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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GPNMB Gene

protein-coding   GIFtS: 59
GCID: GC07P023252

Glycoprotein (Transmembrane) Nmb

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Glycoprotein (Transmembrane) Nmb1 2     HGFIN2 3
Glycoprotein NMB1 2     NMB2 3
Glycoprotein Nmb-Like Protein1 2     Transmembrane Glycoprotein1
osteoactivin1 2     Transmembrane Glycoprotein NMB2
Transmembrane Glycoprotein HGFIN2 3     

External Ids:    HGNC: 44621   Entrez Gene: 104572   Ensembl: ENSG000001362357   OMIM: 6043685   UniProtKB: Q149563   

Export aliases for GPNMB gene to outside databases

Previous GC identifers: GC07P022928 GC07P022994 GC07P023028 GC07P023059 GC07P023170


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 (transmembrane) nmb) is a protein-coding gene. Diseases associated with GPNMB include iris disease, and melanoma. GO annotations related to this gene include integrin binding and heparin binding. An important paralog of this gene is PMEL.

UniProtKB/Swiss-Prot: GPNMB_HUMAN, Q14956
Function: Could be a melanogenic enzyme (By similarity)

summary for GPNMB Gene:
Bombesin receptors are activated by the endogenous ligands gastrin-releasing peptide (GRP), neuromedin B
(NMB) and GRP18-27 (neuromedin C). Three subtypes of bombesin receptor are known: a GRP-preferring receptor
(BB1 receptor), a NMB-preferring receptor (BB2 receptor) and an orphan receptor (bb3 receptor). The
receptors are Gq/11-coupled and are involved in the regulation of many biological functions including
sensory transmission, thermoregulation, feeding, pituitary, gastric and pancreatic secretion. They may also
be involved in tissue development, proliferation and differentiation.

Gene Wiki entry for GPNMB Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007819.17  NC_018918.2  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GPNMB gene promoter:
         Bach1   ER-alpha   p53   ARP-1   AP-4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 9): GPNMB promoter sequence
   Search SABiosciences Chromatin IP Primers for GPNMB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GPNMB


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p15   Ensembl cytogenetic band:  7p15.3   HGNC cytogenetic band: 7p

GPNMB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GPNMB gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P023252:  view genomic region     (about GC identifiers)

Start:
23,275,586 bp from pter      End:
23,314,729 bp from pter
Size:
39,144 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 23,338,195-23,366,606     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GPNMB_HUMAN, Q14956 (See protein sequence)
Recommended Name: Transmembrane glycoprotein NMB precursor  
Size: 572 amino acids; 63923 Da
Subcellular location: Cell membrane; Single-pass type I membrane protein. Melanosome. Note=Identified by mass
spectrometry in melanosome fractions from stage I to stage IV. Detected at the cell surface in different types of
cancers cells, including glioblastoma multiforme cells and most melanoma cell lines
Secondary accessions: A4D155 Q6UVX1 Q8N1A1
Alternative splicing: 2 isoforms:  Q14956-1   Q14956-2   

Explore the universe of human proteins at neXtProt for GPNMB: NX_Q14956

Explore proteomics data for GPNMB at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14956

  • GPNMB Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GPNMB Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001005340.1  NP_002501.1  

    ENSEMBL proteins: 
     ENSP00000258733   ENSP00000371420   ENSP00000386476   ENSP00000445266   ENSP00000405586  

    Human Recombinant Protein Products for GPNMB: 
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    Novus Biologicals GPNMB Proteins
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    Sino Biological Recombinant Protein for GPNMB
    Sino Biological Cell Lysate for GPNMB 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GPNMB 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral to plasma membrane IEA--
    GO:0016021integral to membrane TAS7814155
    GO:0016023cytoplasmic membrane-bounded vesicle ----
    GO:0042470melanosome IEA--

    GPNMB for ontologies           About GeneDecksing



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    Assay Products for GPNMB: 
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    Cloud-Clone Corp. ELISAs for GPNMB 
    Cloud-Clone Corp. CLIAs for GPNMB


