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Protein Coding Gene : Gpnmb glycoprotein (transmembrane) nmb

Primary Identifier  MGI:1934765 Organism  mouse, laboratory
Chromosome  6 NCBI Gene Number  93695
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables heparin binding activity and integrin binding activity. Involved in several processes, including negative regulation of tumor necrosis factor production; positive regulation of ERK1 and ERK2 cascade; and positive regulation of protein phosphorylation. Acts upstream of or within cell adhesion. Located in cytoplasmic vesicle and plasma membrane. Is expressed in several structures, including brain; eye; heart ventricle; hemolymphoid system; and mesenchyme derived from neural crest. Used to study pigment dispersion syndrome. Human ortholog(s) of this gene implicated in primary localized cutaneous amyloidosis 3. Orthologous to human GPNMB (glycoprotein nmb).
PHENOTYPE: 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. [provided by MGI curators]
  • synonyms:
  • dendritic cell associated heparan sulfate proteoglycans dependent integrin ligand,
  • MGI:1336203,
  • Osteoactivin,
  • Dchil,
  • glycoprotein (transmembrane) nmb,
  • DC-HIL,
  • iris pigment dispersion,
  • ipd,
  • MGI:1933809,
  • Gpnmb

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

0 Involved In Mutations

0 Strain

0 Transcripts

1 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

4 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

7 Driver For