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    GPNMB glycoprotein nmb [ Homo sapiens (human) ]

    Gene ID: 10457, updated on 28-Oct-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (23246775..23275108)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (23383213..23411546)
    RS_2024_09 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 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/osteoactivin: an indicator and therapeutic target in tumor and nontumorous lesions. Zhuo H, et al. Pharmazie, 2016 Oct 1. PMID 29441921
    2. MAPK Pathway Inhibitors Sensitize BRAF-Mutant Melanoma to an Antibody-Drug Conjugate Targeting GPNMB. Rose AA, et al. Clin Cancer Res, 2016 Dec 15. PMID 27515299, Free PMC Article
    3. Glycoprotein non-metastatic melanoma protein B (GPNMB): An attractive target in atherosclerosis. Yu X, et al. Biochem Biophys Res Commun, 2024 Nov 5. PMID 39024681
    4. Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease. Murugesan V, et al. Blood Cells Mol Dis, 2018 Feb. PMID 28003098, Free PMC Article
    5. GPNMB promotes proliferation of developing eosinophils. Hwang SM, et al. J Biochem, 2017 Aug 1. PMID 28104809

    See all (139) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Glycoprotein non-metastatic melanoma protein B (GPNMB): An attractive target in atherosclerosis.
      Title: Glycoprotein non-metastatic melanoma protein B (GPNMB): An attractive target in atherosclerosis.
    2. The E3 ubiquitin-protein ligase UHRF1 promotes adipogenesis and limits fibrosis by suppressing GPNMB-mediated TGF-beta signaling.
      Title: The E3 ubiquitin-protein ligase UHRF1 promotes adipogenesis and limits fibrosis by suppressing GPNMB-mediated TGF-β signaling.
    3. Glycoprotein non-metastatic melanoma protein B promotes tumor growth and is a biomarker for lymphangioleiomyomatosis.
      Title: Glycoprotein non-metastatic melanoma protein B promotes tumor growth and is a biomarker for lymphangioleiomyomatosis.
    4. Glycoprotein nonmetastatic melanoma protein B impacts the malignant potential of bladder cancer cells through its hem-immunoreceptor tyrosine-based activation motif.
      Title: Glycoprotein nonmetastatic melanoma protein B impacts the malignant potential of bladder cancer cells through its hem-immunoreceptor tyrosine-based activation motif.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (109)

    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
    		Compare labs

    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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    NEW Try the new Transcript table

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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