Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10457
Gene name Gene Name - the full gene name approved by the HGNC.
Glycoprotein nmb
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GPNMB
Synonyms (NCBI Gene) Gene synonyms aliases
HGFIN, NMB, PLCA3
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p15.3
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
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.
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 factor Regulation Reference
MITF Activation 18983539
TP53 Unknown 15684612
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604368 4462 ENSG00000136235
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Amyloidosis amyloidosis, primary localized cutaneous, 3 rs770211260, rs763065333, rs1554300664, rs747723062, rs773435101, rs140352180 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Endometriosis Endometriosis N/A N/A GWAS
Parkinson Disease Parkinson's disease N/A N/A GWAS
Associations from Text Mining Disease 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