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR000601 PKD_dom
     IPR022409 PKD/Chitinase_dom

    Graphical View of Domain Structure for InterPro Entry Q14956

    ProtoNet protein and cluster: Q14956

    1 Blocks protein domain: IPB000601 PKD

    UniProtKB/Swiss-Prot: GPNMB_HUMAN, Q14956
    Similarity: Belongs to the PMEL/NMB family
    Similarity: Contains 1 PKD domain


    GPNMB for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GPNMB_HUMAN, Q14956
    Function: Could be a melanogenic enzyme (By similarity)

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005178integrin binding IEA--
    GO:0008201heparin binding IEA--
         
    GPNMB for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gpnmb):
     nervous system  pigmentation  vision/eye 

    GPNMB for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for GPNMB 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GPNMB

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GPNMB 
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate GPNMB:
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    SwitchGear 3'UTR luciferase reporter plasmidGPNMB 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): GPNMB (NM_002510)
    Sino Biological Human cDNA Clone for GPNMB
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                         Customized lentivirus expression plasmids for stable overexpression of GPNMB 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GPNMB


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GPNMB

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for GPNMB (Q149562, 3 ENSP000003714204) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD4Q134852, 3MINT-61971 I2D: score=3 
    PLA2G4AP477123, ENSP000003564364I2D: score=1 STRING: ENSP00000356436
    ITSN2ENSP000003472444STRING: ENSP00000347244
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001649osteoblast differentiation IEA--
    GO:0007155cell adhesion IEA--
    GO:0008285negative regulation of cell proliferation TAS7814155
    GO:0030282bone mineralization IEA--

    GPNMB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for GPNMB available from Tocris Bioscience    About this table
    CompoundAction CAS #
    BombesinInvolved in gastrointestinal tract function[31362-50-2]
    PD 176252GRP (BB2) and NMB (BB1) receptor antagonist[204067-01-6]
    GRP (human)Endogenous GRP receptor agonist[93755-85-2]
    GRP (porcine)Endogenous GRP receptor agonist[74815-57-9]
    Neuromedin B (porcine)Mammalian bombesin-like peptide[87096-84-2]

    Search CenterWatch for drugs/clinical trials and news about GPNMB

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GPNMB gene (2 alternative transcripts): 
    NM_001005340.1  NM_002510.2  

    Unigene Cluster for GPNMB:

    Glycoprotein (transmembrane) nmb
    Hs.190495  [show with all ESTs]
    Unigene Representative Sequence: BC032783
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000465673 ENST00000492858 ENST00000258733(uc003swb.3 uc011jyz.2)
    ENST00000381990(uc003swc.3 uc011jyy.2) ENST00000409458(uc003swa.2)
    ENST00000459927 ENST00000487890 ENST00000474157 ENST00000492512 ENST00000479625
    ENST00000470994 ENST00000463011 ENST00000478451 ENST00000468723 ENST00000539136
    ENST00000453162
    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate GPNMB:
    hsa-miR-3671 hsa-miR-607 hsa-miR-494
    SwitchGear 3'UTR luciferase reporter plasmidGPNMB 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for GPNMB
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GPNMB
    Clone
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    OriGene clones in human, mouse for GPNMB (see all 12)
    OriGene ORF clones in mouse, rat for GPNMB
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): GPNMB (NM_002510)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GPNMB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GPNMB
    Sirion Biotech Customized lentivirus for stable overexpression of GPNMB 
                         Customized lentivirus expression plasmids for stable overexpression of GPNMB 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GPNMB
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GPNMB

    Additional mRNA sequence: 

    AF322909.1 AJ505015.1 AK292078.1 AK296779.1 AK297031.1 AK297051.1 AK297055.1 AK297803.1 
    AK303071.1 AK304671.1 AK312279.1 AY359124.1 BC011595.1 BC025297.1 BC032783.1 BT007074.1 
    X76534.1 

