AutismKB 2.0

Annotation Details for GPNMB


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Basic Information Top
Gene Symbol:GPNMB ( HGFIN,NMB )
Gene Full Name: glycoprotein (transmembrane) nmb
Band: 7p15.3
Quick LinksEntrez ID:10457; OMIM: 604368; Uniprot ID:GPNMB_HUMAN; ENSEMBL ID: ENSG00000136235; HGNC ID: 4462
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0005887IBA-integral component of plasma membrane-
GO:0016021IDA-integral component of membrane12609765
GO:0042470IEA-melanosome-
GO ID Evidence Qualifier GO_term References
GO:0005178IBA-integrin binding-
GO:0005515IPI-protein binding12609765
GO:0008201IDA-heparin binding19350579
GO:0042056NAS-chemoattractant activity20711474
GO:0045545IPI-syndecan binding19350579
GO:0048018IMP-receptor agonist activity19350579
GO ID Evidence Qualifier GO_term References
GO:0001649IEA-osteoblast differentiation-
GO:0001818IDA-negative regulation of cytokine production19350579
GO:0001934IDA-positive regulation of protein phosphorylation22891158
GO:0007155IEA-cell adhesion-
GO:0007165IMP-signal transduction19350579
GO:0007267IMP-cell-cell signaling19350579
GO:0008285TAS-negative regulation of cell proliferation7814155
GO:0030282IEA-bone mineralization-
GO:0030335IDA-positive regulation of cell migration20711474
GO:0031954IDA-positive regulation of protein autophosphorylation19350579
GO:0032720IEA-negative regulation of tumor necrosis factor production-
GO:0034103IDA-regulation of tissue remodeling25010402
GO:0042130IDA-negative regulation of T cell proliferation19350579
GO:0045765NAS-regulation of angiogenesis20711474
GO:0050868IMP-negative regulation of T cell activation19350579
GO:0050918NAS-positive chemotaxis20711474
GO:0070374IC-positive regulation of ERK1 and ERK2 cascade22891158
GO:1901215IGI-negative regulation of neuron death22891158
GO:2000134IDA-negative regulation of G1/S transition of mitotic cell cycle19350579
GO:2000273IEA-positive regulation of receptor activity-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1934765
  • Data Attributes: MGI curated and HomoloGene calculated
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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018