Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	50619
Gene name Gene Name - the full gene name approved by the HGNC.	DEF6 guanine nucleotide exchange factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DEF6
Synonyms (NCBI Gene) Gene synonyms aliases	IBP, IMD87, SLAT, SWAP70L
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p21.31
Summary Summary of gene provided in NCBI Entrez 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]

Show/Hide all(19)

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

Show/Hide all(18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005515	Function	Protein binding	IPI	25416956, 31308374, 31515488, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0030175	Component	Filopodium	IEA
GO:0042995	Component	Cell projection	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0098876	Process	Vesicle-mediated transport to the plasma membrane	IMP	31308374

MIM	HGNC	e!Ensembl
610094	2760	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

Interactions

View interactions

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Immunodeficiency	immunodeficiency 87 and autoimmunity	N/A	N/A	GenCC

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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

DEF6 (DEF6 guanine nucleotide exchange factor)