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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
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:28426752-28447582 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 14.64 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    160 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1346328
 protein coding gene Chr17:28426752-28447582 (+)
129S1/SvImJ MGP_129S1SvImJ_G0023435
 protein coding gene Chr17:27576005-27601396 (+)
A/J MGP_AJ_G0023393
 protein coding gene Chr17:26690887-26711325 (+)
AKR/J MGP_AKRJ_G0023358
 protein coding gene Chr17:26871143-26897112 (+)
BALB/cJ MGP_BALBcJ_G0023398
 protein coding gene Chr17:26951425-26973254 (+)
C3H/HeJ MGP_C3HHeJ_G0023159
 protein coding gene Chr17:27247069-27271397 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023840
 protein coding gene Chr17:28691315-28722599 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021315
 protein coding gene Chr17:24061598-24082050 (+)
CAST/EiJ MGP_CASTEiJ_G0022660
 protein coding gene Chr17:27229803-27256383 (+)
CBA/J MGP_CBAJ_G0023133
 protein coding gene Chr17:29706220-29740006 (+)
DBA/2J MGP_DBA2J_G0023264
 protein coding gene Chr17:26242386-26263128 (+)
FVB/NJ MGP_FVBNJ_G0023234
 protein coding gene Chr17:26040820-26063827 (+)
LP/J MGP_LPJ_G0023342
 protein coding gene Chr17:27830814-27857746 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023252
 protein coding gene Chr17:29153567-29179939 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023882
 protein coding gene Chr17:27287793-27315314 (+)
PWK/PhJ MGP_PWKPhJ_G0022410
 protein coding gene Chr17:25045646-25067450 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022228
 protein coding gene Chr17:25296978-25324732 (+)
WSB/EiJ MGP_WSBEiJ_G0022722
 protein coding gene Chr17:27285512-27311279 (+)



Homology
more
  • Human Ortholog
    DEF6, DEF6 guanine nucleotide exchange factor
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DEF6, DEF6 guanine nucleotide exchange factor
  • Synonyms
    IBP, IMD87, SLAT, SWAP70L
  • Links
    NCBI Gene ID: 50619
    neXtProt AC: NX_Q9H4E7
    UniProt: Q9H4E7

  • Chr Location
    6p21.31; chr6:35297818-35321771 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Def6 mouse models; 1 with human DEF6 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
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
    11 phenotypes from 1 allele in 1 genetic background
    30 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
less
  • All GO Annotations
    13
  • GO References
    6
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    722
  • Tissues
    13
  • cDNA Data
    33
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 23853 NCBI Gene Model | MGI Sequence Detail 20831 C57BL/6J ±  kb
    transcript NM_027185 RefSeq | MGI Sequence Detail 2294 C57BL/6  
    polypeptide Q8C2K1 UniProt | EBI | MGI Sequence Detail 630 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 35
      cDNA 35

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1916972, MGI:2147020, MGI:2444998
    References
    more
    • Summaries
      All 61
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 6
      Phenotypes 30
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory