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Gpnmb Gene Detail
Summary
  • Symbol
    Gpnmb
  • Name
    glycoprotein (transmembrane) nmb
  • Synonyms
    Dchil, DC-HIL, Osteoactivin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1934765
    NCBI Gene: 93695
Location & Maps
more
  • Sequence Map
    Chr6:49036518-49058182 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      21665 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    GPNMB, glycoprotein (transmembrane) nmb
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GPNMB, glycoprotein (transmembrane) nmb
    Orthology source: HGNC, HomoloGene
  • Synonyms
    HGFIN, NMB
  • Links
    NCBI Gene ID: 10457
    neXtProt AC: NX_Q14956

  • Chr Location
    7p15; chr7:23246686-23275110 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 1880
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: GPNMB
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Gpnmb mouse models

Human Disease Mouse Models
       Glaucoma-Related Pigment Dispersion Syndrome; GPDS1   OMIM: 600510 View 5 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 2 alleles in 4 genetic backgrounds
    9 phenotypes from multigenic genotypes
    3 images
    30 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    9
  • Gene trapped
    1
  • Spontaneous
    1
  • Targeted
    7
  • Incidental Mutations
Homozygous mutants exhibit dispersed pigmentation of the iris, deterioration of the posterior iris epithelium and slit-like transillumination defects. The mutation contributes to glaucoma, especially in combination with the brown coat color mutation.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 93695 NCBI Gene Model | MGI Sequence Detail 21665 C57BL/6J ±  kb
transcript NM_053110 RefSeq | MGI Sequence Detail 3798 C57BL/6  
polypeptide Q99P91 UniProt | EBI | MGI Sequence Detail 574 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    135 from dbSNP Build 137
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 52
    Genomic 4
    cDNA 48

    Microarray probesets 4
Other
Accession IDs
less
MGI:1336203, MGI:1933809
References
more
  • Summaries
    All 63
    Developmental Gene Expression 5
    Diseases 2
    Gene Ontology 4
    Phenotypes 30
  • Earliest
    J:54013 Chang B, et al., Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice. Nat Genet. 1999 Apr;21(4):405-9
  • Latest
    J:224654 Abdelmagid SM, et al., Mutation in Osteoactivin Promotes Receptor Activator of NFkappaB Ligand (RANKL)-mediated Osteoclast Differentiation and Survival but Inhibits Osteoclast Function. J Biol Chem. 2015 Aug 14;290(33):20128-46

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory