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Def6 Gene Detail
Summary
  • Symbol
    Def6
  • Name
    differentially expressed in FDCP 6
  • Synonyms
    2410003F05Rik, 6430538D02Rik, IBP, IRF-4-binding protein, SLAT
  • Feature Type
    protein coding gene
  • IDs
    MGI:1346328
    NCBI Gene: 23853
  • Gene Overview
    MyGene.info: DEF6
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr17:28207778-28228608 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      20831 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 14.64 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    DEF6, DEF6, guanine nucleotide exchange factor
  • Vertebrate Orthologs
    9
  • Human Ortholog
    DEF6, DEF6, guanine nucleotide exchange factor
    Orthology source: HomoloGene, HGNC
  • Synonyms
    IBP, SLAT, SWAP70L
  • Links
    NCBI Gene ID: 50619
    neXtProt AC: NX_Q9H4E7
    UniProt: Q9H4E7

  • Chr Location
    6p21.31; chr6:35297818-35321771 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Def6 mouse models

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    15 phenotypes from 2 alleles in 2 genetic backgrounds
    21 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
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
neoplasm
vision/eye

Click cells to view annotations.
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
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000023387 VEGA Gene Model | MGI Sequence Detail 20831 C57BL/6J ±  kb
    transcript OTTMUST00000056761 VEGA | MGI Sequence Detail 2277 Not Applicable  
    polypeptide OTTMUSP00000027317 VEGA | MGI Sequence Detail 630 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      160 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • InterPro Domains
      IPR011992 EF-hand domain pair
      IPR011993 PH-like domain superfamily
      IPR001849 Pleckstrin homology domain
    Molecular
    Reagents
    less
    • All nucleic 32
      cDNA 32

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1916972, MGI:2147020, MGI:2444998
    References
    more
    • Summaries
      All 50
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 4
      Phenotypes 21
    • Earliest
      J:56735 Hotfilder M, et al., Def-2, -3, -6 and -8, novel mouse genes differentially expressed in the haemopoietic system. Br J Haematol. 1999 Aug;106(2):335-44
    • Latest
      J:247787 Binder N, et al., Def6 Restrains Osteoclastogenesis and Inflammatory Bone Resorption. J Immunol. 2017 May 01;198(9):3436-3447

    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
    06/12/2018
    MGI 6.12
    The Jackson Laboratory