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GPNMB glycoprotein nmb [ Homo sapiens (human) ]

Gene ID: 10457, updated on 11-Apr-2024

Summary

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Official Symbol
GPNMBprovided by HGNC
Official Full Name
glycoprotein nmbprovided by HGNC
Primary source
HGNC:HGNC:4462
See related
Ensembl:ENSG00000136235 MIM:604368; AllianceGenome:HGNC:4462
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NMB; HGFIN; PLCA3
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]
Expression
Broad expression in skin (RPKM 225.4), gall bladder (RPKM 143.5) and 17 other tissues See more
Orthologs
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Genomic context

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See GPNMB in Genome Data Viewer
Location:
7p15.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (23246775..23275108)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (23383213..23411546)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (23286394..23314727)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25720 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:23232880-23233451 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25721 Neighboring gene nucleoporin 42 Neighboring gene uncharacterized LOC101927890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25722 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25723 Neighboring gene MPRA-validated peak6433 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr7:23311287-23311491 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18007 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25724 Neighboring gene MPRA-validated peak6435 silencer Neighboring gene mitochondrial assembly of ribosomal large subunit 1 Neighboring gene insulin like growth factor 2 mRNA binding protein 3 Neighboring gene Sharpr-MPRA regulatory region 6228 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:23394340-23394499 Neighboring gene Sharpr-MPRA regulatory region 10260 Neighboring gene small nucleolar RNA, C/D box 65C

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. GPNMB-Positive Cells in Head and Neck Squamous Cell Carcinoma-Their Roles in Cancer Stemness, Therapy Resistance, and Metastasis. Kawasaki Y, et al. Pathol Oncol Res, 2022. PMID 36061142, Free PMC Article
  2. GPNMB: a potent inducer of immunosuppression in cancer. Lazaratos AM, et al. Oncogene, 2022 Oct. PMID 36050467
  3. GPNMB confers risk for Parkinson's disease through interaction with α-synuclein. Diaz-Ortiz ME, et al. Science, 2022 Aug 19. PMID 35981040, Free PMC Article
  4. Glycoprotein nonmetastatic melanoma protein B (GNMPB) as a novel biomarker for cerebral adrenoleukodystrophy. Taghizadeh LA, et al. Sci Rep, 2022 May 14. PMID 35568699, Free PMC Article
  5. GPNMB expression identifies TSC1/2/mTOR-associated and MiT family translocation-driven renal neoplasms. Salles DC, et al. J Pathol, 2022 Jun. PMID 35072947, Free PMC Article

See all (128) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Tumor associated microglia/macrophages utilize GPNMB to promote tumor growth and alter immune cell infiltration in glioma.
    Title: Tumor associated microglia/macrophages utilize GPNMB to promote tumor growth and alter immune cell infiltration in glioma.
  2. The association between plasma GPNMB and Parkinson's disease and multiple system atrophy.
    Title: The association between plasma GPNMB and Parkinson's disease and multiple system atrophy.
  3. HOMER3 promotes liver hepatocellular carcinoma cancer progression by -upregulating EZH2 and mediating miR-361/GPNMB axis.
    Title: HOMER3 promotes liver hepatocellular carcinoma cancer progression by -upregulating EZH2 and mediating miR-361/GPNMB axis.
  4. Gpnmb silencing protects against hyperoxia-induced acute lung injury by inhibition of mitochondrial-mediated apoptosis.
    Title: Gpnmb silencing protects against hyperoxia-induced acute lung injury by inhibition of mitochondrial-mediated apoptosis.
  5. Glycoprotein Non-Metastatic Protein B (GPNMB): The Missing Link Between Lysosomes and Obesity.
    Title: Glycoprotein Non-Metastatic Protein B (GPNMB): The Missing Link Between Lysosomes and Obesity.
  6. Prognostic evaluation of oral squamous cell carcinoma based on pleiotrophin, urokinase plasminogen activator, and glycoprotein nonmetastatic melanoma protein B expression.
    Title: Prognostic evaluation of oral squamous cell carcinoma based on pleiotrophin, urokinase plasminogen activator, and glycoprotein nonmetastatic melanoma protein B expression.
  7. miR-532-3p suppresses proliferation and invasion of ovarian cancer cells via GPNMB/HIF-1alpha/HK2 axis.
    Title: miR-532-3p suppresses proliferation and invasion of ovarian cancer cells via GPNMB/HIF-1α/HK2 axis.
  8. GPNMB: a potent inducer of immunosuppression in cancer.
    Title: GPNMB: a potent inducer of immunosuppression in cancer.
  9. GPNMB-Positive Cells in Head and Neck Squamous Cell Carcinoma-Their Roles in Cancer Stemness, Therapy Resistance, and Metastasis.
    Title: GPNMB-Positive Cells in Head and Neck Squamous Cell Carcinoma-Their Roles in Cancer Stemness, Therapy Resistance, and Metastasis.
  10. GPNMB confers risk for Parkinson's disease through interaction with alpha-synuclein.
    Title: GPNMB confers risk for Parkinson's disease through interaction with α-synuclein.
Submit: New GeneRIF Correction See all GeneRIFs (105)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Amyloidosis, primary localized cutaneous, 3
MedGen: C4554421 OMIM: 617920 GeneReviews: Not available
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EBI GWAS Catalog

