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

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Immunodeficiency 87 and autoimmunity	Pathogenic	rs2150387447, rs2150388801	RCV001731258 RCV001731259

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs114708018	RCV005914058
Cervical cancer	Benign	rs115047813, rs114708018	RCV005912945 RCV005914060
DEF6-related disorder	Conflicting classifications of pathogenicity; Likely benign	rs377311393, rs767159026, rs746197755	RCV003395405 RCV003981151 RCV003976884
Lung cancer	Benign	rs115047813	RCV005912946
Malignant tumor of esophagus	Benign; Likely benign	rs114708018, rs192314624, rs375239867	RCV005914059 RCV005926069 RCV005927821
Ovarian serous cystadenocarcinoma	Likely benign	rs371744858	RCV005925847
Sarcoma	Benign	rs114708018	RCV005914061
Thymoma	Benign	rs114708018	RCV005914062
Uterine corpus endometrial carcinoma	Benign	rs114708018	RCV005914063

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)