Def6 differentially expressed in FDCP 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Def6provided by MGI
Official Full Name: differentially expressed in FDCP 6provided by MGI
Primary source: MGI:MGI:1346328
See related: Ensembl:ENSMUSG00000002257 AllianceGenome:MGI:1346328
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ibp; Slat; Slat2; Slat6; 2410003F05Rik; 6430538D02Rik
Summary: Predicted to be involved in vesicle-mediated transport to the plasma membrane. Located in cell-cell junction. Is expressed in several structures, including heart; hemolymphoid system; lung; metanephros; and musculature. Used to study systemic lupus erythematosus. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Orthologous to human DEF6 (DEF6 guanine nucleotide exchange factor). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in thymus adult (RPKM 67.0), spleen adult (RPKM 23.0) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 A3.3; 17 14.64 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (28426752..28447582)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (28207456..28228608)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Def6 regulates endogenous type-I interferon responses in osteoblasts and suppresses osteogenesis.
Title: Def6 regulates endogenous type-I interferon responses in osteoblasts and suppresses osteogenesis.
Studies indicate that the autoimmune phenotype in DEF6 and SWAP-70 knock-out (DKO) mice is characterized by the accumulation of B cell subset that expresses high levels of CD11c and T-bet (ABCs).
Title: Regulation of systemic autoimmunity and CD11c(+) Tbet(+) B cells by SWEF proteins.
DEF6 and SWAP70 are SWEF proteins with important contributors to hematopoietic stem and precursor cells biology
Title: SWEF Proteins Distinctly Control Maintenance and Differentiation of Hematopoietic Stem Cells.
this study identifies Def6 as a novel inhibitor of osteoclastogenesis in physiological and inflammatory conditions
Title: Def6 Restrains Osteoclastogenesis and Inflammatory Bone Resorption.
These findings ascribe a new function to SLAT, and identify Rap1 as a target of SLAT function in TCR-mediated inside-out signaling.
Title: SLAT promotes TCR-mediated, Rap1-dependent LFA-1 activation and adhesion through interaction of its PH domain with Rap1.
SLAT is an IP3R1-interacting protein required for T cell activation.
Title: Association of the EF-hand and PH domains of the guanine nucleotide exchange factor SLAT with IP₃ receptor 1 promotes Ca²⁺ signaling in T cells.
PKClambda/iota was identified as an important factor for actin cytoskeletal regulation in podocytes and Def-6 as a specific downstream target of PKClambda/iota that regulates the activity of small GTPases and subsequently the actin cytoskeleton of podocytes.
Title: Def-6, a novel regulator of small GTPases in podocytes, acts downstream of atypical protein kinase C (aPKC) λ/ι.
Data suggest that SLAT acts as a negative modulator of RANKL-induced osteoclastogenesis.
Title: SLAT negatively regulates RANKL-induced osteoclast differentiation.
SLAT-mediated nuclear factor of activated T-cell (NFAT)1 activation is required for efficient expansion of CD8+ T cells during the primary response but is not necessary for cytotoxic T lymphocyte (CTL) differentiation.
Title: SLAT regulates CD8+ T cell clonal expansion in a Cdc42- and NFAT1-dependent manner.
SLAT/Def6 plays a major role in the T cell-mediated autoimmune processes that bring about the inflammatory eye disease, experimental autoimmune uveitis.
Title: SLAT/Def6 plays a critical role in the pathogenic process of experimental autoimmune uveitis (EAU).

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Gene trapped (1) 1 citation
Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:237609

D17Mit262 (e-PCR), detects polymorphism
- UniSTS:128073

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

AV094905 (e-PCR)
- UniSTS:180970

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in vesicle-mediated transport to the plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in vesicle-mediated transport to the plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in filopodium	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: differentially expressed in FDCP 6

Names: DEF-6; IRF-4-binding protein; IRF4-binding protein; SWAP-70-like adapter of T-cells

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.