• Gene id: 50619

Gene Summary

• Gene Symbol: DEF6   Gene   UCSC   Ensembl
• Aliases: IBP, SLAT, SWAP70L
• Gene name: DEF6 guanine nucleotide exchange factor
• Alternate names: differentially expressed in FDCP 6 homolog, DEF-6, IRF4-binding protein, SWAP-70-like adaptor protein of T cells,
• Gene location: 6p21.31 (35297817: 35321770)     Exons: 11     NC_000006.12
• Gene summary(Entrez): 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]
• OMIM: 610094

Protein Summary

• Protein general information: Q9H4E7  
  • Name: Differentially expressed in FDCP 6 homolog (DEF 6) (IRF4 binding protein)
  • Length: 631  
  • Mass: 73910
  • Tissue specificity: Broadly expressed in the immune system and can be detected in T and B-cells. {ECO
• Sequence:

  MALRKELLKSIWYAFTALDVEKSGKVSKSQLKVLSHNLYTVLHIPHDPVALEEHFRDDDDGPVSSQGYMPYLNKY
  ILDKVEEGAFVKEHFDELCWTLTAKKNYRADSNGNSMLSNQDAFRLWCLFNFLSEDKYPLIMVPDEVEYLLKKVL
  SSMSLEVSLGELEELLAQEAQVAQTTGGLSVWQFLELFNSGRCLRGVGRDTLSMAIHEVYQELIQDVLKQGYLWK
  RGHLRRNWAERWFQLQPSCLCYFGSEECKEKRGIIPLDAHCCVEVLPDRDGKRCMFCVKTANRTYEMSASDTRQR
  QEWTAAIQMAIRLQAEGKTSLHKDLKQKRREQREQRERRRAAKEEELLRLQQLQEEKERKLQELELLQEAQRQAE
  RLLQEEEERRRSQHRELQQALEGQLREAEQARASMQAEMELKEEEAARQRQRIKELEEMQQRLQEALQLEVKARR
  DEESVRIAQTRLLEEEEEKLKQLMQLKEEQERYIERAQQEKEELQQEMAQQSRSLQQAQQQLEEVRQNRQRADED
  VEAAQRKLRQASTNVKHWNVQMNRLMHPIEPGDKRPVTSSSFSGFQPPLLAHRDSSLKRLTRWGSQGNRTPSPNS
  NEQQKSLNGGDEAPAPASTPQEDKLDPAPEN

• Structural information:
  • Protein Domains: (216..31-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR011992  IPR011993  IPR001849  
  • Prosite: PS50003
  • STRING: ENSP00000319831
• Other Databases: GeneCards:  DEF6  Malacards:  DEF6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0030175	filopodium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R