    24/41 DOTS entries (see all 41):

    DT.447521  DT.101984417  DT.100770181  DT.100808120  DT.121095463  DT.100886002  DT.100886005  DT.121095465 
    DT.100885999  DT.100886006  DT.100038720  DT.121095475  DT.419207  DT.97847404  DT.121095449  DT.92416173 
    DT.95156153  DT.65284497  DT.100038718  DT.100038717  DT.91700495  DT.121095473  DT.121095504  DT.121095539 

    24/636 AceView cDNA sequences (see all 636):

    CB146360 BM716352 AI190803 AA937457 BE045329 AL542812 CR625459 AA360619 
    CR626032 BC011595 AA336390 BF149388 BU630385 AI281369 BE551378 W74703 
    BP358228 CB219815 CA417410 BQ894073 BI521316 BM710497 AI244328 CA429985 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for GPNMB (see all 13)    About this scheme

    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:                          -     -                                         -     -     -     -     -                                                         

    ExUns: 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b · 15c · 15d · 15e
    SP1:              -     -           -                           
    SP2:              -     -           -                           
    SP3:              -     -                                       
    SP4:                                                            
    SP5:                                                            


    ECgene alternative splicing isoforms for GPNMB

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GPNMB expression in normal human tissues (normalized intensities)      GPNMB embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACATTCTTTT
    GPNMB Expression
    About this image


    GPNMB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/28 selected tissues (see all 28) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             Zeugopod Periosteum
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
             Human Calvarial Osteoblasts (HCO)   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Atrioventricular Node Cells Atrioventricular Node
             Coronary Artery Smooth Muscle Cells (CASMC)   
             heart/ventricle   
     
     Smooth Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             Human Tracheal Smooth Muscle Cells (HTSMC)   
     
     Melanocytes (Integumentary System)    fully expand to see all 3 entries
             Human EpiDermal Melanocytes-medium (HEM-m)   
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Human Retinal Pigment Epithelial Cells (HRPEpiC)   

    See GPNMB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GPNMB

    SOURCE GeneReport for Unigene cluster: Hs.190495

    UniProtKB/Swiss-Prot: GPNMB_HUMAN, Q14956
    Tissue specificity: Up-regulated in various cancer cells, including in glioblastoma multiforme. Expressed in many
    melanoma cells, as well as 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). Hardly detectable in healthy brain

        SABiosciences Expression via Pathway-Focused PCR Arrays including GPNMB: 
              Nephrotoxicity in human mouse rat
              Tumor Metastasis in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GPNMB

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for GPNMB gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gpnmb1 , 5 glycoprotein (transmembrane) nmb1, 5 77.05(n)1
    71.68(a)1
      6 (23.82 cM)5
    936951  NM_053110.41  NP_444340.31 
     490365185 
    chicken
    (Gallus gallus)
    Aves GPNMB1 glycoprotein (transmembrane) nmb 62.29(n)
    54.01(a)
      428431  XM_425991.2  XP_425991.2 
    lizard
    (Anolis carolinensis)
    Reptilia GPNMB6
    glycoprotein (transmembrane) nmb
    51(a)
    1 ↔ 1
    6(30459487-30487867)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.69132 Xenopus laevis transcribed sequence with weak similarity more 72.52(n)    BU901029.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gpnmb1 glycoprotein (transmembrane) nmb 48.8(n)
    37.43(a)
      563348  XM_686712.5  XP_691804.2 


    ENSEMBL Gene Tree for GPNMB (if available)
    TreeFam Gene Tree for GPNMB (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GPNMB gene
    PMEL2  
    1 SIMAP similar gene for GPNMB using alignment to 5 protein entries:     GPNMB_HUMAN (see all proteins):
    PMEL

