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Aliases for DEF6 Gene

Aliases for DEF6 Gene

  • DEF6, Guanine Nucleotide Exchange Factor 2 3 5
  • SWAP-70-Like Adaptor Protein Of T Cells 2 3
  • IRF4-Binding Protein 3 4
  • DEF-6 3 4
  • IBP 3 4
  • Differentially Expressed In FDCP (Mouse Homolog) 6 2
  • Differentially Expressed In FDCP 6 Homolog (Mouse) 2
  • Differentially Expressed In FDCP 6 Homolog 3
  • SWAP70L 3
  • SLAT 3

External Ids for DEF6 Gene

Previous GeneCards Identifiers for DEF6 Gene

  • GC06P035267
  • GC06P035313
  • GC06P035314
  • GC06P035373
  • GC06P034986
  • GC06P035265
  • GC06P035426
  • GC06P035531
  • GC06P037759
  • GC06P038383

Summaries for DEF6 Gene

Entrez Gene Summary for DEF6 Gene

  • DEF6, or IBP, is a guanine nucleotide exchange factor (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is highly expressed in B and T cells (Gupta et al., 2003 [PubMed 12923183]).[supplied by OMIM, Mar 2008]

GeneCards Summary for DEF6 Gene

DEF6 (DEF6, Guanine Nucleotide Exchange Factor) is a Protein Coding gene. Among its related pathways are G-protein signaling_Regulation of CDC42 activity and Regulation of RhoA activity. An important paralog of this gene is SWAP70.

UniProtKB/Swiss-Prot for DEF6 Gene

  • Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which plays a role in the activation of Rho GTPases RAC1, RhoA and CDC42. Can regulate cell morphology in cooperation with activated RAC1. Plays a role in Th2 (T helper cells) development and/or activation, perhaps by interfering with ZAP70 signaling (By similarity).

Gene Wiki entry for DEF6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEF6 Gene

Genomics for DEF6 Gene

Regulatory Elements for DEF6 Gene

Enhancers for DEF6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F035309 1.3 FANTOM5 Ensembl ENCODE 43.9 +13.4 13427 4.1 PKNOX1 FEZF1 ZBTB40 ZNF366 POLR2A ETV6 PRDM10 ZNF263 NR2F1 ZEB2 DEF6 ZNF76 TAF11 RPL10A FKBP5 PPARD
GH06F035296 1.5 FANTOM5 ENCODE 26.4 +3.6 3575 8.8 HDGF PKNOX1 CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 SLC30A9 CBX5 DEF6 ENSG00000219023 ZNF76 RPL10A RPS10 TAF11 PPARD ANKS1A
GH06F035258 1.6 FANTOM5 ENCODE 20.7 -37.6 -37620 4.1 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZNF610 DEF6 ENSG00000219023 FANCE ZNF76 RPS10 TCP11 SNRPC RPL10A ENSG00000237719 PPARD
GH06F035483 2.3 VISTA FANTOM5 Ensembl ENCODE 12.9 +194.7 194744 18.1 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC ENSG00000272374 TEAD3 RPS10P13 RN7SL502P ENSG00000228559 DEF6 PPARD TAF11 TULP1 UHRF1BP1
GH06F035327 1.1 Ensembl ENCODE 20.4 +29.9 29901 1.3 HDGF CBX3 WRNIP1 ARID4B ZNF48 RAD21 ZNF366 SCRT2 ZNF143 ZNF207 DEF6 ZNF76 PPARD
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DEF6 on UCSC Golden Path with GeneCards custom track

Promoters for DEF6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001215143 682 1401 HDGF PKNOX1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 SLC30A9 CBX5 ZNF143

Genomic Location for DEF6 Gene

Chromosome:
6
Start:
35,297,818 bp from pter
End:
35,321,771 bp from pter
Size:
23,954 bases
Orientation:
Plus strand

Genomic View for DEF6 Gene

Genes around DEF6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEF6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEF6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEF6 Gene

