Gene Gene information from NCBI Gene database.
Entrez ID 10457
Gene name Glycoprotein nmb
Gene symbol GPNMB
Synonyms (NCBI Gene)
HGFINNMBPLCA3
Chromosome 7
Chromosome location 7p15.3
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
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs140352180 C>A,T Pathogenic Synonymous variant, stop gained, coding sequence variant
rs747723062 TG>- Pathogenic Frameshift variant, coding sequence variant
rs763065333 T>- Pathogenic Coding sequence variant, frameshift variant
rs770211260 T>C,G Pathogenic Coding sequence variant, synonymous variant, stop gained
rs773435101 GTTT>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
210
miRTarBase ID miRNA Experiments Reference
MIRT030247 hsa-miR-26b-5p Microarray 19088304
MIRT731326 hsa-miR-508-5p Luciferase reporter assay 27003587
MIRT731326 hsa-miR-508-5p Luciferase reporter assay 27003587
MIRT2005502 hsa-miR-3649 CLIP-seq
MIRT2005503 hsa-miR-548aa CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
MITF Activation 18983539
TP53 Unknown 15684612
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0001818 Process Negative regulation of cytokine production IDA 19350579
GO:0005178 Function Integrin binding IBA
GO:0005178 Function Integrin binding IEA
GO:0005515 Function Protein binding IPI 12609765, 26751287
GO:0005768 Component Endosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604368 4462 ENSG00000136235
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14956
Protein name Transmembrane glycoprotein NMB (Hematopoietic growth factor inducible neurokinin-1 type)
Protein function Could be a melanogenic enzyme.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00801 PKD 270 321 PKD domain Domain
Tissue specificity 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) (PubMe
Sequence
MECLYYFLGFLLLAARLPLDAAKRFHDVLGNERPSAYMREHNQLNGWSSDENDWNEKLYP
VWKRGDMRWKNSWKGGRVQAVLTSDSPALVGSNITFAVNLIFPRCQKEDANGNIVYEKNC
RNEAGLSADPYVYNWTAWSEDSDGENGTGQSHHNVFPDGKPFPHHPGWRRWNFIYVFHTL
GQYFQKLGRCSVRVSVNTANVTLGPQLMEVTVYRRHGRAYVPIAQVKDVYVVTDQIPVFV
TMFQKNDRNSSDETFLKDLPIMFDVLIHDPSHFLNYSTINYKWSFGDNTGLFVSTNHTVN
HTYVLNGTFSLNLTVKAAAPG
PCPPPPPPPRPSKPTPSLATTLKSYDSNTPGPAGDNPLE
LSRIPDENCQINRYGHFQATITIVEGILEVNIIQMTDVLMPVPWPESSLIDFVVTCQGSI
PTEVCTIISDPTCEITQNTVCSPVDVDEMCLLTVRRTFNGSGTYCVNLTLGDDTSLALTS
TLISVPDRDPASPLRMANSALISVGCLAIFVTVISLLVYKKHKEYNPIENSPGNVVRSKG
LSVFLNRAKAVFFPGNQEKDPLLKNQEFKGVS
Sequence length 572
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    PTK6 promotes HIF1A stabilization
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
31
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amyloidosis, primary localized cutaneous, 3 Likely pathogenic; Pathogenic rs758729806, rs777204409, rs140352180, rs770211260, rs763065333, rs1554300664, rs747723062, rs773435101, rs547758286 RCV001782226
RCV003325298
RCV000591352
RCV000594391
RCV000597417
RCV000592008
RCV000594114
RCV000597606
RCV001263469
Familial cancer of breast Likely pathogenic rs371776692 RCV005932761
GPNMB-related disorder Likely pathogenic; Pathogenic rs758729806, rs371776692 RCV004752049
RCV003412177
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs34824876 RCV005905890
Clear cell carcinoma of kidney Benign rs34824876 RCV005905891
Ovarian serous cystadenocarcinoma - rs373987305 RCV006002682
Uterine corpus endometrial carcinoma Benign rs34824876 RCV005905892
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 23158542
Adenoma Stimulate 30400781
Adrenoleukodystrophy Stimulate 35568699
Alzheimer Disease Stimulate 35568699
Alzheimer Disease Associate 36504281, 39380021
Amyloidosis Associate 29336782
Amyotrophic Lateral Sclerosis Associate 33417599, 35568699
Arthritis Psoriatic Stimulate 26086874
Birt Hogg Dube Syndrome Associate 25594584
Bone Demineralization Pathologic Associate 19833906