    GPNMB for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/830 SNPs in GPNMB are shown (see all 830)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0362634
    A breast cancer sample4--see VAR_0362632 S I mis40--------
    VAR_0362624
    A breast cancer sample4--see VAR_0362622 A D mis40--------
    rs749632071,2
    C,F--23284365(+) AGGGAA/GGGAAA 2 -- us2k12Minor allele frequency- G:0.03CSA WA 120
    rs1499081351,2
    --23284417(+) AAAACC/GAAGGT 2 -- us2k10--------
    rs69712441,2
    C,F,A,H--23284443(+) TTTAAC/AACTTC 2 -- us2k17Minor allele frequency- A:0.09NS EA CSA WA 660
    rs69712491,2
    C,F,H--23284464(+) AGAGAC/TGGGGT 2 -- us2k17Minor allele frequency- T:0.08NS EA CSA WA 658
    rs1477089341,2
    C--23284465(+) GAGACA/GGGGTG 2 -- us2k10--------
    rs1814499391,2
    --23284490(+) AAATAA/TGAGCC 2 -- us2k10--------
    rs1425409091,2
    --23284545(+) TAATAA/GTAGCT 2 -- us2k10--------
    rs1861348051,2
    --23284581(+) TTTTTA/TATTGT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for GPNMB (23275586 - 23314729 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for GPNMB:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv5661CNV Insertion18451855
    nsv887840CNV Loss21882294
    nsv520600CNV Loss19592680
    nsv7393OTHER Inversion18451855

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604368    OMIM disorders: --

    UniProtKB/Swiss-Prot: GPNMB_HUMAN, Q14956
  • Note=Glioblastoma multiforme patients that exhibit increased mRNA and protein levels (>3-fold over normal
    brain) in biopsy samples have a significantly higher risk of death (PubMed:16609006). In the context of cancer
    immunotherapy, including that of melanoma, has been proposed to be used as a cell surface protein antigen
    targeted by antibodies coupled to cytotoxic drugs (PubMed:16489096)

  • 11 diseases for GPNMB:    About MalaCards
    iris disease    melanoma    pancreatitis    glaucoma
    glioblastoma    retinitis    lung cancer    gastric cancer
    prostate cancer    breast cancer    prostatitis

    3 diseases from the University of Copenhagen DISEASES database for GPNMB:
    Glaucoma     Melanoma     Iris disease

    GPNMB for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for GPNMB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    metastatic melanoma 50.6 3 16489096 (1), 7814155 (1)
    melanoma 30.4 4 20056711 (2), 16489096 (1), 7814155 (1)
    tumors 5.81 6 17845721 (2), 15684612 (1), 20215530 (1), 7814155 (1)

    Genetic Association Database (GAD): GPNMB
    Human Genome Epidemiology (HuGE) Navigator: GPNMB (4 documents)

    Export disorders for GPNMB gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GPNMB gene, integrated from 9 sources (see all 48):
    (articles sorted by number of sources associating them with GPNMB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. NMB, a novel gene, is expressed in low-metastatic human melanoma cell lines and xenografts. (PubMed id 7814155)1, 2, 3, 9 Weterman M.A.J.... Bloemers H.P.J. (1995)
    2. Hematopoietic growth factor inducible neurokinin-1 type: a transmembrane protein that is similar to neurokinin 1 interacts with substance P. (PubMed id 12609765)1, 2, 9 Bandari P.S.... Rameshwar P. (2003)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. Sequential use of transcriptional profiling, expressi on quantitative trait mapping, and gene association implicates MMP20 in human k idney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (2009)
    5. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (2009)
    6. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (2006)
    7. Glycoprotein nonmetastatic melanoma protein B, a pote ntial molecular therapeutic target in patients with glioblastoma multiforme. (PubMed id 16609006)1, 2 Kuan C.T....Bigner D.D. (2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    10. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10457 HGNC: 4462 AceView: GPNMB Ensembl:ENSG00000136235 euGenes: HUgn10457
    ECgene: GPNMB H-InvDB: GPNMB

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GPNMB Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GPNMB Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GPNMB gene:
    Search GeneIP for patents involving GPNMB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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