Proteins for DEF6 Gene

  • Protein details for DEF6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H4E7-DEFI6_HUMAN
    Recommended name:
    Differentially expressed in FDCP 6 homolog
    Protein Accession:
    Q9H4E7
    Secondary Accessions:
    • Q86VF4

    Protein attributes for DEF6 Gene

    Size:
    631 amino acids
    Molecular mass:
    73910 Da
    Quaternary structure:
    • Interacts with ZAP70 (By similarity). Interacts with IRF4, activated RAC1 and F-actin. Both the phosphorylated and non-phosphorylated forms bind phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3).

neXtProt entry for DEF6 Gene

Post-translational modifications for DEF6 Gene

  • Tyrosine-phosphorylated by tyrosine-protein kinase LCK in response to T-cell activation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DEF6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEF6 Gene

Domains & Families for DEF6 Gene

Gene Families for DEF6 Gene

Protein Domains for DEF6 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H4E7

UniProtKB/Swiss-Prot:

DEFI6_HUMAN :
  • The PH domain is essential for phosphatidylinositol 3,4,5-trisphosphate binding.
Domain:
  • The PH domain is essential for phosphatidylinositol 3,4,5-trisphosphate binding.
  • Contains 1 PH domain.
genes like me logo Genes that share domains with DEF6: view

Function for DEF6 Gene

Molecular function for DEF6 Gene

UniProtKB/Swiss-Prot Function:
Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which plays a role in the activation of Rho GTPases RAC1, RhoA and CDC42. Can regulate cell morphology in cooperation with activated RAC1. Plays a role in Th2 (T helper cells) development and/or activation, perhaps by interfering with ZAP70 signaling (By similarity).

Gene Ontology (GO) - Molecular Function for DEF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with DEF6: view
genes like me logo Genes that share phenotypes with DEF6: view

Animal Models for DEF6 Gene

MGI Knock Outs for DEF6:
  • Def6 tm1a(EUCOMM)Wtsi

Animal Model Products

  • Taconic Biosciences Mouse Models for DEF6

miRNA for DEF6 Gene

miRTarBase miRNAs that target DEF6

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DEF6 Gene

Localization for DEF6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEF6 Gene

Cytoplasm. Cell membrane. Nucleus. Cytoplasm, cytoskeleton. Cytoplasm, perinuclear region. Cell projection, filopodium. Note=Recruited to the plasma membrane upon binding phosphatidylinositol 3,4,5-trisphosphate (PubMed:15023524). Binds to actin filaments (PubMed:15023524). {ECO:0000269 PubMed:15023524}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DEF6 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 3
cytoskeleton 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for DEF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA,IDA 19946888
genes like me logo Genes that share ontologies with DEF6: view

Pathways & Interactions for DEF6 Gene

genes like me logo Genes that share pathways with DEF6: view

Pathways by source for DEF6 Gene

Gene Ontology (GO) - Biological Process for DEF6 Gene

None

No data available for SIGNOR curated interactions for DEF6 Gene

Drugs & Compounds for DEF6 Gene

(3) Drugs for DEF6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with DEF6: view

Transcripts for DEF6 Gene

mRNA/cDNA for DEF6 Gene

Unigene Clusters for DEF6 Gene

Differentially expressed in FDCP 6 homolog (mouse):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DEF6 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - - -
SP2: - - - - - -
SP3: - -
SP4:
SP5: -
SP6: - - - - -
SP7: - - - - - - - - - -
SP8: - -
SP9:
SP10:

Relevant External Links for DEF6 Gene

GeneLoc Exon Structure for
DEF6
ECgene alternative splicing isoforms for
DEF6

Expression for DEF6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DEF6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DEF6 Gene

This gene is overexpressed in Whole Blood (x16.6) and Spleen (x4.4).

