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. ... See more...

Aliases for GPNMB Gene

Aliases for GPNMB Gene

  • Glycoprotein Nmb 2 3 5
  • HGFIN 2 3 4
  • NMB 2 3 4
  • Hematopoietic Growth Factor Inducible Neurokinin-1 Type 3 4
  • Hematopoietic Growth Factor Inducible Neurokinin-1 2 3
  • Glycoprotein Nonmetastatic Melanoma Protein B 2 3
  • Glycoprotein (Transmembrane) Nmb 2 3
  • Transmembrane Glycoprotein NMB 3 4
  • Glycoprotein Nmb-Like Protein 2 3
  • Osteoactivin 2 3
  • Transmembrane Glycoprotein HGFIN 3
  • Transmembrane Glycoprotein 2
  • Glycoprotein NMB 2
  • PLCA3 3
  • GPNMB 5

External Ids for GPNMB Gene

Previous GeneCards Identifiers for GPNMB Gene

  • GC07P022928
  • GC07P022994
  • GC07P023028
  • GC07P023059
  • GC07P023252
  • GC07P023170

Summaries for GPNMB Gene

Entrez Gene Summary for GPNMB Gene

  • 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]

GeneCards Summary for GPNMB Gene

GPNMB (Glycoprotein Nmb) is a Protein Coding gene. Diseases associated with GPNMB include Amyloidosis, Primary Localized Cutaneous, 3 and Lichen Amyloidosis. Among its related pathways are Signaling by PTK6 and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include heparin binding and integrin binding. An important paralog of this gene is PMEL.

UniProtKB/Swiss-Prot Summary for GPNMB Gene

Gene Wiki entry for GPNMB Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GPNMB Gene

Genomics for GPNMB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GPNMB Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GPNMB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GPNMB

Top Transcription factor binding sites by QIAGEN in the GPNMB gene promoter:
  • AP-4
  • ARP-1
  • Bach1
  • ER-alpha
  • p53

Genomic Locations for GPNMB Gene

Genomic Locations for GPNMB Gene
chr7:23,235,967-23,275,110
(GRCh38/hg38)
Size:
39,144 bases
Orientation:
Plus strand
chr7:23,275,586-23,314,729
(GRCh37/hg19)
Size:
39,144 bases
Orientation:
Plus strand

Genomic View for GPNMB Gene

Genes around GPNMB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPNMB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPNMB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPNMB Gene

Proteins for GPNMB Gene

  • Protein details for GPNMB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14956-GPNMB_HUMAN
    Recommended name:
    Transmembrane glycoprotein NMB
    Protein Accession:
    Q14956
    Secondary Accessions:
    • A4D155
    • Q6UVX1
    • Q8N1A1

    Protein attributes for GPNMB Gene

    Size:
    572 amino acids
    Molecular mass:
    63923 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GPNMB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GPNMB Gene

Post-translational modifications for GPNMB Gene

  • Glycosylation at Asn93, Asn134, Asn146, Asn200, Asn249, Asn275, Asn296, Asn300, Asn306, Asn312, Asn459, and Asn467
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • GPNMB_HUMAN (1847)

Antibody Products

  • Abcam antibodies for GPNMB
  • Boster Bio Antibodies for GPNMB

No data available for DME Specific Peptides for GPNMB Gene

Domains & Families for GPNMB Gene

Gene Families for GPNMB Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for GPNMB Gene

InterPro:
Blocks:
  • PKD
ProtoNet:

Suggested Antigen Peptide Sequences for GPNMB Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59335, highly similar to Transmembrane glycoprotein NMB (B4DLL8_HUMAN)
  • cDNA FLJ58556, highly similar to Transmembrane glycoprotein NMB (B4DZS5_HUMAN)
  • Transmembrane glycoprotein HGFIN (GPNMB_HUMAN)
  • Glycoprotein nmb-like protein (Q8IXJ5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14956

UniProtKB/Swiss-Prot:

GPNMB_HUMAN :
  • Belongs to the PMEL/NMB family.
Family:
  • Belongs to the PMEL/NMB family.
genes like me logo Genes that share domains with GPNMB: view

Function for GPNMB Gene

Molecular function for GPNMB Gene

UniProtKB/Swiss-Prot Function:
Could be a melanogenic enzyme.
UniProtKB/Swiss-Prot Induction:
Up-regulated by G-CSF/CSF3 and M-CSF/CSF1 in bone marrow mononuclear cells, hence up-regulation may be linked to differentiation.

