DEF6 (DEF6 guanine nucleotide exchange factor)

Gene

• Entrez ID: 50619
• Gene name: DEF6 guanine nucleotide exchange factor
• Gene symbol: DEF6
• Synonyms (NCBI Gene): IBP, IMD87, SLAT, SWAP70L
• Disease Acronyms (UniProt): IMD87
• Chromosome: 6
• Chromosome location: 6p21.31
• Summary: 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]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT442132	hsa-miR-3662	PAR-CLIP	22100165
MIRT442132	hsa-miR-3662	PAR-CLIP	22100165
MIRT442132	hsa-miR-3662	PAR-CLIP	22100165
MIRT442132	hsa-miR-3662	PAR-CLIP	22100165
MIRT1975843	hsa-miR-3165	CLIP-seq
MIRT1975844	hsa-miR-3201	CLIP-seq
MIRT1975845	hsa-miR-4435	CLIP-seq
MIRT1975846	hsa-miR-4456	CLIP-seq
MIRT1975847	hsa-miR-4791	CLIP-seq
MIRT1975848	hsa-miR-663b	CLIP-seq
MIRT2211284	hsa-miR-4283	CLIP-seq
MIRT2211285	hsa-miR-432	CLIP-seq
MIRT2211286	hsa-miR-4487	CLIP-seq
MIRT2211287	hsa-miR-4489	CLIP-seq
MIRT2211288	hsa-miR-4633-3p	CLIP-seq
MIRT2211289	hsa-miR-4667-5p	CLIP-seq
MIRT2211290	hsa-miR-4700-5p	CLIP-seq
MIRT2211291	hsa-miR-4774-5p	CLIP-seq
MIRT2211292	hsa-miR-637	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0030175	Component	Filopodium	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA

Other IDs

• MIM: 610094
• HGNC: 2760
• e!Ensembl: ENSG00000023892

Protein

• UniProt ID: Q9H4E7
• Protein name: Differentially expressed in FDCP 6 homolog (DEF-6) (IRF4-binding protein)
• Protein 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 (PubMed:12651066, PubMed:15023524). Can regulate cell morphology in cooperation
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00169	PH	217 → 312	PH domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Broadly expressed in the immune system. Highly expressed in T cells (PubMed:31308374). {ECO:0000269|PubMed:12651066, ECO:0000269|PubMed:31308374}.
• Sequence:

  MALRKELLKSIWYAFTALDVEKSGKVSKSQLKVLSHNLYTVLHIPHDPVALEEHFRDDDD
  GPVSSQGYMPYLNKYILDKVEEGAFVKEHFDELCWTLTAKKNYRADSNGNSMLSNQDAFR
  LWCLFNFLSEDKYPLIMVPDEVEYLLKKVLSSMSLEVSLGELEELLAQEAQVAQTTGGLS
  VWQFLELFNSGRCLRGVGRDTLSMAIHEVYQELIQDVLKQGYLWKRGHLRRNWAERWFQL
  QPSCLCYFGSEECKEKRGIIPLDAHCCVEVLPDRDGKRCMFCVKTANRTYEMSASDTRQR
  QEWTAAIQMAIRLQAEGKTSLHKDLKQKRREQREQRERRRAAKEEELLRLQQLQEEKERK
  LQELELLQEAQRQAERLLQEEEERRRSQHRELQQALEGQLREAEQARASMQAEMELKEEE
  AARQRQRIKELEEMQQRLQEALQLEVKARRDEESVRIAQTRLLEEEEEKLKQLMQLKEEQ
  ERYIERAQQEKEELQQEMAQQSRSLQQAQQQLEEVRQNRQRADEDVEAAQRKLRQASTNV
  KHWNVQMNRLMHPIEPGDKRPVTSSSFSGFQPPLLAHRDSSLKRLTRWGSQGNRTPSPNS
  NEQQKSLNGGDEAPAPASTPQEDKLDPAPEN

• Sequence length: 631

Associated diseases

Unknown
Disease term	Disease name	Evidence	References	Source
Immunodeficiency	immunodeficiency 87 and autoimmunity			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Breast Neoplasms	Associate	22888789
Carcinoma Renal Cell	Associate	27488395
Carcinoma Renal Cell	Stimulate	33000227
Lupus Erythematosus Systemic	Associate	26808113
Neoplasms	Associate	27488395, 33000227
Ovarian Neoplasms	Associate	27488395
Primary Immunodeficiency Diseases	Associate	38644452