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

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
36
Likely pathogenic
0
VUS
1,120
Likely benign
2,030
Benign
51

Patient phenotypes

Proportions of phenotypes among 36 patients carring pathogenic or likely pathogenic variants on GPNMB gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
47.2%
Abnormality of the eye
30.6%
Abnormality of the musculoskeletal system
30.6%
Abnormality of the genitourinary system
19.4%
Abnormality of head or neck
16.7%
Abnormality of the cardiovascular system
16.7%
Abnormality of the digestive system
16.7%
Abnormality of limbs
11.1%
Growth abnormality
11.1%
Abnormality of the immune system
8.3%
Abnormality of the integument
8.3%
Abnormality of blood and blood-forming tissues
5.6%
Abnormality of the ear
5.6%
Neoplasm
5.6%
Abnormality of prenatal development or birth
2.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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