Phenotypes From GWAS Catalog for GPNMB Gene

Gene Ontology (GO) - Molecular Function for GPNMB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding IEA,IBA 21873635
GO:0005515 protein binding IPI 12609765
GO:0008201 heparin binding IDA 19350579
GO:0042056 chemoattractant activity NAS 20711474
GO:0045545 syndecan binding IPI 19350579
genes like me logo Genes that share ontologies with GPNMB: view
genes like me logo Genes that share phenotypes with GPNMB: view

Human Phenotype Ontology for GPNMB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GPNMB Gene

MGI Knock Outs for GPNMB:
  • Gpnmb Gpnmb<tm1Ari>
  • Gpnmb Gpnmb<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

miRNA for GPNMB Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPNMB

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GPNMB Gene

Localization for GPNMB Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPNMB Gene

Cell membrane. Single-pass type I membrane protein. Melanosome membrane. Single-pass type I membrane protein. Early endosome membrane. Single-pass type I membrane protein. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269 PubMed:17081065}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GPNMB gene
Compartment Confidence
plasma membrane 5
endosome 4
extracellular 3
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
lysosome 2
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GPNMB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA,IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IDA 12609765
genes like me logo Genes that share ontologies with GPNMB: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GPNMB Gene

Pathways & Interactions for GPNMB Gene

PathCards logo

SuperPathways for GPNMB Gene

genes like me logo Genes that share pathways with GPNMB: view

Pathways by source for GPNMB Gene

1 Cell Signaling Technology pathway for GPNMB Gene

Gene Ontology (GO) - Biological Process for GPNMB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation IEA --
GO:0001818 negative regulation of cytokine production IDA 19350579
GO:0001934 positive regulation of protein phosphorylation IEA,IDA 22891158
GO:0007155 cell adhesion IEA,IBA 21873635
GO:0007165 signal transduction IMP 19350579
genes like me logo Genes that share ontologies with GPNMB: view

No data available for SIGNOR curated interactions for GPNMB Gene

Drugs & Compounds for GPNMB Gene

(17) Drugs for GPNMB Gene - From: DrugBank, ClinicalTrials, and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Capecitabine Approved, Investigational Pharma RNA processing inhibitor and thymidylate synthase inhibitor, F-pyrimidines 1669
Docetaxel Approved, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 2330
Doxorubicin Approved, Investigational Pharma Topo II inhibitor,immunosuppresive antineoplastic antibiotic 2029
Gemcitabine Approved Pharma Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 2451
nivolumab Approved Pharma Therapeutic Antibodies, Immunotherapies 1165
genes like me logo Genes that share compounds with GPNMB: view

Transcripts for GPNMB Gene

mRNA/cDNA for GPNMB Gene

2 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPNMB

Alternative Splicing Database (ASD) splice patterns (SP) for GPNMB Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c · 10d ^
SP1: - - - - -
SP2: - - - -
SP3: -
SP4: - - - - - - - - -
SP5: - - - - - - -
SP6: - -
SP7:
SP8: - - - - - - - -
SP9: - - - - -
SP10: - - - -
SP11:
SP12:
SP13:

ExUns: 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b · 15c · 15d · 15e
SP1: - - -
SP2: - - -
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13: -

Relevant External Links for GPNMB Gene

GeneLoc Exon Structure for
GPNMB

Expression for GPNMB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GPNMB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GPNMB Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x4.4).

Protein differential expression in normal tissues from HIPED for GPNMB Gene

This gene is overexpressed in Hair follicle (20.1), Nasal epithelium (13.2), and Amniocyte (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GPNMB Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GPNMB

SOURCE GeneReport for Unigene cluster for GPNMB Gene:

Hs.190495

mRNA Expression by UniProt/SwissProt for GPNMB Gene:

Q14956-GPNMB_HUMAN
Tissue specificity: Widely expressed, but very low expression, if any, in the brain (PubMed:12609765, PubMed:16609006). Expressed in the epidermis with higher levels in melanocytes compared with keratinocytes and Langerhans cells (at protein level) (PubMed:29336782). Expressed in peripheral blood, but not bone marrow mononuclear cells (PubMed:12609765). Expressed in tissue macrophages, including liver Kuppfer cells and lung alveolar macrophages, in podocytes and in some cells of the ciliary body of the eye (at protein level) (PubMed:16489096). May be overexpressed in various cancers, including melanoma and glioblastoma multiforme (PubMed:7814155, PubMed:16489096, PubMed:16609006).

