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DEF6 - DEF6 guanine nucleotide exchange factor Gene

Also Known as IBP; SLAT; IMD87; SWAP70L

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 50619

About DEF6

Cytogenetic location: 6p21.31 Genomic coordinates (GRCh38): 6:35,297,818-35,321,771 (from NCBI)

This gene has 6 transcripts (splice variants), 229 orthologues, 2 paralogues and is associated with 1 phenotype. Broad expression in lymph node (RPKM 23.3), bone marrow (RPKM 22.5) and 21 other tissues.

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]

DEF6 Products (1)

mRNA	Protein	Name
NM_022047.4	NP_071330.3	differentially expressed in FDCP 6 homolog

DEF6 Protein Structure

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631 a.a.

Protein Preferred Names	Protein Names
differentially expressed in FDCP 6 homolog	DEF-6

DEF6 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	DEF6	Q9H4E7	HOMEZ	Homo sapiens	Q8IX15-3	Validated Y2H	25416956
Intra	DEF6	Q9H4E7	PTK2	Homo sapiens	I6L996	Validated Y2H	25416956
Intra	DEF6	Q9H4E7	PTK2	Homo sapiens	I6L996	Y2H Array	25416956
Intra	DEF6	Q9H4E7	PTK2	Homo sapiens	I6L996	Y2H Array	32296183
Intra	DEF6	Q9H4E7	PTK2	Homo sapiens	I6L996	Y2H Prey Pooling	25416956
Intra	DEF6	Q9H4E7	PTK2	Homo sapiens	I6L996	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	SAP18	Homo sapiens	O00422	Y2H Array	32296183
Intra	DEF6	Q9H4E7	SAP18	Homo sapiens	O00422	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	REL	Homo sapiens	Q04864-2	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	REL	Homo sapiens	Q04864-2	Y2H Array	32296183
Intra	DEF6	Q9H4E7	TEPSIN	Homo sapiens	Q96N21	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	TEPSIN	Homo sapiens	Q96N21	Y2H Array	32296183
Intra	DEF6	Q9H4E7	GOLGA6A	Homo sapiens	Q9NYA3	Validated Y2H	32296183
Intra	DEF6	Q9H4E7	GOLGA6A	Homo sapiens	Q9NYA3	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	GOLGA6A	Homo sapiens	Q9NYA3	Y2H Array	32296183
Intra	DEF6	Q9H4E7	L3MBTL3	Homo sapiens	Q96JM7-2	Y2H Array	32296183
Intra	DEF6	Q9H4E7	L3MBTL3	Homo sapiens	Q96JM7-2	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	ARHGAP22	Homo sapiens	Q7Z5H3-2	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	ARHGAP22	Homo sapiens	Q7Z5H3-2	Y2H Array	32296183
Intra	DEF6	Q9H4E7	EIF4ENIF1	Homo sapiens	Q9NRA8	Y2H Array	25416956
Intra	DEF6	Q9H4E7	EIF4ENIF1	Homo sapiens	Q9NRA8	Y2H Prey Pooling	25416956
Intra	DEF6	Q9H4E7	EIF4ENIF1	Homo sapiens	Q9NRA8	Validated Y2H	25416956
Intra	DEF6	Q9H4E7	KIAA1328	Homo sapiens	Q86T90	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	KIAA1328	Homo sapiens	Q86T90	Y2H Array	32296183
Intra	DEF6	Q9H4E7	RASAL3	Homo sapiens	Q86YV0	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	RASAL3	Homo sapiens	Q86YV0	Y2H Array	32296183
Intra	DEF6	Q9H4E7	CCDC88B	Homo sapiens	A6NC98	Y2H Array	32296183
Intra	DEF6	Q9H4E7	CCDC88B	Homo sapiens	A6NC98	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	PSMA1	Homo sapiens	P25786	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	PSMA1	Homo sapiens	P25786	Y2H Array	32296183
Intra	DEF6	Q9H4E7	ZNF688	Homo sapiens	P0C7X2	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	ZNF688	Homo sapiens	P0C7X2	Y2H Array	32296183
Intra	DEF6	Q9H4E7	TCF4	Homo sapiens	P15884	Y2H Array	31515488
Intra	DEF6	Q9H4E7	TCF4	Homo sapiens	P15884	Validated Y2H	25416956
Intra	DEF6	Q9H4E7	GOLGA6L9	Homo sapiens	A6NEM1	Y2H Array	32296183
Intra	DEF6	Q9H4E7	GOLGA6L9	Homo sapiens	A6NEM1	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	INCA1	Homo sapiens	Q0VD86	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	INCA1	Homo sapiens	Q0VD86	Y2H Array	32296183
Intra	DEF6	Q9H4E7	PBXIP1	Homo sapiens	Q96AQ6	Y2H Prey Pooling	25416956
Intra	DEF6	Q9H4E7	CDC42EP1	Homo sapiens	Q00587	Y2H Array	25416956
Intra	DEF6	Q9H4E7	CDC42EP1	Homo sapiens	Q00587	Y2H Prey Pooling	25416956
Intra	DEF6	Q9H4E7	SLU7	Homo sapiens	O95391	Y2H Array	32296183
Intra	DEF6	Q9H4E7	SLU7	Homo sapiens	O95391	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	INTS2	Homo sapiens	Q9H0H0	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	INTS2	Homo sapiens	Q9H0H0	Y2H Array	32296183
Intra	DEF6	Q9H4E7	KRT31	Homo sapiens	Q15323	Y2H Array	32296183
Intra	DEF6	Q9H4E7	KRT31	Homo sapiens	Q15323	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Immunodeficiency 87 And Autoimmunity	IMD87
Immunodeficiency 60	Bach2-Related Immunodeficiency And Autoimmunity Brida Imd60
Hemolytic Anemia	Anemia, Hemolytic Anemia Hemolytic Anaemia Due To Other Disorders Of Glutathione Metabolism Chronic Non Spherocytic Anaemia G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia Favism Anaemia Haemolytic Anaemia Due Tog6pd Deficiency Favism Pentose Phosphate Pathway Disorder Anaemia Anaemia Due To Pentose Phosphate Pathway Defect

