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; chr6:35265595-35289548 (+)  GRCh37.p10

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	cytoplasm, membrane, ...
Function	phospholipid binding, 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 Type	Results
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 Model	OTTMUSG00000023387 (Evidence)
Ensembl Gene Model	ENSMUSG00000002257 (Evidence)
Entrez Gene	23853 (Evidence)
UniGene	204731
DFCI	TC1578800, TC1599603
DoTS	DT.490925
NIA Mouse Gene Index	U017742
Consensus CDS Project	CCDS28574.1
International Mouse Knockout Project Status	Def6

Sequences

Length	Strain/Species
genomic	OTTMUSG00000023387	VEGA Gene Model | MGI Sequence Detail	20831	C57BL/6J
transcript	OTTMUST00000056761	VEGA | MGI Sequence Detail	2277	Not Applicable
polypeptide	OTTMUSP00000027317	VEGA | MGI Sequence Detail	630	Not Applicable

All sequences(30) RefSeq(2) UniProt(1)

Polymorphisms

SNPs(73 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:190836 Feau S, et al., SLAT Regulates CD8+ T Cell Clonal Expansion in a Cdc42- and NFAT1-Dependent Manner. J Immunol. 2013 Jan 1;190(1):174-83
All references(47)

Other accession IDs

MGI:1916972, MGI:2147020, MGI:2444998