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Def6
Gene Detail
 Symbol
Name
ID
Def6
differentially expressed in FDCP 6
MGI:1346328
Synonyms 2410003F05Rik, 6430538D02Rik, IBP, IRF-4-binding protein, SLAT
Feature Type protein coding gene
Genetic Map
Chromosome 17
14.64 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr17:28207778-28228608 bp, + strand
From VEGA annotation of GRCm38

  20831 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:11103  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Def6

Human
homologs
Human Homolog DEF6, differentially expressed in FDCP 6 homolog (mouse)
NCBI Gene ID 50619
neXtProt AC  NX_Q9H4E7
Human Synonyms  IBP, SLAT, SWAP70L
Human Chr (Location)  6p21.33-p21.1; chr6:35297818-35321771 (+)  GRCh38
Alleles
and
phenotypes
All alleles(19) : Targeted(4) Gene trapped(15)
 
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
 
Human Diseases Modeled Using Mouse Def6 (1)    Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (6 annotations)
Component cell-cell junction, cytoplasm, ...
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (16)    Tissues (13)    Images (4)
Theiler Stages: 10, 18, 23, 25, 28
Assay TypeResults
RNA in situ 4
Northern blot 12
cDNA source data(30)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(32) cDNA(32)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000023387 (Evidence)
Ensembl Gene ModelENSMUSG00000002257 (Evidence)
Entrez Gene23853 (Evidence)
UniGene204731
DFCITC1578800, TC1599603
DoTSDT.490925
NIA Mouse Gene IndexU017742
Consensus CDS ProjectCCDS28574.1
International Mouse Knockout Project StatusDef6
Sequences
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 sequences
All sequences(30) RefSeq(2) UniProt(1)
Polymorphisms SNPs within 2kb(161 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001849 Pleckstrin homology domain
InterPro IPR011993 Pleckstrin homology-like domain
Protein Ontology PR:000006378 differentially expressed in FDCP 6
References (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
All references(47)
Other
accession IDs
MGI:1916972, MGI:2147020, MGI:2444998

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory