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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
  • Gene Overview
    MyGene.info: GPNMB
  • Alliance
  • Transcription Start Sites
    40 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:49036518-49058182 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 23.82 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    135 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1934765
protein coding gene Chr6:49036518-49070929 (.)
129S1/SvImJ MGP_129S1SvImJ_G0030719
protein coding gene Chr6:48019507-48056183 (+)
A/J MGP_AJ_G0030690
protein coding gene Chr6:45828574-45863572 (+)
AKR/J MGP_AKRJ_G0030615
protein coding gene Chr6:47441687-47480559 (+)
BALB/cJ MGP_BALBcJ_G0030700
protein coding gene Chr6:46167862-46202479 (+)
C3H/HeJ MGP_C3HHeJ_G0030413
protein coding gene Chr6:47441716-47481386 (+)
C57BL/6NJ MGP_C57BL6NJ_G0031155
protein coding gene Chr6:49150118-49188236 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028362
protein coding gene Chr6:43436984-43475833 (+)
CAST/EiJ MGP_CASTEiJ_G0029817
protein coding gene Chr6:47172572-47207502 (+)
CBA/J MGP_CBAJ_G0030388
protein coding gene Chr6:51183429-51226571 (+)
DBA/2J MGP_DBA2J_G0030537
protein coding gene Chr6:45740821-45776026 (+)
FVB/NJ MGP_FVBNJ_G0030489
protein coding gene Chr6:45378081-45418193 (+)
LP/J MGP_LPJ_G0030622
protein coding gene Chr6:48000622-48036976 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030523
protein coding gene Chr6:53958314-53992703 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031184
protein coding gene Chr6:47307141-47345025 (+)
PWK/PhJ MGP_PWKPhJ_G0029529
protein coding gene Chr6:45284720-45322071 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029365
protein coding gene Chr6:46654050-46689724 (+)
WSB/EiJ MGP_WSBEiJ_G0029894
protein coding gene Chr6:47308668-47344431 (+)



Homology
more
  • Human Ortholog
    GPNMB, glycoprotein nmb
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GPNMB, glycoprotein nmb
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HGFIN, NMB, PLCA3
  • Links
    NCBI Gene ID: 10457
    neXtProt AC: NX_Q14956
    UniProt: Q14956

  • Chr Location
    7p15.3; chr7:23246206-23275110 (+)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
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
    7 phenotypes from 3 alleles in 5 genetic backgrounds
    9 phenotypes from multigenic genotypes
    3 images
    44 phenotype references
Phenotype Overview

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

Click cells to view annotations.
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 53
      Genomic 4
      cDNA 49

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1336203, MGI:1933809
    References
    more
    • Summaries
      All 97
      Developmental Gene Expression 8
      Diseases 2
      Gene Ontology 9
      Phenotypes 44
    • 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:263258 Harun-Or-Rashid M, et al., Structural and Functional Rescue of Chronic Metabolically Stressed Optic Nerves through Respiration. J Neurosci. 2018 May 30;38(22):5122-5139

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory