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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	50619
Gene name	DEF6 guanine nucleotide exchange factor
Gene symbol	DEF6
Synonyms (NCBI Gene)	IBPIMD87SLATSWAP70L
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]

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

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Immunodeficiency 87 and autoimmunity	Pathogenic	rs2150387447, rs2150388801	RCV001731258 RCV001731259	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEF6-related disorder	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (19)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28811467, 31308374, 31578334		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23975422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22888789	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26501144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27488395	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33000227	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24602018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Enthesitis	Enthesitis	BEFREE	27782870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	31308374, 31578334		★★★★★ ★☆☆☆☆ Found in Text Mining only
Libman-Sacks Disease	Nonbacterial verrucal endocardiosis	CTD_human_DG	26808113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	26808113	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	CTD_human_DG	26808113		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	28811467, 29483597		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	23975422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26501144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26501144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	27488395	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24602018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28314855		★★★★★ ★☆☆☆☆ Found in Text Mining only

DEF6 (DEF6 guanine nucleotide exchange factor)