Description
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of transmembrane glycoprotein nmb (GPNMB) in peptide-treated PBMCs PubMed
Tat tat HIV-1 Tat downregulates the expression of glycoprotein nmb (GPNMB) in human primary T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables chemoattractant activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables heparin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables integrin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables receptor ligand activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables syndecan binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell-cell signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of G1/S transition of mitotic cell cycle IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of T cell activation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of T cell proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of cell population proliferation TAS
Traceable Author Statement
more info
 PubMed 
involved_in negative regulation of cytokine production IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of tumor necrosis factor production IEA
Inferred from Electronic Annotation
more info
  
involved_in positive chemotaxis NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of ERK1 and ERK2 cascade IC
Inferred by Curator
more info
 PubMed 
involved_in positive regulation of cell migration IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of protein autophosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of protein phosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of angiogenesis NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of tissue remodeling IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in signal transduction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in early endosome membrane IEA
Inferred from Electronic Annotation
more info
  
located_in melanosome membrane IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
transmembrane glycoprotein NMB
Names
glycoprotein (transmembrane) nmb
glycoprotein nmb-like protein
glycoprotein nonmetastatic melanoma protein B
hematopoietic growth factor inducible neurokinin-1 type
osteoactivin
transmembrane glycoprotein HGFIN

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001005340.2 → NP_001005340.1  transmembrane glycoprotein NMB isoform a precursor

    See identical proteins and their annotated locations for NP_001005340.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    BC025297, BC032783, BM750843, X76534
    Consensus CDS
    CCDS34610.1
    UniProtKB/Swiss-Prot
    A4D155, Q14956, Q6UVX1, Q8N1A1
    UniProtKB/TrEMBL
    A8K7R3, B2R5R1
    Related
    ENSP00000371420.2, ENST00000381990.6
    Conserved Domains (1) summary
    cd00146
    Location:256 → 319
    PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...

  2. NM_002510.3 → NP_002501.1  transmembrane glycoprotein NMB isoform b precursor

    See identical proteins and their annotated locations for NP_002501.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    BC011595, BC025297, BC032783, CD105306
    Consensus CDS
    CCDS5380.1
    UniProtKB/TrEMBL
    A8K7R3, B2R5R1
    Related
    ENSP00000258733.5, ENST00000258733.9
    Conserved Domains (1) summary
    cd00146
    Location:256 → 319
    PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    23246775..23275108
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249578.4 → XP_005249635.1  transmembrane glycoprotein NMB isoform X1

    UniProtKB/TrEMBL
    A8K7R3, B2R5R1
    Conserved Domains (1) summary
    cd00146
    Location:256 → 319
    PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...

  2. XM_017011678.3 → XP_016867167.1  transmembrane glycoprotein NMB isoform X2

    UniProtKB/TrEMBL
    A8K7R3, B2R5R1

  3. XM_047419776.1 → XP_047275732.1  transmembrane glycoprotein NMB isoform X3

    UniProtKB/Swiss-Prot
    A4D155, Q14956, Q6UVX1, Q8N1A1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    23383213..23411546
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054357088.1 → XP_054213063.1  transmembrane glycoprotein NMB isoform X1

  2. XM_054357089.1 → XP_054213064.1  transmembrane glycoprotein NMB isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14956.2 GenPept UniProtKB/Swiss-Prot:Q14956

Gene LinkOut

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