Protein differential expression in normal tissues from HIPED for DEF6 Gene

This gene is overexpressed in Lymph node (36.8) and Peripheral blood mononuclear cells (13.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DEF6 Gene



Protein tissue co-expression partners for DEF6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DEF6 Gene:

DEF6

SOURCE GeneReport for Unigene cluster for DEF6 Gene:

Hs.15476

mRNA Expression by UniProt/SwissProt for DEF6 Gene:

Q9H4E7-DEFI6_HUMAN
Tissue specificity: Broadly expressed in the immune system and can be detected in T and B-cells.
genes like me logo Genes that share expression patterns with DEF6: view

Primer Products

Orthologs for DEF6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DEF6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEF6 34 35
  • 99.63 (n)
cow
(Bos Taurus)
Mammalia DEF6 34 35
  • 91.13 (n)
dog
(Canis familiaris)
Mammalia DEF6 34 35
  • 90.91 (n)
rat
(Rattus norvegicus)
Mammalia Def6 34
  • 89.21 (n)
mouse
(Mus musculus)
Mammalia Def6 34 16 35
  • 88.62 (n)
oppossum
(Monodelphis domestica)
Mammalia DEF6 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DEF6 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves DEF6 34 35
  • 75.38 (n)
lizard
(Anolis carolinensis)
Reptilia DEF6 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia def6 34
  • 61.72 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68775 34
zebrafish
(Danio rerio)
Actinopterygii def6a 34 35
  • 68.87 (n)
def6b 35
  • 56 (a)
OneToMany
DEF6 (2 of 3) 35
  • 44 (a)
OneToMany
zgc63721 34
Species where no ortholog for DEF6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DEF6 Gene

ENSEMBL:
Gene Tree for DEF6 (if available)
TreeFam:
Gene Tree for DEF6 (if available)

Paralogs for DEF6 Gene

Paralogs for DEF6 Gene

(2) SIMAP similar genes for DEF6 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with DEF6: view

Variants for DEF6 Gene

Sequence variations from dbSNP and Humsavar for DEF6 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1045035 -- 35,321,639(+) CTTGG(C/T)CCTGT utr-variant-3-prime
rs1045066 -- 35,321,745(+) CATTT(C/T)TAAAT utr-variant-3-prime
rs10659957 -- 35,317,121(+) CAACA(-/GTT)GTTGT intron-variant
rs10755687 -- 35,311,019(+) CAGGA(A/C)GGATG intron-variant
rs10807150 -- 35,304,497(+) TATGC(C/T)TGACC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DEF6 Gene

Variant ID Type Subtype PubMed ID
esv2759419 CNV loss 17122850
nsv830641 CNV loss 17160897
nsv602907 CNV loss 21841781
nsv528424 CNV loss 19592680

Variation tolerance for DEF6 Gene

Residual Variation Intolerance Score: 69.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.59; 65.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DEF6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEF6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEF6 Gene

Disorders for DEF6 Gene

Relevant External Links for DEF6

Genetic Association Database (GAD)
DEF6
Human Genome Epidemiology (HuGE) Navigator
DEF6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEF6

No disorders were found for DEF6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEF6 Gene

Publications for DEF6 Gene

  1. Molecular cloning of IBP, a SWAP-70 homologous GEF, which is highly expressed in the immune system. (PMID: 12651066) Gupta S. … Pernis A.B. (Hum. Immunol. 2003) 3 4 22 64
  2. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P. … Inskip P.D. (Cancer Epidemiol. Biomarkers Prev. 2010) 3 46 64
  3. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S. … Kang D. (Hum. Immunol. 2010) 3 46 64
  4. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J. … Grant S.F. (BMC Med. Genet. 2010) 3 46 64
  5. Adaptor protein SLAT modulates Fcgamma receptor-mediated phagocytosis in murine macrophages. (PMID: 19251698) Mehta H. … Coggeshall K.M. (J. Biol. Chem. 2009) 2 3 64

Products for DEF6 Gene

Sources for DEF6 Gene

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