About   Help   FAQ
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
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: HGNC, HomoloGene
  • Synonyms
    IBP, SLAT, SWAP70L
  • Links
    NCBI Gene ID: 50619
    neXtProt AC: NX_Q9H4E7

  • Chr Location
    6p21.33-p21.1; chr6:35297818-35321771 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Def6 mouse models

Human Disease Mouse Models
       Systemic Lupus Erythematosus; SLE   OMIM: 152700 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
less
  • Phenotype Summary
    13 phenotypes from 2 alleles in 3 genetic backgrounds
    19 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.
  • All Mutations and Alleles
    19
  • Gene trapped
    15
  • Targeted
    4
  • Incidental Mutations
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
less
  • 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
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
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
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 44
    Developmental Gene Expression 2
    Diseases 1
    Gene Ontology 4
    Phenotypes 19
  • 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:205441 Liang Y, et al., The lymphoid lineage-specific actin-uncapping protein Rltpr is essential for costimulation via CD28 and the development of regulatory T cells. Nat Immunol. 2013 Aug;14(8):858-66

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
06/22/2016
MGI 6.04
The Jackson Laboratory