DEF6 - DEF6 guanine nucleotide exchange factor Gene

Homo sapiens

Also known as IBP; SLAT; IMD87; SWAP70L

Gene ID: 50619 | Gene type: protein coding

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03671	DEF6 Human Pre-designed siRNA Set A		/	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