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (9)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-23970	4,4'-(5,6,12,13-Tetrachloro-1,3,8,10-tetraoxo-1,3,8,10-tetrahydroanthra[2,1,9-def:6,5,10-d'e'f']diisoquinoline-2,9-diyl)dibenzoic acid		95.0%	Unkown
HY-RS21321	Def6 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS03671	DEF6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS03677	DEFA6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W075595	(2S,2'S)-2,2'-(1,3,8,10-Tetraoxo-1,3,8,10-tetrahydroanthra[2,1,9-def:6,5,10-d'e'f']diisoquinoline-2,9-diyl)dipropionic acid		/	Unkown
HY-W1049785	5,6,12,13-Tetrakis(4-(tert-butyl)phenoxy)-2,9-di(pyridin-4-yl)anthra[2,1,9-def:6,5,10-d'e'f']diisoquinoline-1,3,8,10(2H,9H)-tetraone		/	Unkown
HY-W112588	2,9-Di(pyridin-4-yl)anthra[2,1,9-def:6,5,10-d'e'f']diisoquinoline-1,3,8,10(2H,9H)-tetraone		/	Unkown
HY-W856222	5,5'-(1,3,8,10-Tetraoxo-1,3,8,10-tetrahydroanthra[2,1,9-def:6,5,10-d'e'f']diisoquinoline-2,9-diyl)diisophthalic acid		/	Unkown
HY-RS27840	Def6 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	DEF6	VGNC	VGNC:27986
Macaca mulatta	DEF6	VGNC	VGNC:71769
Felis catus	DEF6	VGNC	VGNC:61425
Canis familiaris	DEF6	VGNC	VGNC:39874
Rattus norvegicus	DEF6	RGD	RGD:1307945
Mus musculus	DEF6	MGD	MGI:1346328
Others	DEF6	NCBI