Evidence on tissue expression from TISSUES for GPNMB Gene

  • Blood(5)
  • Nervous system(5)
  • Skin(4.6)
  • Liver(4.5)
  • Heart(4.1)
  • Lung(3.8)
  • Intestine(3.8)
  • Eye(3.3)
  • Kidney(3.2)
  • Muscle(3.1)
  • Lymph node(3.1)
  • Spleen(2.8)
  • Pancreas(2.8)
  • Bone(2.5)
  • Gall bladder(2.3)
genes like me logo Genes that share expression patterns with GPNMB: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for GPNMB Gene

Orthologs for GPNMB Gene

This gene was present in the common ancestor of chordates.

Orthologs for GPNMB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GPNMB 30 31
  • 99.42 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GPNMB 30 31
  • 85.31 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GPNMB 30 31
  • 82.97 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gpnmb 30 17 31
  • 76.85 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gpnmb 30
  • 76.55 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia GPNMB 31
  • 60 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GPNMB 31
  • 60 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GPNMB 30 31
  • 61.92 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GPNMB 31
  • 50 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gpnmb 30
  • 59.8 (n)
Str.6500 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.6913 30
Zebrafish
(Danio rerio)
Actinopterygii gpnmb 30 31
  • 48.8 (n)
OneToOne
Species where no ortholog for GPNMB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for GPNMB Gene

ENSEMBL:
Gene Tree for GPNMB (if available)
TreeFam:
Gene Tree for GPNMB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GPNMB: view image

Paralogs for GPNMB Gene

Paralogs for GPNMB Gene

(1) SIMAP similar genes for GPNMB Gene using alignment to 5 proteins:

  • GPNMB_HUMAN
  • F5GY20_HUMAN
  • F6SKP1_HUMAN
  • Q8IXJ5_HUMAN
  • Q96F58_HUMAN
genes like me logo Genes that share paralogs with GPNMB: view

Variants for GPNMB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GPNMB Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
712644 Benign: not provided 23,274,188(+) G/A SYNONYMOUS_VARIANT
714769 Benign: not provided 23,274,126(+) C/T SYNONYMOUS_VARIANT
715719 Likely Benign: not provided 23,246,910(+) C/T MISSENSE_VARIANT
716877 Benign: not provided 23,270,045(+) T/G MISSENSE_VARIANT
718620 Benign: not provided 23,246,890(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for GPNMB Gene

Structural Variations from Database of Genomic Variants (DGV) for GPNMB Gene

Variant ID Type Subtype PubMed ID
esv3612541 CNV gain 21293372
nsv1016316 CNV gain 25217958
nsv1027363 CNV gain 25217958
nsv520600 CNV loss 19592680
nsv5661 CNV insertion 18451855
nsv7393 OTHER inversion 18451855

Variation tolerance for GPNMB Gene

Residual Variation Intolerance Score: 87.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.36; 63.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GPNMB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPNMB

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPNMB Gene

Disorders for GPNMB Gene

MalaCards: The human disease database

(13) MalaCards diseases for GPNMB Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GPNMB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GPNMB_HUMAN
  • Note=Increased expression levels in glioblastoma multiforme biopsy samples correlate with poor patient survival prognosis (PubMed:16609006). Has been proposed as a potential target for antibodies coupled to cytotoxic drugs in the context of cancer immunotherapy, including that of melanoma (PubMed:16489096). {ECO:0000269 PubMed:16489096, ECO:0000269 PubMed:16609006}.
  • Amyloidosis, primary localized cutaneous, 3 (PLCA3) [MIM:617920]: A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins. PLCA3 inheritance is autosomal recessive. {ECO:0000269 PubMed:29336782}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GPNMB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with GPNMB: view

No data available for Genatlas for GPNMB Gene

Publications for GPNMB Gene

  1. nmb, a novel gene, is expressed in low-metastatic human melanoma cell lines and xenografts. (PMID: 7814155) Weterman MA … Bloemers HP (International journal of cancer 1995) 2 3 4 23
  2. Hematopoietic growth factor inducible neurokinin-1 type: a transmembrane protein that is similar to neurokinin 1 interacts with substance P. (PMID: 12609765) Bandari PS … Rameshwar P (Regulatory peptides 2003) 3 4 23
  3. Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans. (PMID: 29336782) Yang CF … Wu JY (American journal of human genetics 2018) 3 4
  4. Glycoprotein nonmetastatic melanoma protein b, a melanocytic cell marker, is a melanosome-specific and proteolytically released protein. (PMID: 20056711) Hoashi T … Hearing VJ (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2010) 3 23
  5. Glycoprotein nonmetastatic B is an independent prognostic indicator of recurrence and a novel therapeutic target in breast cancer. (PMID: 20215530) Rose AA … Siegel PM (Clinical cancer research : an official journal of the American Association for Cancer Research 2010) 3 23

Products for GPNMB Gene

Sources for GPNMB Gene