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Protein Coding Gene : Def6 differentially expressed in FDCP 6
Primary Identifier  MGI:1346328 Organism  mouse, laboratory
Chromosome  17 NCBI Gene Number  23853
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Predicted to be involved in vesicle-mediated transport to the plasma membrane. Located in cell-cell junction. Is expressed in several structures, including heart; hemolymphoid system; lung; metanephros; and musculature. Used to study systemic lupus erythematosus. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Orthologous to human DEF6 (DEF6 guanine nucleotide exchange factor).
PHENOTYPE: Homozygous mutants spontaneously develop systemic autoimmunity. Females primarily are affected, displaying hypergammaglobulinemia, accumulation of effector/memory T cells and IgG+ B cells, and production of autoantibodies. [provided by MGI curators]
  • synonyms:
  • SLAT,
  • differentially expressed in FDCP 6,
  • MGI:1916972,
  • AV094905,
  • RIKEN cDNA 2410003F05 gene,
  • expressed sequence AV094905,
  • 2410003F05Rik,
  • IRF-4-binding protein,
  • MGI:2444998,
  • IBP,
  • MGI:2147020,
  • Def6,
  • 6430538D02Rik,
  • RIKEN cDNA 6430538D02 gene
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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

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Canonical gene --> Transcripts in specific strains.

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Trail: ProteinCodingGene

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Gene --> Protein-Protein Interactions

Expression

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Phenotype

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Disease

Mouse features --> Human diseases

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