
VUS
1,760
Likely benign
1,516
Benign
138

Patient phenotypes

Proportions of phenotypes among 58 patients carrying pathogenic or likely pathogenic variants on GPNMB gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
51.7%
Abnormality of the eye
31%
Abnormality of the musculoskeletal system
29.3%
Abnormality of head or neck
19%
Abnormality of the cardiovascular system
19%
Growth abnormality
15.5%
Abnormality of the genitourinary system
13.8%
Abnormality of the digestive system
12.1%
Abnormality of the ear
12.1%
Abnormality of the immune system
12.1%
Abnormality of limbs
10.3%
Abnormality of the integument
8.6%
Abnormality of blood and blood-forming tissues
6.9%
Neoplasm
5.2%
Abnormality of prenatal development or birth
1.7%
Abnormality of the endocrine system
1.7%
Abnormality of the respiratory system
1.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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